Science.gov

Sample records for congenital pouch colon

  1. Congenital pouch colon: is it really a rare pathology?

    PubMed

    Atabek, Cüneyt; Demirbağ, Suzi; Sürer, Ilhami; Kocaoğlu, Murat; Ongürü, Onder; Calişkan, Bahadir; Oztürk, Haluk

    2007-12-01

    Congenital pouch colon is a condition of a shortened and pouch-like dilated colon and it is usually associated with an anorectal malformation. The pathogenesis and embryology of congenital pouch colon are not well understood, but dietary, environmental factors and familial inheritance may be contributing factors in this pathology. Most of the cases in the literature have been reported from India. This increased regional incidence may be attributed to the lack of awareness of this pathology or its mislabeling rather than regional distribution. Congenital pouch colon is classified into four types based on the length of the abnormal colon. A variable dilatation of the rectum and sigmoid is always present in anorectal malformation. However, there is no clear definition of a limit for the dilatation of the rectum and sigmoid observed in anorectal malformation. Furthermore, many surgeons do not routinely take a biopsy from a dilated rectum or sigmoid during a colostomy procedure in anorectal malformation cases. For these reasons, type IV congenital pouch colon can be easily underdiagnosed. Surgical treatment options in type IV congenital pouch colon include resection of the affected sites of the colon or excisional tapering coloplasty. In the undiagnosed cases, congenital pouch colon results in severe constipation and overflow incontinence. We herein report two additional new cases of type IV congenital pouch colon.

  2. Assessment of Nutritional Status of Patients of Congenital Pouch Colon Following Definitive Surgery

    PubMed Central

    Shinde, Nand Kishor; Kumar, Praveen; Dabla, Pradeep Kumar; Jhanwar, Praveen; Chadha, Rajiv; Choudhury, Subhasis Roy

    2017-01-01

    Purpose: To assess the nutritional status in 31 patients of congenital pouch colon (CPC) who had undergone definitive surgery and closure of a protective stoma, if any, at least 1 year earlier and were below 14 years age. Materials and Methods: The clinical history, demographic details, anthropometric measurements, and results of hematological and biochemical tests were recorded. In addition to collective data, analysis was also performed after grouping by age, subtype of CPC (Types I/II and Types III/IV CPC), and in Types I/II CPC patients, by whether the colonic pouch had been completely excised or else a segment preserved by tubular colorraphy (TC). Results: Severe fecal incontinence (FI) was common (64.52%). Anthropometry showed a significant malnutrition in 53.85–95.45% patients, especially stunting which was most prevalent in the 0–5 years age-group. Serum Vitamin B12, folate, and Vitamin D were lower than normal in 38.71%, 22.58%, and 74.19% patients, respectively, without statistically significant difference among the various groups studied. Patients with Types I/II CPC had a statistically significant higher incidence of anemia, low serum ferritin, and severe FI than patients with Types III/IV CPC. Patients with Types I/II CPC, managed by excision of the colonic pouch, had a higher incidence of severe FI, wasting, and thinness than those undergoing TC. Conclusions: On follow-up of the patients of CPC, anthropometry shows a high incidence of malnutrition, especially stunting in the 0–5 years age-group. There is an adequate adaptation of fluid-electrolyte homeostasis. Although Types I/II CPC patients have a significantly higher incidence of anemia and severe FI than Types III/IV CPC patients, long-term anthropometric parameters are similar. In Types I/II CPC, preservation of the colonic pouch by TC offers long-term benefit. PMID:28082770

  3. Congenital pouch colon in a girl associated with bilateral atresia of cervix uteri and uterus didelphys.

    PubMed

    Chadha, Rajiv; Puri, Manju; Saxena, Rahul; Agarwala, Surendrakumar; Puri, Archana; Choudhury, Subhasis Roy

    2013-04-01

    This report describes a girl with congenital pouch colon (CPC), uterus didelphys with septate vagina, and a cloacal anomaly. The girl underwent cloacal reconstruction at the age of 15 months. Subsequently, at puberty, the child had primary amenorrhea with severe cyclic abdominal pain due to endometriosis of both the uteruses and adnexal cysts with hematometra and hematosalpinx. Laparotomy with removal of both uteri and the left fallopian tube was performed. Both uteri had atresia of the cervix uteri. This report emphasizes the need for comprehensive evaluation and a long-term management strategy for associated gynecologic anomalies in girls with CPC, especially with regard to patency of the outflow tract.

  4. Total proctocolectomy and ileal - anal pouch

    MedlinePlus

    Restorative proctocolectomy; Ileal-anal resection; Ileal-anal pouch; J-pouch; S-pouch; Pelvic pouch; Ileal-anal pouch; Ileal ... RD, Mahmoud N, Maron DJ, Ross HM, Rombeau J. Colon and rectum. In: Townsend CM, Beauchamp RD, ...

  5. Severe Dumping Syndrome in a 6-year-old Girl with Congenital Microgastria Treated by Hunt-Lawrence Pouch

    PubMed Central

    Filisetti, Claudia; Maestri, Luciano; Meroni, Milena; Marinoni, Federica; Riccipetitoni, Giovanna

    2017-01-01

    Microgastria is a rare congenital condition often associated with other anomalies. In the present report we describe the case of a 6-year-old girl with isolated CM who presented with dumping syndrome successfully treated by a Hunt-Lawrence pouch. PMID:28361011

  6. Puborectal sling interposition combined with seton drainage for pouch-vaginal fistula after rectal cancer surgery with colonic J pouch-anal reconstruction: report of a case.

    PubMed

    Kawamoto, Aya; Inoue, Yasuhiro; Okigami, Masato; Okugawa, Yoshinaga; Hiro, Junichiro; Toiyama, Yuji; Tanaka, Koji; Uchida, Keiichi; Mohri, Yasuhiko; Kusunoki, Masato

    2014-01-01

    The management of postoperative rectovaginal fistula (RVF) after rectal cancer surgery is difficult and requires reconstruction of the anastomotic site and fistula. Though various surgical procedures have been reported for the repair of RVFs, the results of surgical repair are often unsatisfactory, and failure of the initial repair leads to difficulty in the later operations. Furthermore, it has been reported that cases associated with local infection result in low success rates. We report a case of an 80-year-old woman with a recurrent colonic J pouch-vaginal fistula after anoabdominal rectal resection with partial internal sphincteric resection, who achieved a good outcome following a repair using a puborectal sling interposition combined with seton drainage. It may be a useful option for RVF management in repair of such pouch-vaginal fistula after coloanal anastomosis with intersphincteric resection.

  7. Huge Congenital Segmental Dilatation of the Sigmoid Colon in a Neonate: A "Rarity to Meet" and a "Challenge to Treat".

    PubMed

    Kaiser, Margarita; Castellani, Christoph; Singer, Georg; Marterer, Robert; Ratschek, Manfred; Till, Holger

    2016-01-01

    Only ten cases of neonatal congenital segmental dilatation (CSD) of the colon have been described so far. We present a full-term female newborn with trisomy 21, ventricular septal defect, and gross abdominal distension. Plain abdominal radiographs revealed a huge cystic lesion occupying the left hemiabdomen. Upon laparotomy on day 4 a CSD of the distal sigmoid and proximal rectum was confirmed and resected. The proximal colon was exteriorized and the distal part closed as a Hartmann pouch. Histology confirmed a huge segmental dilatation of the sigmoid without dysganglionosis or pseudodiverticula, but normal intestinal architecture. After correction of the ventricular septal defect a low rectal end-to-end anastomosis could be performed at an age of 5 months. The postoperative course was uneventful. CSD of the sigmoid colon is extremely "rare to meet" and a "challenge to treat" in the newborn period, but clinical awareness of this entity prompts pediatric surgical success.

  8. Gastric-type extremely well-differentiated adenocarcinoma arising in the blind pouch of a bypassed stomach, presenting as colonic pseudo-obstruction.

    PubMed

    McFarland, Sarah; Manivel, Carlos J; Ramaswamy, Archana; Mesa, Hector

    2015-01-01

    Gastric carcinoma after gastric bypass is rare. Extremely well-differentiated adenocarcinoma (EWDA) of the stomach is a rare variant that has been mostly reported in Japan. We present a case of a 68-year-old man with EWDA arising in the bypassed stomach that presented as a colonic pseudo-obstruction (CPO). Several imaging, endoscopic and pathologic studies performed in the course of 2 months were non-diagnostic. An iatrogenic duodenal perforation during a diagnostic procedure led to an emergent exploratory laparotomy in which the dilated colonic segment was resected. Pathologic examination showed metastatic EWDA in the colonic wall. Post-operative complications led to the patient's demise. At autopsy the primary tumor was identified in the blind pouch of the bypassed stomach. A literature review on gastric EWDA and carcinomas arising in bypassed stomachs is discussed. EWDA of the stomach is rare, difficult to diagnose, and shows an aggressive clinical course discordant with its near-benign histology. Gastric cancer arising in a bypassed stomach is uncommon; when it occurs it is usually diagnosed at advanced stage. Surveillance of the blind pouch is not currently recommended. Malignant infiltration of the colonic wall should be included in the differential diagnosis of CPO of unclear etiology.

  9. [A case of low anterior resection combined with resection of the prostate seminal vesicle urethra for douglas' pouch metastasis of the colon cancer].

    PubMed

    Kato, Ryo; Yokouchi, Hideoki; Murata, Kohei

    2011-11-01

    A-71-year-old man with sigmoid colon cancer underwent sigmoidectomy in 2004. Ascites cytology was positive. He had a postoperative chemotherapy, but cancer recurred on the Douglas' pouch in the first year after the surgery. After chemoradiation, he underwent a low anterior resection with combined resection of the prostate seminal vesicle urethra in 2005. Four years after the recurrence, metastasis of the right lung S9 occurred, and he underwent right lower lobectomy. One year later, metastasis of the left lung S6 occurred, he underwent a partial resection of S6. Later a local recurrence has not been observed. Among the colon cancer recurrence, we think the surgery was effective for local recurrence disease with adequate observation.

  10. Reconstruction for chronic dysfunction of ileoanal pouches.

    PubMed Central

    Fonkalsrud, E W; Bustorff-Silva, J

    1999-01-01

    OBJECTIVE: A retrospective review was performed to determine the results after surgical reconstruction for chronic dysfunction of ileal pouch-anal procedures for ulcerative colitis and familial colonic polyposis at a university medical center. METHODS: During the 20-year period from 1978 to 1998, 601 patients underwent colectomy and ileal pouch-anal anastomosis (IPAA) for ulcerative colitis, familial colonic polyposis, or Hirschsprung's disease. A J pouch was used for 351 patients, a lateral pouch for 221, an S pouch for 6, and a straight pull-through for 23. Acute complications after pouch construction have been detailed in previous publications and are not included in this study. Chronic pouch stasis with diarrhea, frequency, urgency, and soiling gradually became more severe in 164 patients (27.3%), associated with pouch enlargement, an elongated efferent limb, and obstruction to pouch outflow, largely related to the pouch configuration used during the authors' early clinical experience. These patients were sufficiently symptomatic to be considered for reconstruction (mean 68 months after IPAA). Transanal resection of an elongated IPAA spout was performed on 58 patients; abdominoperineal mobilization of the pouch with resection and tapering of the lower end (AP reconstruction) and ileoanal anastomosis on 83; pouch removal and new pouch construction on 7; and conversion of a straight pull-through to a pouch on 16. RESULTS: Good long-term results (mean 7.7 years) with improvement in symptoms occurred in 98% of transanal resections, 91.5% of AP reconstructions, 86% of new pouch constructions, and 100% of conversions of a straight pull-through to a pouch. The average number of bowel movements per 24 hours at 6 months was 4.8. Complications occurred in 11.6% of reconstructed patients. Five of the 164 patients (3.1%) required eventual pouch removal and permanent ileostomy. The high rate of pouch revision in this series of patients undergoing IPAA is due to a policy of

  11. Changing your urostomy pouch

    MedlinePlus

    ... can stand over a toilet or use rolled up gauze or paper towels below your stoma to absorb the urine. When you remove the old pouch, push down on your skin to loosen it. DO NOT pull the pouch off your skin. Before you put ...

  12. Ileostomy - changing your pouch

    MedlinePlus

    ... the pouch. Push the skin away from the seal. DO NOT pull the ostomy away from your skin. Wash your stoma and the skin around it carefully with soapy water. Use mild soap, such as Ivory, Safeguard, or ...

  13. Presence of accessory penis, colonic duplication and several other congenital anomalies in a child: a very rare association.

    PubMed

    Chatterjee, Sayan; Mondal, Prabodh Chandra; Pandey, Shashi Bhushan; Achar, Arun

    2014-10-01

    An accessory penis is a very rare anomaly. Only five cases have been reported thus far to our knowledge. We present the case of a child aged 2 years and 10 months who had a penis-like structure (containing phallus and glans) attached to the right buttock. Associated anomalies were a non-communicating type of colonic duplication, a paramedian stenosed anal opening, a horse-shoe kidney, posterior urethral valves, scoliosis of the lumbo-sacral spine, polydactyly and equino-varus deformity of the right foot. As far as we can tell, this is the first report of an accessory penis associated with colonic duplication and other congenital anomalies.

  14. [A case of strangulated congenital diaphragmatic hernia with necrosis and rupture of the colon and herniation into a left hemithorax in an adult (author's transl)].

    PubMed

    Sarris, M; Georgoulis, J; Gatos, M; Dariotis, A

    This is a case report of a successful repair of congenital diaphragmatic hernia in a 48 years old male that contained the transverse colon which was strangulated and ruptured in the left thoracic cavity. It was approached in two stages. First through a laparotomy the proximal part of the transverse colon was divided. The side going to the hernial sac was sutured and the proximal stump was anastomosed to the descending colon. In a second stage, two days later, through a felt thoracotomy the strangulated and ruptured colon was resected and the distal stump of the transverse colon was sutured and the hernia repaired.

  15. Varied Presentation of Congenital Segmental Dilatation of the Intestine in Neonates: Report of Three Cases

    PubMed Central

    Rai, Binod Kumar; Mirza, Bilal; Hashim, Imran; Saleem, Muhammad

    2016-01-01

    Congenital segmental dilatation (CSD) of the intestine is a rare developmental anomaly characterized by sharply demarcated dilatation of a gastrointestinal segment and may present with intestinal obstruction. We report three cases of CSD of the intestine in neonates with varied presentation. First patient was mistaken as pneumoperitoneum on abdominal radiograph, which led to initial abdominal drain placement. The 2nd patient was a case of anorectal malformation associated with congenital pouch colon (CPC) and CSD of ileum; and the third case presented as neonatal intestinal obstruction and found to have CSD of ileum. All the patients were successfully managed in our department. PMID:27896163

  16. Crohn's Disease of the Ileoanal Pouch.

    PubMed

    Lightner, Amy L; Pemberton, John H; Loftus, Edward J

    2016-06-01

    Crohn's disease (CD) of the pouch is an increasingly recognized diagnosis after ileal pouch-anal anastomosis. This post-ileal pouch-anal anastomosis diagnosis in conjunction with pouchitis remains the leading reason for pouch excision. Unfortunately, CD of the pouch remains a difficult diagnosis with lack of a uniform definition largely because of its similarity to common postoperative pouch complications, including pouchitis, abscess formation, or stricture at the anastomosis. Once diagnosed, treatment algorithms largely include multimodal therapy including biologics. This review focuses on the definition, etiology, diagnosis, and treatment for CD of the pouch, a postoperative de novo diagnosis of CD.

  17. Changing your ostomy pouch

    MedlinePlus

    ... Mosby; 2014:chap 35. Read More Colon cancer Intestinal obstruction repair Large bowel resection Ulcerative colitis Patient Instructions Diet - full liquid Intestinal or bowel obstruction - discharge Large bowel resection - discharge Review Date 12/ ...

  18. Ileal pouch surgery for ulcerative colitis

    PubMed Central

    Bach, Simon P; Mortensen, Neil J

    2007-01-01

    Ulcerative colitis (UC) is a relapsing and remitting disease characterised by chronic mucosal and submucosal inflammation of the colon and rectum. Treatment may vary depending upon the extent and severity of inflammation. Broadly speaking medical treatments aim to induce and then maintain remission. Surgery is indicated for inflammatory disease that is refractory to medical treatment or in cases of neoplastic transformation. Approximately 25% of patients with UC ultimately require colectomy. Ileal pouch-anal anastomosis (IPAA) has become the standard of care for patients with ulcerative colitis who ultimately require colectomy. This review will examine indications for IPAA, patient selection, technical aspects of surgery, management of complications and long term outcome following this procedure. PMID:17659667

  19. Laparoscopic restorative proctocolectomy ileal pouch anal anastomosis: How I do it?

    PubMed Central

    Madnani, Manish A; Mistry, Jitendra H; Soni, Harshad N; Shah, Atul J; Patel, Kantilal S; Haribhakti, Sanjiv P

    2015-01-01

    Surgery for ulcerative colitis is a major and complex colorectal surgery. Laparoscopy benefits these patients with better outcomes in context of cosmesis, pain and early recovery, especially in young patients. For surgeons, it is a better tool for improving vision and magnification in deep cavities. This is not the simple extension of the laparoscopy training. Starting from preoperative preparation to post operative care there are wide variations as compared to open surgery. There are also many variations in steps of laparoscopic surgery. It involves left colon, right colon and rectal mobilisation, low division of rectum, pouch creation and anastomosis of pouch to rectum. Over many years after standardisation of this technique, it takes same operative time as open surgery at our centre. So we present our standardized technique of laparoscopic assisted restorative proctocolectomy and ileal pouch anal anastomosis (IPAA). PMID:26195886

  20. Laparoscopic restorative proctocolectomy ileal pouch anal anastomosis: How I do it?

    PubMed

    Madnani, Manish A; Mistry, Jitendra H; Soni, Harshad N; Shah, Atul J; Patel, Kantilal S; Haribhakti, Sanjiv P

    2015-01-01

    Surgery for ulcerative colitis is a major and complex colorectal surgery. Laparoscopy benefits these patients with better outcomes in context of cosmesis, pain and early recovery, especially in young patients. For surgeons, it is a better tool for improving vision and magnification in deep cavities. This is not the simple extension of the laparoscopy training. Starting from preoperative preparation to post operative care there are wide variations as compared to open surgery. There are also many variations in steps of laparoscopic surgery. It involves left colon, right colon and rectal mobilisation, low division of rectum, pouch creation and anastomosis of pouch to rectum. Over many years after standardisation of this technique, it takes same operative time as open surgery at our centre. So we present our standardized technique of laparoscopic assisted restorative proctocolectomy and ileal pouch anal anastomosis (IPAA).

  1. Male issues of the ileal pouch.

    PubMed

    Kani, Haluk T; Shen, Bo

    2015-03-01

    : Restorative proctocolectomy with ileal pouch-anal anastomosis is the standard surgical treatment modality for patients with ulcerative colitis who require colectomy. There are special issues related to male gender. We performed systemic literature review on the topic, incorporating the experience in our specialized Center for Ileal Pouch Disorders, and provide recommendations for the identification and management for the gender-specific issues in male patients with ileal pouches. Chronic pouchitis, particularly ischemic pouchitis, anastomotic leak, and presacral sinus are more common in male patients than their female counterparts. Sexual dysfunction can occur after pouch surgery, particularly in those with pouch failure. Diagnosis and management of benign and malignant prostate diseases can be challenging due to the altered pelvic anatomy from the surgery. Digital rectal examination for prostate cancer screening is not reliable. Transpouch biopsy of prostate may lead to pouch fistula or abscess. Pelvic radiation therapy may have an adverse impact on the pouch function. In conclusion, sexual dysfunction and enlarged prostate can occur in patients with the ileal pouch. The measurement of serum prostate-specific antigen is a preferred method for the screening of prostate cancer. If biopsy of the prostate is needed, the perineal route is recommended. The risk for pouch dysfunction and the benefit for oncologic survival of pelvic radiation for prostate cancer should be carefully balanced.

  2. Tuberculosis Detection by Giant African Pouched Rats

    ERIC Educational Resources Information Center

    Poling, Alan; Weetjens, Bart; Cox, Christophe; Beyene, Negussie; Durgin, Amy; Mahoney, Amanda

    2011-01-01

    In recent years, operant discrimination training procedures have been used to teach giant African pouched rats to detect tuberculosis (TB) in human sputum samples. This article summarizes how the rats are trained and used operationally, as well as their performance in studies published to date. Available data suggest that pouched rats, which can…

  3. Ileal J-Pouch Perforation: Case Report.

    PubMed

    Dogan, U; Dogan, B; Habibi, M; Erol, M K; Mayir, B; Aslaner, A; Bulbuller, N

    2015-01-01

    A 34-year-old male patient who had undergone total colectomy and J-pouch ileanal anastomosis subsequent to diagnosis of familial adenomatous polyposis five years previously was admitted to the emergency room with complaints of severe abdominal pain of a four-day duration. Physical examination revealed widespread tenderness throughout the abdomen, especially in the lower quadrant. Abdominal ultrasonography revealed fluid between intestinal loops and computed tomography revealed free air and fluid in the abdomen. During laparotomy to expand the ileal J-pouch to approximately 12 cm in diameter, a 2-mm perforation was detected in the blind end of the ileal J-pouch. The perforation was repaired primarily and protective ileostomy was performed. During postoperative endoscopy, neither obstruction nor stasis was observed, but pouchitis was observed in the ileal J-pouch. The patient was postoperatively discharged on the 20th day and followed endoscopically. The endoscopic findings were normal in the sixth month postsurgery.

  4. Models of inflammation: carrageenan air pouch.

    PubMed

    Duarte, Djane B; Vasko, Michael R; Fehrenbacher, Jill C

    2012-03-01

    The subcutaneous air pouch is an in vivo model that can be used to study acute and chronic inflammation, the resolution of the inflammatory response, and the oxidative stress response. Injection of irritants into an air pouch in rats or mice induces an inflammatory response that can be quantified by the volume of exudate produced, the infiltration of cells, and the release of inflammatory mediators. The model presented in this unit has been extensively used to identify potential anti-inflammatory drugs.

  5. Technical aspects of ileoanal pouch surgery.

    PubMed

    Carne, Peter W G; Pemberton, John H

    2004-02-01

    Ileal pouch-anal anastomosis has become the surgical procedure of choice for chronic ulcerative colitis. Since the initial description of the technique, various modifications have facilitated its evolution into a safe operation with excellent long-term outcomes. However, some aspects of the operation remain contentious. Our aim is to describe the technical aspects of ileal pouch-anal anastomosis and review the current literature in the areas of controversy.

  6. Antimicrobial Protection of Marsupial Pouch Young

    PubMed Central

    Cheng, Yuanyuan; Belov, Katherine

    2017-01-01

    Marsupials diverged from eutherian mammals about 148 million years ago and represent a unique lineage of mammals with distinctive morphological and reproductive characteristics. Marsupials have significantly shorter gestation periods than eutherians. Pregnancy typically ranges from 15 to 35 days, with young being born at a very early developmental stage and lacking differentiated lymphoid tissues and mature effector cells. Recent microbiome studies of the marsupial pouch revealed that marsupial young can face intense microbial challenges after birth, as the pouch contains a broad range of Gram-positive and Gram-negative bacteria. Antimicrobials are believed to play a significant role in the immune protection of marsupial newborns during their pouch life. The skin of the post-reproductive pouch secretes antimicrobial lysozyme and dermcidin, which may contribute to the decreased density of certain bacteria in the pouch. A range of antimicrobial agents, such as immunoglobulins, lysozyme, transferrin, and cathelicidins, have been identified in marsupial milk. Antimicrobial assays have revealed that marsupial cathelicidins have broad-spectrum activity against a variety of bacteria and fungi, including several multi-drug resistant strains. In this article, we will review the action mechanisms of these antimicrobial compounds and discuss how they protect marsupial newborns from potentially pathogenic bacteria inside the pouch. We will also discuss the potential of marsupial antimicrobial compounds as a source of novel antibiotics. PMID:28326070

  7. Experimental Infection of Sheep at 45 and 60 Days of Gestation with Schmallenberg Virus Readily Led to Placental Colonization without Causing Congenital Malformations

    PubMed Central

    Dal Pozzo, Fabiana; De Regge, Nick; Cay, Brigitte; Saegerman, Claude

    2015-01-01

    Background Main impact of Schmallenberg virus (SBV) on livestock consists in reproductive disorders, with teratogenic effects, abortions and stillbirths. SBV pathogenesis and viral placental crossing remain currently poorly understood. Therefore, we implemented an experimental infection of ewes, inoculated with SBV at 45 or 60 days of gestation (dg). Methodology “Mourerous” breed ewes were randomly separated in three groups: eight and nine ewes were subcutaneously inoculated with 1 ml of SBV infectious serum at 45 and 60 dg, respectively (G45 and G60). Six other ewes were inoculated subcutaneously with sterile phosphate buffer saline as control group. All SBV inoculated ewes showed RNAemia consistent with previously published studies, they seroconverted and no clinical sign was reported. Lambs were born at term via caesarian-section, and right after birth they were blood sampled and clinically examined. Then both lambs and ewes were euthanatized and necropsied. Principal Findings/Significance No lambs showed any malformation suggestive of SBV infection and none of them had RNAemia or anti-SBV antibodies prior to colostrum uptake. Positive SBV RNA detection in organs was rare in both G45 and G60 lambs (2/11 and 1/10, respectively). Nevertheless most of the lambs in G45 (9/11) and G60 (9/10) had at least one extraembryonic structure SBV positive by RTqPCR. The number of positive extraembryonic structures was significantly higher in G60 lambs. Time of inoculation (45 or 60 dg) had no impact on the placental colonization success rate but affected the frequency of detecting the virus in the offspring extraembryonic structures by the time of lambing. SBV readily colonized the placenta when ewes were infected at 45 or 60 dg but infection of the fetuses was limited and did not lead to congenital malformations. PMID:26418420

  8. Disconnection, pouch revision and reconnection of the ileal pouch-anal anastomosis.

    PubMed

    Sagar, P M; Dozois, R R; Wolff, B G; Kelly, K A

    1996-10-01

    The aim of this retrospective study was to determine the outcome of patients with a dysfunctional pelvic ileal reservoir in whom disconnection of an ileal pouch-anal anastomosis (IPAA), pouch revision and reanastomosis had been carried out. There were 23 patients (15 women). At the revision operation functional problems were found to be due to a long efferent spout (nine patients), sepsis and/or fistula (four), a redundant blind limb (three), a twisted pouch (three), anastomotic problems (three) or no reservoir (one). The pouch was salvaged in 16 patients and a new pouch was constructed in seven. The pouch-anal anastomosis was resutured in 22 patients and stapled in one. Postoperative complications (all minor) occurred in six patients. Two patients underwent two revision of IPAA. At a median follow-up of 5 (range 1-10) years, 11 patients reported good to excellent function, five reported fair function and one reported recurrent pouchitis. Revision surgery was unsuccessful in six of 23 patients (three had gross incontinence, two excessive bowel movements and one Crohn's disease), and they subsequently underwent pouch excision. It is concluded that revision of an ileal reservoir and IPAA can be undertaken safely with good results in carefully selected patients.

  9. Fourth branchial pouch sinus: diagnosis and treatment.

    PubMed

    Rosenfeld, R M; Biller, H F

    1991-07-01

    The fourth branchial pouch sinus (FBPS) is a rare translaryngeal anomaly with diverse manifestations, including neonatal stridor and recurrent deep neck infection. Review of the world literature reveals 23 reports of sinuses consistent with fourth pouch origin. We present two additional cases, including the only example of a right-sided FBPS. Retrograde excision, beginning at the piriform apex, ensures complete removal of the tract and protection of the recurrent nerve. The posterior border of the thyroid ala must be resected or retracted for adequate exposure. Failure to remove the translaryngeal portion of the tract almost guarantees recurrence.

  10. Models of Inflammation: Carrageenan Air Pouch.

    PubMed

    Duarte, Djane B; Vasko, Michael R; Fehrenbacher, Jill C

    2016-03-18

    The subcutaneous air pouch is an in vivo model that can be used to study the components of acute and chronic inflammation, the resolution of the inflammatory response, the oxidative stress response, and potential therapeutic targets for treating inflammation. Injection of irritants into an air pouch in rats or mice induces an inflammatory response that can be quantified by the volume of exudate produced, the infiltration of cells, and the release of inflammatory mediators. The model presented in this unit has been extensively used to identify potential anti-inflammatory drugs.

  11. 31 CFR 538.516 - Diplomatic pouches.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... authorized: (a) The importation into the United States from Sudan, or the exportation from the United States to Sudan, of diplomatic pouches and their contents; and (b) The exportation or reexportation... technology to a third-country government, or to its contractors or agents, for shipment to Sudan via...

  12. 31 CFR 538.516 - Diplomatic pouches.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... authorized: (a) The importation into the United States from Sudan, or the exportation from the United States to Sudan, of diplomatic pouches and their contents; and (b) The exportation or reexportation... technology to a third-country government, or to its contractors or agents, for shipment to Sudan via...

  13. 31 CFR 538.516 - Diplomatic pouches.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... authorized: (a) The importation into the United States from Sudan, or the exportation from the United States to Sudan, of diplomatic pouches and their contents; and (b) The exportation or reexportation... technology to a third-country government, or to its contractors or agents, for shipment to Sudan via...

  14. 31 CFR 538.516 - Diplomatic pouches.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... authorized: (a) The importation into the United States from Sudan, or the exportation from the United States to Sudan, of diplomatic pouches and their contents; and (b) The exportation or reexportation... technology to a third-country government, or to its contractors or agents, for shipment to Sudan via...

  15. 31 CFR 538.516 - Diplomatic pouches.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... authorized: (a) The importation into the United States from Sudan, or the exportation from the United States to Sudan, of diplomatic pouches and their contents; and (b) The exportation or reexportation... technology to a third-country government, or to its contractors or agents, for shipment to Sudan via...

  16. 31 CFR 560.521 - Diplomatic pouches.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... authorized: (a) The importation into the United States from Iran, or the exportation from the United States to Iran, of diplomatic pouches and their contents; and (b) The exportation, reexportation, sale, or... goods or technology to a third-country government, or to its contractors or agents, for shipment to...

  17. 31 CFR 560.521 - Diplomatic pouches.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... authorized: (a) The importation into the United States from Iran, or the exportation from the United States to Iran, of diplomatic pouches and their contents; and (b) The exportation, reexportation, sale, or... goods or technology to a third-country government, or to its contractors or agents, for shipment to...

  18. 31 CFR 560.521 - Diplomatic pouches.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... authorized: (a) The importation into the United States from Iran, or the exportation from the United States to Iran, of diplomatic pouches and their contents; and (b) The exportation, reexportation, sale, or... goods or technology to a third-country government, or to its contractors or agents, for shipment to...

  19. 31 CFR 560.521 - Diplomatic pouches.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... authorized: (a) The importation into the United States from Iran, or the exportation from the United States to Iran, of diplomatic pouches and their contents; and (b) The exportation, reexportation, sale, or... goods or technology to a third-country government, or to its contractors or agents, for shipment to...

  20. 31 CFR 560.521 - Diplomatic pouches.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... authorized: (a) The importation into the United States from Iran, or the exportation from the United States to Iran, of diplomatic pouches and their contents; and (b) The exportation, reexportation, sale, or... goods or technology to a third-country government, or to its contractors or agents, for shipment to...

  1. Inflammatory pouch disease: The spectrum of pouchitis

    PubMed Central

    Zezos, Petros; Saibil, Fred

    2015-01-01

    Restorative proctocolectomy with ileal-pouch anal anastomosis (IPAA) is the operation of choice for medically refractory ulcerative colitis (UC), for UC with dysplasia, and for familial adenomatous polyposis (FAP). IPAA can be a treatment option for selected patients with Crohn’s colitis without perianal and/or small bowel disease. The term “pouchitis” refers to nonspecific inflammation of the pouch and is a common complication in patients with IPAA; it occurs more often in UC patients than in FAP patients. This suggests that the pathogenetic background of UC may contribute significantly to the development of pouchitis. The symptoms of pouchitis are many, and can include increased bowel frequency, urgency, tenesmus, incontinence, nocturnal seepage, rectal bleeding, abdominal cramps, and pelvic discomfort. The diagnosis of pouchitis is based on the presence of symptoms together with endoscopic and histological evidence of inflammation of the pouch. However, “pouchitis” is a general term representing a wide spectrum of diseases and conditions, which can emerge in the pouch. Based on the etiology we can sub-divide pouchitis into 2 groups: idiopathic and secondary. In idiopathic pouchitis the etiology and pathogenesis are still unclear, while in secondary pouchitis there is an association with a specific causative or pathogenetic factor. Secondary pouchitis can occur in up to 30% of cases and can be classified as infectious, ischemic, non-steroidal anti-inflammatory drugs-induced, collagenous, autoimmune-associated, or Crohn’s disease. Sometimes, cuffitis or irritable pouch syndrome can be misdiagnosed as pouchitis. Furthermore, idiopathic pouchitis itself can be sub-classified into types based on the clinical pattern, presentation, and responsiveness to antibiotic treatment. Treatment differs among the various forms of pouchitis. Therefore, it is important to establish the correct diagnosis in order to select the appropriate treatment and further

  2. Characterization of Commercial Li-ion Cells in Pouch Format

    NASA Technical Reports Server (NTRS)

    Jeevarajan, Judith

    2014-01-01

    The li-ion pouch design cells exhibit similar behavior under off-nominal conditions as those in metal cans that do not have the internal safety devices. Safety should be well characterized before batteries are designed. Some of the li-ion pouch cell designs studied in this program reacted most violently to overcharge conditions at the medium rates but were tolerant to overcharge at very low rates. Some pouch cell designs have higher tolerance to vacuum exposures than some others. A comparison of the pouch material itself does not show a correlation between this tolerance and the number of layers or composition of the pouch indicating that this is a property of the electrode stack design inside the pouch. Reduced pressure (8 to 10 psi) test environments show that the extent of capacity degradation under reduced pressure environments is much less than that observed under vacuum conditions. Lithium-ion Pouch format cells are not necessarily true polymer cells.

  3. [J-pouch after total gastrectomy].

    PubMed

    Prete, F; Montemurro, S; Rucci, A; Rinaldi, S; Liguori, P

    1992-04-01

    The Authors report their initial experience with the construction of a J-pouch as restorative surgery following total gastrectomy (TG) for malignant neoplasms. In the last 10 months of the 1990 upon 52 interventions for gastric cancer 31 TG were performed, and in 13 cases a J-pouch on the proximal end of the jejunal segment was constructed. No mortality or specific morbidity was registered using the totally stapled technique. Within one month 3/4 of the patients had normal meals as far as quantity and quality; also the foamy regurgitation seemed to be minimal. The ease of the reconstructive technique and the short term results obtained encourage the use of such approach.

  4. Malignant familial adenomatous polyposis treated by laparoscopic colectomy and ileal pouch anal anastomosis: a case report.

    PubMed

    Zaharie, Florin; Ciorogar, George; Zaharie, Roxana; Tantau, Marcel; Iancu, Cornel; Mocan, Lucian

    2014-12-01

    The mean age of colorectal cancer in untreated familial adenomatous polyposis (FAP) is 39 years. We present the case of a 21-year-old patient with FAP and colorectal cancer. The patient was detected with significant family history: her mother died at age 45 with colon cancer; two uncles were diagnosed with colon cancer at the age of 40 and 43 and one aunt at the age of 45 with colon cancer and gastric cancer. The treatment was laparoscopic restorative proctocolectomy with total excision of the mesorectum and ileal pouch anal anastomosis completed with endoanal excision of inferior rectal polyps. The histopathological report described a well differentiated rectal adenocarcinoma T1N1aMx developed on a tubulo-villous adenoma located on the rectosigmoid jonction, the rest of the polyps with benign histology.

  5. 21 CFR 876.5900 - Ostomy pouch and accessories.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... collection of fecal material or urine following an ileostomy, colostomy, or ureterostomy (a surgically... colostomy appliance, ostomy collector, colostomy pouch, urinary ileostomy bag, urine collecting...

  6. Repeat ileal pouch-anal anastomosis to salvage septic complications of pelvic pouches: clinical outcome and quality of life assessment.

    PubMed Central

    Fazio, V W; Wu, J S; Lavery, I C

    1998-01-01

    OBJECTIVE: To evaluate the outcome of repeat ileal pouch-anal anastomosis (IPAA) for septic complications of pelvic pouch surgery; to assess the relationship between diagnosis and outcome; to assess quality of life after surgery. SUMMARY BACKGROUND DATA: Pelvic and perineal sepsis due to ileal pouch-anal anastomotic leaks frequently results in pouch loss. Many surgeons believe that pelvic sepsis and/or dense pelvic fibrosis makes salvage surgery unsafe or that pouches salvaged under these circumstances may not function well. As a result, there are few studies of pouch salvage procedures for septic indications. METHODS: The authors reviewed records of Cleveland Clinic Foundation patients who had undergone repeat IPAA surgery after septic complications from previous pelvic pouch surgery and who had completed at least 6 months of follow-up. Final diagnoses included ulcerative colitis (n = 22), Crohn's disease (n = 10), indeterminate colitis (n = 1), and familial polyposis (n = 2). Patients with functioning pouches were interviewed about functional problems and quality of life using an in-house questionnaire and the validated SF-36 Health Survey. RESULTS: Of 35 patients, 30 (86%) had a functioning pouch 6 months after repeat IPAA. In 4 patients, complications led to pouch removal or fecal diversion. One patient declined stoma closure. Of the patients with mucosal ulcerative colitis (MUC), 95% (21/22) had a functioning pouch 6 months after surgery. For patients with Crohn's disease (CD) 60% (6/10) have maintained a functioning pouch. Of the 30 patients with functioning pouches, 17 (57%) rated their quality of life as either "good" or "excellent," the remaining 13 (43%) selected "fair" or "poor." All said they would choose repeat IPAA surgery again. An SF-36 Health Survey completed by all patients with a functioning pouch at follow-up showed a mean physical component scale of 46.4 and a mean mental component scale of 47.6, scores well within the normal limit. CONCLUSIONS

  7. Congenital Abnormalities

    MedlinePlus

    ... Listen Español Text Size Email Print Share Congenital Abnormalities Page Content Article Body About 3% to 4% ... of congenital abnormalities earlier. 5 Categories of Congenital Abnormalities Chromosome Abnormalities Chromosomes are structures that carry genetic ...

  8. Care of patients with stomas: the pouch change procedure.

    PubMed

    Rust, Julie

    This article discusses basic stoma care in relation to management of the pouch change procedure in a ward-based setting immediately following planned stoma-forming surgery. The article highlights psychological and practical preparation of the patient. It describes the equipment that is needed to change a pouch and examines the rationale and evidence base for the procedure.

  9. 21 CFR 876.5900 - Ostomy pouch and accessories.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 21 Food and Drugs 8 2014-04-01 2014-04-01 false Ostomy pouch and accessories. 876.5900 Section 876.5900 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED..., but excludes ostomy pouches which incorporate arsenic-containing compounds. (b) Classification....

  10. Embryo oxygenation in pipefish brood pouches: novel insights.

    PubMed

    Goncalves, Ines Braga; Ahnesjö, Ingrid; Kvarnemo, Charlotta

    2015-06-01

    The pipefish brood pouch presents a unique mode of parental care that enables males to protect, osmoregulate, nourish and oxygenate the developing young. Using a very fine O2 probe, we assessed the extent to which males of the broad-nosed pipefish (Syngnathus typhle) oxygenate the developing embryos and are able to maintain pouch fluid O2 levels when brooding in normoxia (100% O2 saturation) and hypoxia (40% O2 saturation) for 24 days. In both treatments, pouch fluid O2 saturation levels were lower compared with the surrounding water and decreased throughout the brooding period, reflecting greater offspring demand for O2 during development and/or decreasing paternal ability to provide O2 to the embryos. Male condition (hepatosomatic index) was negatively affected by hypoxia. Larger males had higher pouch fluid O2 saturation levels compared with smaller males, and levels were higher in the bottom section of the pouch compared with other sections. Embryo size was positively correlated with O2 availability, irrespective of their position in the pouch. Two important conclusions can be drawn from our findings. First, our results highlight a potential limitation to brooding within the pouch and dismiss the notion of closed brood pouches as well-oxygenated structures promoting the evolution of larger eggs in syngnathids. Second, we provide direct evidence that paternal care improves with male size in this species. This finding offers an explanation for the documented strong female preference for larger partners because, in terms of oxygenation, the brood pouch can restrict embryo growth.

  11. A convex urostomy pouch with adhesive border: a patient survey.

    PubMed

    McPhail, Jacqueline; Nichols, Thom; Menier, Melissa

    Patients previously using a standard-wear convex skin barrier urostomy pouch were invited by letter from a Dispensing Appliance Contractor to evaluate a similar pouching system, but with the addition of an extended-wear convex barrier and adhesive border. A total of 47 patients agreed to take part. Patients were asked to try three pouches and complete one evaluation form. Study participants found the addition of an extended-wear convex barrier and adhesive border, was easy to use, provided them with security and the potential for longer wear time.

  12. Congenital Hypothyroidism

    MedlinePlus

    ... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Pediatric Endocrine Society MedlinePlus (NIH) What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  13. Occurrence and structure of epipharyngeal pouches in bears (Ursidae)

    PubMed Central

    WEISSENGRUBER, G. E.; FORSTENPOINTNER, G.; KÜBBER-HEISS, A.; RIEDELBERGER, K.; SCHWAMMER, H.; GANZBERGER, K.

    2001-01-01

    The infrequent mention of epipharyngeal pouches occurring in some species of bears indicates the scarcity of morphological and functional knowledge about these structures. In order to provide precise morphological data on the structure of these remarkable formations and to verify their taxonomic utility, the pharyngeal regions of 1 spectacled bear and 3 brown bears were examined. All these individuals possessed epipharyngeal pouches, which are tubular, blind-ending outpouchings of the caudodorsal pharyngeal wall equipped with respiratory epithelium and a thick layer of elastic fibres. While the spectacled bear and Ursus arctos syriacus possessed a single pouch on the caudodorsal wall of the nasopharynx, in Ursus arctos and Ursus arctos beringianus 2 unequally sized pouches were present. Two additional sacs of smaller size, representing outpouchings of the lateral pharyngeal wall, occurred in the spectacled bear. These findings prove epipharyngeal pouches to be constant and unique morphological features of the family Ursidae, the anatomical features suggesting involvement in the respiratory system most probably in important aspects of ursid phonation. This is the first description of epipharyngeal pouches in the spectacled bear. PMID:11322723

  14. Potential role of mast cells in hamster cheek pouch carcinogenesis.

    PubMed

    Aromando, Romina F; Pérez, Miguel A; Heber, Elisa M; Trivillin, Verónica A; Tomasi, Víctor H; Schwint, Amanda E; Itoiz, María E

    2008-11-01

    During the process of activation, mast cells release products stored in their granules. Tryptase, a protease released from mast cell granules after activation, induces tumor cell proliferation through the activation of PAR-2 (protease activated receptor 2) on the plasma membrane of carcinoma cells. Chemical cancerization (DMBA) of the hamster cheek pouch is the most accepted model of oral cancer. However, there are no reports on the activation of mast cells during experimental carcinogenesis or on the correlation between mast cell activation and cell proliferation. The aim of the present study was to evaluate the potential effect of mast cells on the proliferation of epithelial cells at different times during the cancerization process. Paraffin serial sections of cancerized, tumor-bearing pouches were stained with Alcian Blue-Safranin to identify the different degrees of mast cell activation. Immunohistochemistry was performed to identify BrdU-positive cells to study tumor cell proliferation. Mast cells were counted and grouped into two categories: inactive mast cells AB-S+++ (red) and active mast cells AB+++S- (blue). Mast cell counts were performed in tumor stroma, base of the tumor (connective tissue immediately below the exophytic tumor), connective and muscle tissue underlying the cancerized epithelium (pouch wall) and adventitious tissue underlying the pouch wall. There was a significant increase in the number of mast cells at the base of tumors (p<0.001) compared to the number of mast cells in the wall of the pouch and in tumor stroma. In normal non-cancerized pouches, inactive mast cells were prevalent both in the wall (AB:S=1:2.15; p<0.001) and in the adventitious tissue (AB:S=1:1.6; p<0.004) of the hamster cheek pouch. At most of the experimental times examined, the ratio of active/inactive mast cells (AB/S) in the wall approximated unity and even reverted. The ratio of mast cells was AB:S 1:1.05 at the base of the tumor and 1:0.24 in tumor stroma (p<0

  15. Left Atrial Septal Pouch in Cryptogenic Stroke

    PubMed Central

    Wong, Jonathan M.; Lombardo, Dawn M.; Barseghian, Ailin; Dhoot, Jashdeep; Hundal, Harkawal S.; Salcedo, Jonathan; Paganini-Hill, Annlia; Wong, Nathan D.; Fisher, Mark

    2015-01-01

    Background: The left atrial septal pouch (LASP), an anatomic variant of the interatrial septum, has uncertain clinical significance. We examined the association between LASP and ischemic stroke subtypes in patients undergoing transesophageal echocardiography (TEE). Methods: We determined the prevalence of LASP among consecutive patients who underwent TEE at our institution. Patients identified with ischemic strokes were further evaluated for stroke subtype using standard and modified criteria from the Trial of Org 10172 in Acute Stroke Treatment (TOAST). We compared the prevalence of LASP in ischemic stroke, cryptogenic stroke, and non-stroke patients using prevalence ratios (PR). Results: The mean age of all 212 patients (including stroke and non-stroke patients) was 57 years. The overall prevalence of LASP was 17% (n = 35). Of the 75 patients who were worked-up for stroke at our institution during study period, we classified 31 as cryptogenic using standard TOAST criteria. The prevalence of LASP among cryptogenic stroke patients (using standard and modified TOAST criteria) was increased compared to the prevalence among other ischemic stroke patients (26 vs. 9%, p = 0.06; PR = 1.8, 95% CI = 1.1–3.1, and 30 vs. 10%, p = 0.04; PR = 2.2, 95% CI = 1.2–4.1, respectively). Conclusion: In this population of relatively young patients, prevalence of LASP was increased in cryptogenic stroke compared to stroke patients of other subtypes. These findings suggest LASP is associated with cryptogenic stroke, which should be verified by future large-scale studies. PMID:25852636

  16. Congenital hemangiomas.

    PubMed

    Boull, Christina; Maguiness, Sheilagh M

    2016-09-01

    Congenital hemangiomas are rare solitary vascular tumors that do not proliferate after birth. They are characterized as either rapidly involuting congenital hemangiomas (RICHs) or noninvoluting congenital hemangiomas (NICHs) based on their clinical progression. NICHs have no associated complications, but are persistent. RICH, while usually asymptomatic, may ulcerate or bleed early in their presentation, but involute quickly during the first few months of life. Hepatic RICHs are not associated with cutaneous RICHs, but may result in high-output cardiac failure due to arteriovenous or portovenous shunting. In the following review, the clinical characteristics and current management specific to congenital hemangiomas is discussed.

  17. Manufacturability of Heat and Serve Ration in Institutional Pouch System Analysis

    DTIC Science & Technology

    2006-09-01

    If a four-seal tester (designed to pressurize filled pouches by use of a hypodermic needle through the pouch wall) is used, all four seals can be...COMBAT RATION NETWORK FOR TECHNOLOGY IMPLEMENTATION Manufacturability of Heat and Serve Ration in Institutional Pouch “System Analysis ...5 ,QFOXGHDUHDFRGH August 2006 Final May 2005 - September 2006 Manufacturability of Heat and Serve Ration in Institutional Pouch System Analysis

  18. Using Giant African Pouched Rats ("Cricetomys Gambianus") to Detect Landmines

    ERIC Educational Resources Information Center

    Poling, Alan; Weetjens, Bart J.; Cox, Christophe; Beyene, Negussie W.; Sully, Andrew

    2010-01-01

    Within the past decade, giant pouched rats have been used successfully to detect landmines. This manuscript summarizes how these rats are trained and used operationally. The information provided is intended to be of practical value toward strengthening best practices in using "Cricetomys" for humanitarian purposes while simultaneously…

  19. 21 CFR 876.5900 - Ostomy pouch and accessories.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... attached to the patient's skin by an adhesive material and that is intended for use as a receptacle for... generic type of device and its accessories includes the ostomy pouch, ostomy adhesive, the disposable... bag, ostomy drainage bag with adhesive, stomal bag, ostomy protector, and the ostomy size...

  20. Pouch brooding marsupial frogs transfer nutrients to developing embryos.

    PubMed

    Warne, Robin W; Catenazzi, Alessandro

    2016-10-01

    Marsupial frogs have a unique reproductive mode in which females carry eggs enclosed in a sealed dorsal brood pouch. While most anurans are considered to be oviparous with lecithotrophic eggs, the extensively vascularized membrane of the brood pouch in marsupial frogs suggests potential opportunities for nutrient transfer. We tested for matrotrophy in the live-bearing Gastrotheca excubitor (Hemiphractidae), through feeding insects labelled with a (13)C-fatty acid and a (15)N-amino acid to brooding marsupial frogs. We observed significant increases of δ(13)C and δ(15)N in both maternal pouch tissues and embryos, suggesting nutrient transfer. Embryo dry mass also increased with developmental stage, providing further direct evidence for matrotrophy. These results suggest that in addition to gas exchange, the vascularized brood pouch membrane of G. excubitor also enables maternal nutrient transfer. This finding revealed a suspected but untested trait in the evolution of parental care in marsupial frogs, in contrast to previous work on Gastrotheca species that release tadpoles, and suggests greater complexity in reproductive and provisioning modes than previously thought.

  1. 21 CFR 876.5900 - Ostomy pouch and accessories.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... attached to the patient's skin by an adhesive material and that is intended for use as a receptacle for... generic type of device and its accessories includes the ostomy pouch, ostomy adhesive, the disposable... bag, ostomy drainage bag with adhesive, stomal bag, ostomy protector, and the ostomy size...

  2. 21 CFR 876.5900 - Ostomy pouch and accessories.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... attached to the patient's skin by an adhesive material and that is intended for use as a receptacle for... generic type of device and its accessories includes the ostomy pouch, ostomy adhesive, the disposable... bag, ostomy drainage bag with adhesive, stomal bag, ostomy protector, and the ostomy size...

  3. Common Inflammatory Disorders and Neoplasia of the Ileal Pouch: A Review of Histopathology

    PubMed Central

    Gonzalo, David Hernandez; Collinsworth, Amy L.; Liu, Xiuli

    2016-01-01

    Ileal pouch-anal anastomosis (IPAA) is the standard restorative procedure after proctocolectomy in patients with ulcerative colitis (UC) who require colectomy. The ileal pouch is susceptible to a variety of insults including mechanical injury, ischemia, fecal stasis, and infectious agents. In addition, the development of recurrent and idiopathic inflammatory bowel disease and neoplasia may occur in the ileal pouch. Although clinical, endoscopic, and radiographic examination can diagnose many ileal pouch diseases, histologic examination plays an essential role in diagnosis and management, particularly in cases with antibiotic refractory chronic pouchitis and pouch neoplasia. PMID:27785322

  4. [Congenital thrombophilia].

    PubMed

    Kojima, Tetsuhito

    2016-03-01

    Congenital thrombophilia is a thrombotic diathesis caused by a variety of genetic abnormalities in blood coagulation factors or their inhibitory factors associated with physiological thrombus formation. Patients with congenital thrombophilia often present with unusual clinical episodes of venous thrombosis (occasionally combined with pulmonary embolism, known as venous thromboembolism) at a young age and recurrence in atypical vessels, such as the mesenteric vein and superior sagittal sinus, often with a family history of this condition. Studies in Japan as well as in western countries have shown congenital thrombophilia to be caused by a wide variety of genetic abnormalities in natural anticoagulant proteins, such as antithrombin, protein C, and protein S. However, there may still be many unknown causes of hereditary thrombosis. We recently reported a case of hereditary thrombosis induced by a novel mechanism of antithrombin resistance, that is, congenital thrombophilia caused by a gain-of-function mutation in the gene encoding the coagulation factor prothrombin.

  5. Congenital cataract

    MedlinePlus

    ... Congenital and inherited cataracts. In: Tasman W, Jaeger EA, eds. Duane's Ophthalmology . 16th ed. Philadelphia, PA: Lippincott ... Cataracts and systemic disease. In: Tasman W, Jaeger EA, eds. Duane's Ophthalmology . 16th ed. Philadelphia, PA: Lippincott ...

  6. Congenital Myopathy

    MedlinePlus

    ... arms and legs, droopy eyelids, and problems with eye movements. Weakness often gets worse with time. Central core ... difficulties occur as well. Some children have weakened eye movements. Congenital fiber-type disproportion myopathy is a rare ...

  7. Congenital rubella

    MedlinePlus

    ... is infected with the virus that causes German measles. Congenital means the condition is present at birth. ... Gershon AA. Rubella virus (German measles). In: Mandell GL, Bennett JE, ... . 8th ed. Philadelphia, PA: Elsevier Churchill Livingstone; ...

  8. Congenital syphilis

    MedlinePlus

    Congenital lues; Fetal syphilis ... which is passed from mother to child during fetal development or at birth. Nearly half of all ... Saunders; 2014:chap 143. Duff P. Maternal and fetal infections. In: Creasy RK, Resnik R, Iams JD, ...

  9. [Congenital diarrhoea].

    PubMed

    Buda, Piotr; Friedman-Gruszczyńska, Joanna; Książyk, Janusz

    2011-01-01

    Congenital diarrhoea of heterogenic etiology is a rare cause of chronic diarrhoea. Characteristic features are: onset in the first weeks of life, life-threatening severe dehydratation and electrolyte disorders leading to a necessity of long-term parenteral nutrition. The clinical onset may be delayed and the degree of diarrhoea may be modest, making the diagnosis difficult. The main causes of congenital diarrhoea such as intestine electrolytes, carbohydrates, lipid and protein transport disorders and congenital enzymatic deficiencies, enterocyte polarization disorders, hormonal, immunological, metabolic, genetic and congenital anatomic disorders are presented in the paper. Some of them, such as: microvillus inclusion disease, tufting enteropathy, intestinal anedocrynosis, IPEX syndrome (immunodysregulation polyendocrinopathy enteropathy X-linked syndrome) have been described recently. One of the basic investigations, when congenital diarrhea is suspected, is general examination of the stool, its electrolyte concentration and serum electrolytes and blood gas analysis. Often, small bowel biopsy with histological examination (with the use of electronic microscopy and PAS staining) is indicated. In some cases molecular examination is possible and indicated. In differential diagnosis other, more frequent causes of chronic diarrhea of infancy, have to be excluded. In most of the cases of congenital diarrhoea there is no casual treatment available - usually long-term parenteral nutrition is necessary.

  10. Colon cancer

    MedlinePlus

    Colorectal cancer; Cancer - colon; Rectal cancer; Cancer - rectum; Adenocarcinoma - colon; Colon - adenocarcinoma ... In the United States, colorectal cancer is one of the leading causes of deaths due to cancer. Early diagnosis can often lead to a complete cure. Almost ...

  11. Neutron Imaging of Lithium Concentration in Battery Pouch Cells

    DTIC Science & Technology

    2011-06-01

    battery pouch cell is constructed based on the material densities and dimensions. This model is aug- mented with simulation of the neutron...the electrolyte solution limit the performance and longevity of the battery [2], [3]. The electrode material can be modeled as a distribution of...based and scalable battery models of the spatiotemporal varia- tions in lithium concentration throughout the electrode and electrolyte . Although

  12. A Portable Analyzer for Pouch-Actuated, Immunoassay Cassettes

    PubMed Central

    Qiu, Xianbo; Liu, Changchun; Mauk, Michael G.; Hart, Robert W.; Chen, Dafeng; Qiu, Jing; Kientz, Terry; Fiene, Jonathan; Bau, Haim H.

    2011-01-01

    A portable, small footprint, light, general purpose analyzer (processor) to control the flow in immunoassay cassettes and to facilitate the detection of test results is described. The durable analyzer accepts disposable cassettes that contain pouches and reaction chambers for various unit operations such as hydration of dry reagents, stirring, and incubation. The analyzer includes individually controlled, linear actuators to compress the pouches in the cassette, which facilitates the pumping and mixing of sample and reagents, and to close diaphragm-based valves for flow control. The same types of actuators are used to compress pouches and actuate valves. The analyzer also houses a compact OEM scanner/reader to excite fluorescence and detect emission from labels. The analyzer is hydraulically isolated from the cassette, reducing the possibility of cross-contamination. The analyzer facilitates programmable, automated execution of a sequence of operations such as pumping and valving in a timely fashion, reducing the level of expertise required from the operator and the possibility for errors. The analyzer’s design is modular and expandable to accommodate cassettes of various complexities and additional functionalities. In this paper, the utility of the analyzer has been demonstrated with the execution of a simple, consecutive, lateral flow assay of a model biological system and the test results were detected with up converting phosphor labels that are excited at infrared frequencies and emit in the visible spectrum. PMID:22125359

  13. The Kock pouch reconsidered: an alternative surgical technique.

    PubMed

    Crawshaw, Alison; Williams, Julia; Woodhouse, Fran

    The psychological impact stoma surgery can have on an individual is well documented within the literature (White and Hunt, 1997; Borwell, 2009; Williams, 2005; Brown, 2005). For many years, surgeons have explored and developed innovations in surgical techniques, in particular restorative procedures with a view of preventing permanent stoma formation; ileal anal pouch (IAP) now being the surgical procedure of choice for treatment of ulcerative colitis (UC) and familial adenomatous polyposis (FAP). However, high morbidity rates are associated with pouch longevity (Castillo et al 2005; Nessar and Wu, 2012) and once removed can lead to a high-output ileostomy with risks of electrolyte imbalance and malabsorption. This then creates the dilemma of whether the Kock pouch (KP) should be offered as a surgical option. This article offers a historical perspective of the KP and its place in the surgical management of UC and FAP. This article also presents results from a recent audit funded by the Ileostomy Association (IA), highlighting how patients manage their KP and the importance of maintaining bowel control and being free of an incontinent stoma as a means of coming to terms with their condition.

  14. [Congenital torticollis].

    PubMed

    Wicart, P

    2012-03-01

    Congenital torticollis is a very common postural deformity, characterized by a more or less severe retraction of sternocleidomastoid muscle. Any treatment, else that "good sense" counsels given to the parents, is indicated. The evolution is spontaneously favorable in the majority of cases before the age of one year old. The elimination of differential diagnosis (vertebral and/or neurological malformations, ocular, tumor) is the key-point. Screening of congenital hip dislocation is mandatory because the physiopathology is the same in both diseases. A remaining torticolis after 18 months of age may be an indication to sternocleidomastoid muscle lengthening.

  15. Lateral congenital anomalies of the pharyngeal apparatus: part II. anatomy of the abnormal for the surgeon.

    PubMed

    Mirilas, Petros

    2011-09-01

    "Anatomy of the abnormal"-a branch of surgical anatomy-deals with relations of an anomaly to surrounding entities. Here, lateral congenital anomalies of the pharyngeal apparatus are examined; their relations to entities of the neck can be explained embryologically. Location of embryonic pharyngeal arches, clefts, and pouches in the adult is presented and terminology of these anomalies (fistulas, sinuses, cysts) is defined. First "cleft and pouch" anomalies relate with the parotid and facial nerve. Second cleft and pouch anomalies course deeply to second arch structures and superficially to third arch structures. Consequently, they relate with hypoglossal and glossopharyngeal nerves and internal and external carotid arteries. Third cleft and pouch anomalies pass deep to third arch entities and superficial to those of the fourth arch and relate with glossopharyngeal, hypoglossal, superior and recurrent laryngeal nerves, and the internal carotid artery. The complicated course of fourth cleft and pouch anomalies brings them into relationship with glossopharyngeal, hypoglossal, superior and recurrent nerves, internal carotid, aorta, and subclavian arteries. Found superficially are veins (external and anterior jugular, common facial, communicating), nerves (transverse cervical, great auricular, mandibular, cervical branches of facial), and relevant spinal nerves (e.g., accessory). Knowledge of these anatomical relations helps prevent anatomical complications.

  16. Plasmodium berghei-Hamster Cheek Pouch Model for the Study of Severe Malaria

    DTIC Science & Technology

    1988-11-21

    rCFILE COY ] Plasmodium berghei-llansler Cheek Pouch Model for the study of Severe Malaria Lfl C) David R. Franz, Wallace B. Baze, G. David Young...PROGRAM PROJECT TASK WORK UNIT ELEMENT NO. NO. NO. ACCESSION NO. 11. TITLE (Include Security Classification) Plasmodium bergehei-Hamster Cheek Pouch Model...CODES 18. SUBJECT TERMS (Continue on reverse if necesry and identify by block number) FIELD GROUP SUB-GROUP Hamster cheek pouch, Plasmodium berghei

  17. [Congenital epulis].

    PubMed

    Braga-Tavares, H; Santos, H; M-Pinto, I; Ramos, M; de Sousa, P

    2009-01-01

    Congenital epulis or gingival granular cell tumor is an uncommon benign tumor, usually diagnosed at birth as a pediculated maxilar gingival mass. Although some cases of spontaneous regression have been described, most of the lesions are surgically removed with excelent prognosis and cosmetic final result. The authors describe a case report as well as a short revision on this pathology.

  18. Tracheomalacia - congenital

    MedlinePlus

    ... are floppy. Because the windpipe is the main airway, breathing difficulties begin soon after birth. Congenital tracheomalacia is very uncommon. Symptoms Symptoms can range from mild to severe, and may include: Breathing noises that may change with position and improve during ...

  19. Congenital Defects.

    ERIC Educational Resources Information Center

    Goldman, Allen S.; And Others

    There are two general categories (not necessarily mutually exclusive) of congenital defects: (1) abnormalities that have an hereditary basis, such as single and multiple genes, or chromosomal abberration; and (2) abnormalities that are caused by nonhereditary factors, such as malnutrition, maternal disease, radiation, infections, drugs, or…

  20. Congenital amusias.

    PubMed

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

    In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap."

  1. A review of complementary mechanisms which protect the developing marsupial pouch young.

    PubMed

    Edwards, M J; Hinds, L A; Deane, E M; Deakin, J E

    2012-06-01

    Marsupials are born without a functioning adaptive immune system, into a non-sterile environment where they continue to develop. This review examines the extent of exposure of pouch young to microorganisms and describes the protective mechanisms that are complementary to adaptive immunity in the developing young. Complementary protective mechanisms include the role of the innate immune system and maternal protection strategies, such as immune compounds in milk, prenatal transfer of immunoglobulins, antimicrobial compounds secreted in the pouch, and chemical or mechanical cleaning of the pouch and pouch young.

  2. Safety and Long-Term Performance of Lithium-ion Pouch Cells

    NASA Technical Reports Server (NTRS)

    Jeevarajan, Judith

    2012-01-01

    Lithium-ion batteries have the highest energy density of the batteries available in the commercial market today. Although most lithium-ion cell designs use a metal can design, this has changed significantly in recent years. Cell designs are offered in the pouch format as they offer better volumetric and gravimetric energy densities and in some cases, higher tolerance to abuse or off-nominal conditions. In the past decade, several state-of-the-art lithium-ion pouch cell designs have been tested. The pouch cell designs have become more robust in the past two years but there are still a few issues that need to be looked into for optimization. The pouch cells seem to have a tendency to swell when left in storage under ambient conditions. The cells also swell under overvoltage and undervoltage conditions. A significant issue that has been observed is the swelling of the cells under a vacuum condition which could lead to deformation of the cell pouch after this exposure. This last factor would be very critical in the use of these cell designs for space applications as vacuum exposure is used to check for cell and battery leaks before it is flown into space. In rare cases, corrosion of the aluminum layer of the pouches has been observed in stored cells. Pouch material analysis has been carried out in an effort to understand the strength of the pouches and determine if this is a factor in the corrosion as well as unsafe condition of the cells as deformation of the inner layers of the pouch could occur when the cells swell under the various conditions described above. Pouch materials are typically aluminized plastic, made up of a layer of Al sandwiched between one or more layers of polymeric material. Deformations or cell manufacturing processes could lead to a compromise of the inner polymeric layer/s of the pouch leading to the corrosion of the Al layer in the aluminized pouch material. The safety of the pouch cell designs has been determined for cells from various

  3. Parafilm-M®, An Available Cost-Effective Alternative for Immuno-blot Pouches.

    PubMed

    Quadri, Syed M S

    2015-01-01

    Commercially available standard immuno-blot pouches do play an efficient role in antibody incubation in performing an immuno-blot, but are not readily available in the laboratory and have to be specifically ordered. We have developed an equally efficient technique to make an immune-blot more cost-effective with more conservation of antibodies by using a common and readily available laboratory product Parafilm-M(®). Parafilm-M(®) which serves as a sealant for various items of laboratory equipment can be used for antibody incubation. Manually made Parafilm-M(®) pouch has a clear advantage over standard immuno-blot pouches in terms of availability, cost-effectiveness, and consumption of antibodies that ultimately reduces the cost of an immuno-blot. We have performed a series of experiments to check the efficacy of both the techniques. Samples with equal amount of protein were analyzed on separate SDS PAGE gels. The proteins were transferred electrophoretically to the nitrocellulose membrane using Trans-Blot(®) Turbo™ Mini Nitrocellulose Transfer Pack. Antibody incubation was done using standard immuno-blot pouch, standard container and Parafilm-M(®) sealed pouch. The expression of protein was determined and the results of immuno-blots were compared. We found that antibodies are binding the membrane in Parafilm-M(®) pouches as efficiently as in container method or in standard immuno-blot pouches. By restricting the membrane, the surface area of the manually made Parafilm-M(®) pouch can be reduced, less diluent is required to cover the membrane as a result less antibodies are consumed. We also calculated that each immuno-blot pouch cost around $0.1906, whereas the cost for Parafilm-M(®) pouch is 0.0695 which is almost one-third the price of an immuno-blot pouch. Thus, Parafilm-M(®) method distinctly provides a cost-effective solution for antibody incubation.

  4. The hamster cheek pouch model for field cancerization studies.

    PubMed

    Monti-Hughes, Andrea; Aromando, Romina F; Pérez, Miguel A; Schwint, Amanda E; Itoiz, Maria E

    2015-02-01

    External carcinogens, such as tobacco and alcohol, induce molecular changes in large areas of oral mucosa, which increase the risk of malignant transformation. This condition, known as 'field cancerization', can be detected in biopsy specimens using histochemical techniques, even before histological alterations are identified. The efficacy of these histochemical techniques as biomarkers of early cancerization must be demonstrated in appropriate models. The hamster cheek pouch oral cancer model, universally employed in biological studies and in studies for the prevention and treatment of oral cancer, is also an excellent model of field cancerization. The carcinogen is applied in solution to the surface of the mucosa and induces alterations that recapitulate the stages of cancerization in human oral mucosa. We have demonstrated that the following can be used for the early detection of cancerized tissue: silver staining of nucleolar organizer regions; the Feulgen reaction to stain DNA followed by ploidy analysis; immunohistochemical analysis of fibroblast growth factor-2, immunohistochemical labeling of proliferating cells to demonstrate an increase of epithelial cell proliferation in the absence of inflammation; and changes in markers of angiogenesis (i.e. those indicating vascular endothelial growth factor activity, endothelial cell proliferation and vascular density). The hamster cheek pouch model of oral cancer was also proposed and validated by our group for boron neutron capture therapy studies for the treatment of oral cancer. Clinical trials of this novel treatment modality have been performed and are underway for certain tumor types and localizations. Having demonstrated the efficacy of boron neutron capture therapy to control tumors in the hamster cheek pouch oral cancer model, we adapted the model for the long-term study of field cancerized tissue. We demonstrated the inhibitory effect of boron neutron capture therapy on tumor development in field

  5. Congenital scoliosis.

    PubMed

    Kose, Nusret; Campbell, Robert M

    2004-05-01

    The management of congenital scoliosis requires a systematic approach with careful attention to detail. Any fortuitous diagnosis of vertebral anomalies in infancy, even if there is no significant scoliosis at that time on x-ray, requires frequent clinical and radiographic follow-up to detect progression. The presence of associated anomalies of the spinal cord, the kidneys and the heart should be evaluated by MRI, renal ultrasound or IVP, with cardiology evaluation as indicated. Curve progression or severe vertebral anomalies known to cause curve progression require immediate treatment to prevent deformity. Significant thoracic deformity, especially in a patient with thoracic insufficiency syndrome, is best treated with expansion thoracoplasty. The patient with congenital scoliosis requires a long term commitment to care with frequent orthopaedic follow-up throughout the growing years along with routine pulmonary function assessment once the patient is able to cooperate with testing.

  6. [Congenital ranula].

    PubMed

    Marques, Maria Inês; Morais, Sofia; Coutinho, Sílvia; de Castro, Ochoa; Rei, Ana Isabel

    2010-01-01

    The authors describe a case of congenital ranula diagnosed by a routine prenatal ultrasonography at 21 weeks of gestation. The fetal kariotype was normal. Follow-up ultrasound scans revealed no changes in the size or the position of the cyst. Fetal growth was normal as was the amniotic fluid volume. Surgical treatment was performed 3 days after a normal vaginal delivery, with excellent results.

  7. Congenital Hydrocephalus.

    PubMed

    Estey, Chelsie M

    2016-03-01

    There are several types of hydrocephalus, which are characterized based on the location of the cerebrospinal fluid (CSF) accumulation. Physical features of animals with congenital hydrocephalus may include a dome-shaped skull, persistent fontanelle, and bilateral ventrolateral strabismus. Medical therapy involves decreasing the production of CSF. The most common surgical treatment is placement of a ventriculoperitoneal shunt. Postoperative complications may include infection, blockage, drainage abnormalities, and mechanical failure.

  8. [Congenital aniridia].

    PubMed

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

    Aniridia is a rare congenital, hereditary, bilateral disease which is associated with various systemic and ocular defects. We present the case of a 61 year old patient who was admitted in the hospital of ophthalmology Cluj Napoca, for the symptoms caused by the ocular defects associated with aniridia. In this case, aniridia is autosomal dominant transmitted with incomplete penetrance and it is not accompanied by any systemic defects. The disease also affects three of her sons and two nephews of the patient.

  9. Tunguska, 1908: the gas pouch and soil fluidization hypothesis

    NASA Astrophysics Data System (ADS)

    Nistor, I.

    2012-01-01

    The Siberian taiga explosion of 30 June 1908 remains one of the great mysteries of the 20th century: millions of trees put down over an area of 2200 km2 without trace of a crater or meteorite fragments. Hundred years of failed searches have followed, resulting in as many flawed hypothesis which could not offer satisfactory explanations: meteorite, comet, UFO, etc. In the author's opinion, the cause is that the energy the explorers looked for was simply not there! The author's hypothesis is that a meteoroid encountered a gas pouch in the atmosphere, producing a devastating explosion, its effects being amplified by soil fluidization.

  10. Scintigraphic Small Intestinal Transit Time and Defaecography in Patients with J-Pouch.

    PubMed

    Kjaer, Mie Dilling; Simonsen, Jane Angel; Hvidsten, Svend; Kjeldsen, Jens; Gerke, Oke; Qvist, Niels

    2015-10-10

    Objective methods for examination of pouch function are warranted for a better understanding of the functional result and treatment of dysfunction. The objective of this study was to evaluate the results of scintigraphic intestinal transit time and defaecography compared to the results of pouch function, mucosal condition and a questionnaire on quality of life (QoL). This cross-sectional study included 21 patients. Scintigraphic transit time and defaecography was determined with the use of Tc-99m. Pouch function was assessed by number of bowel movements, pouch volume, and continence. Pouch mucosal condition was evaluated by endoscopy and histology. Median transit time was 189 min (105-365). Median ejection fraction at defaecography (EF) was 49% (3-77) and 62% (17-98) after first and second defecation. Median pouch volume was 223 mL (100-360). A median daily stool frequency of nine (4-25) was reported and three (14%) patients suffered from daytime incontinence. No patients had symptomatic or endoscopic pouchitis; however, the histology showed unspecific inflammation in 19 (90%) patients. There was no correlation between transit time, evacuation fraction (EF) and pouch function in univariate analysis. However, we found a high body mass index (BMI) and a low bowel movement frequency to be associated with a longer transit time by multivariate analysis. Scintigraphic determination of transit time and defaecography are feasible methods in patients with ileal pouch anal anastomosis, but the clinical relevance is yet doubtful.

  11. Scintigraphic Small Intestinal Transit Time and Defaecography in Patients with J-Pouch

    PubMed Central

    Kjaer, Mie Dilling; Simonsen, Jane Angel; Hvidsten, Svend; Kjeldsen, Jens; Gerke, Oke; Qvist, Niels

    2015-01-01

    Objective methods for examination of pouch function are warranted for a better understanding of the functional result and treatment of dysfunction. The objective of this study was to evaluate the results of scintigraphic intestinal transit time and defaecography compared to the results of pouch function, mucosal condition and a questionnaire on quality of life (QoL). This cross-sectional study included 21 patients. Scintigraphic transit time and defaecography was determined with the use of Tc-99m. Pouch function was assessed by number of bowel movements, pouch volume, and continence. Pouch mucosal condition was evaluated by endoscopy and histology. Median transit time was 189 min (105–365). Median ejection fraction at defaecography (EF) was 49% (3–77) and 62% (17–98) after first and second defecation. Median pouch volume was 223 mL (100–360). A median daily stool frequency of nine (4–25) was reported and three (14%) patients suffered from daytime incontinence. No patients had symptomatic or endoscopic pouchitis; however, the histology showed unspecific inflammation in 19 (90%) patients. There was no correlation between transit time, evacuation fraction (EF) and pouch function in univariate analysis. However, we found a high body mass index (BMI) and a low bowel movement frequency to be associated with a longer transit time by multivariate analysis. Scintigraphic determination of transit time and defaecography are feasible methods in patients with ileal pouch anal anastomosis, but the clinical relevance is yet doubtful. PMID:26854162

  12. Pharyngeal neuromuscular dysfunction associated with bilateral guttural pouch tympany in a foal

    PubMed Central

    Bell, Chris

    2007-01-01

    A 2-month-old warmblood filly was presented for a 1-week history of a large, nonpainful, fluctuant swelling of the parotid and laryngeal area. Bilateral guttural pouch tympany was diagnosed. Surgical correction resolved the guttural pouch tympany; however, postoperative pharyngeal neuromuscular dysfunction developed. PMID:17334035

  13. A mouse air pouch model for evaluating the immune response to Taenia crassiceps infection.

    PubMed

    Gaspar, Emanuelle B; Sakai, Yuriko I; Gaspari, Elizabeth De

    2014-02-01

    The experimental system of Taenia crassiceps cysticerci infection in BALB/c mice is considered to be the most representative model of cysticercosis. In our work, mice were sacrificed 7 and 30days after infection, and pouch fluid was collected to determine the number of accumulated cells and the concentrations of IFNγ, IL-2, IL-4, IL-6, IL-10 and nitric oxide. The injection of 50 nonbudding cysticerci into normal mouse dorsal air pouches induced a high level of IFNγ and nitric oxide production relative to the parasite load. The air pouch provides a convenient cavity that allows studying the cellular immunological aspects of the T. crassiceps parasite. The nonbudding cysticerci recovered from the air pouches contained cells that can reconstitute complete cysts in the peritoneal cavity of mice. In conclusion, these results demonstrate that the air pouch model is an alternative tool for the evaluation of the immune characteristics of T. crassiceps infection.

  14. High Capacity Pouch-Type Li-air Batteries

    SciTech Connect

    Wang, Deyu; Xiao, Jie; Xu, Wu; Zhang, Jiguang

    2010-05-05

    The pouch-type Li-air batteries operated in ambient condition are reported in this work. The battery used a heat sealable plastic membrane as package material, O2¬ diffusion membrane and moisture barrier. The large variation in internal resistance of the batteries is minimized by a modified separator which can bind the cell stack together. The cells using the modified separators show improved and repeatable discharge performances. It is also found that addition of about 20% of 1,2-dimethoxyethane (DME) in PC:EC (1:1) based electrolyte solvent improves can improve the wetability of carbon electrode and the discharge capacities of Li-air batteries, but further increase in DME amount lead to a decreased capacity due to increase electrolyte loss during discharge process. The pouch-type Li-air batteries with the modified separator and optimized electrolyte has demonstrated a specific capacity of 2711 mAh g-1 based on carbon and a specific energy of 344 Wh kg-1 based on the complete batteries including package.

  15. Cheek pouch use in relation to interspecific competition and predator risk for three guenon monkeys (Cercopithecus spp.).

    PubMed

    Buzzard, Paul J

    2006-10-01

    Forest guenons (Cercopithecus spp.) are often found in polyspecific associations that may decrease predator risk while increasing interspecific competition for food. Cheek pouch use may mitigate interspecific competition and predator risk by reducing the time spent in areas of high competition/predator risk. I investigated these ideas in three forest guenons: Campbell's monkey (Cercopithecus campbelli), spot-nosed monkey (C. petaurista), and Diana monkey (C. diana). I present 13 months of scan sample data from Taï Forest, Côte d'Ivoire, including 3,675, 3,330, and 5,689 records of cheek pouch distention, to quantify cheek pouch use, for Campbell's, spot-nosed, and Diana monkeys, respectively. Cheek pouches are often used to hold fruit, so I first predicted that the most frugivorous species, Diana monkeys, would have the most cheek pouch distension. Spot-nosed monkeys ate the least amount of fruit over the study period and had the least distended cheek pouches, suggesting the importance of frugivory in relation to cheek pouch distension for this species. This was not a sufficient explanation for Campbell's monkeys; Campbell's ate fruit less than Diana monkeys, but had more distended cheek pouches, suggesting that cheek pouch use was not simply a reflection of high frugivory. From the interspecific competition hypothesis, I predicted that Campbell's monkeys would have more distended cheek pouches than Diana and spot-nosed monkeys, and more distended cheek pouches when associated with Diana because Campbell's monkeys have the highest potential for interspecific competition with dominant Diana monkeys. From the predator risk hypothesis, I predicted that Campbell's would have more distended cheek pouches when not associated with highly vigilant Diana monkeys. Campbell's monkeys had the most distended cheek pouches overall, but had more distended cheek pouches when not in association with Diana, suggesting the greater importance of predator risk rather than

  16. Congenital anomalies

    PubMed Central

    Kunisaki, Shaun M.

    2012-01-01

    Over the past decade, amniotic fluid-derived stem cells have emerged as a novel, experimental approach for the treatment of a wide variety of congenital anomalies diagnosed either in utero or postnatally. There are a number of unique properties of amniotic fluid stem cells that have allowed it to become a major research focus. These include the relative ease of accessing amniotic fluid cells in a minimally invasive fashion by amniocentesis as well as the relatively rich population of progenitor cells obtained from a small aliquot of fluid. Mesenchymal stem cells, c-kit positive stem cells, as well as induced pluripotent stem cells have all been derived from human amniotic fluid in recent years. This article gives a pediatric surgeon’s perspective on amniotic fluid stem cell therapy for the management of congenital anomalies. The current status in the use of amniotic fluid-derived stem cells, particularly as they relate as substrates in tissue engineering-based applications, is described in various animal models. A roadmap for further study and eventual clinical application is also proposed. PMID:22986340

  17. Congenital Toxoplasmosis

    PubMed Central

    McAuley, James B.

    2014-01-01

    Toxoplasmosis is caused by infection with the parasite Toxoplasma gondii. It is one of the most common parasitic infections in humans and is most typically asymptomatic. However, primary infection in a pregnant woman can cause severe and disabling disease in the developing fetus. Recent developments have included increased understanding of the role of parasite genotype in determining infectivity and disease severity. Risk factors for acquisition of infection have been better defined, and the important role of foodborne transmission has been further delineated. In addition, strategies have emerged to decrease mother-to-child transmission through prompt identification of acutely infected pregnant women followed by appropriate treatment. Refined diagnostic tools, particularly the addition of immunoglobulin G avidity testing, allow for more accurate timing of maternal infection and hence better decision making during pregnancy. Congenitally infected children can be treated, beginning in utero and continuing through the first year of life, to ameliorate the severity of disease. However, despite these many advances in our understanding of congenital toxoplasmosis prevention and treatment, significant areas of study remain: we need better drugs, well defined strategies for screening of pregnant women, improved food safety, and improved diagnostic tests. PMID:25232475

  18. Squamous Cell Carcinoma of the Anal Transitional Zone after Ileal Pouch Surgery for Ulcerative Colitis: Systematic Review and Treatment Perspectives

    PubMed Central

    Pellino, Gianluca; Kontovounisios, Christos; Tait, Diana; Nicholls, John; Tekkis, Paris P.

    2017-01-01

    Background Few cases of pouch-related cancers have been reported in ulcerative colitis (UC), and squamous cell carcinoma (SCC) is very rare. Method A systematic review of the literature was performed to identify all unequivocal cases of pouch-related SCC in UC patients. Results Eight cases of SCC developing after ileal pouch-anal anastomosis (IPAA) have been observed since 1978. Two arose from the pouch mucosa and 6 from below. The pooled cumulative incidence of SCC is below 0.06% after IPAA. Many patients had neoplasia on the preoperative specimen, but squamous metaplasia of the pouch or anorectal mucosa may have an important role in SCC. These patients are rarely offered chemoradiation therapy and the outcome is poor. Selected patients with SCC located close to the pouch outlet can be treated with chemoradiation prior to consideration of surgery and salvage their pouch. A chemoradiation regimen is suggested to avoid pouch excision in these patients. Conclusions SCC is rare after pouch surgery but associated with extremely poor survival. Very low SCC can be managed with chemoradiation treatment, preserving the pouch and avoiding surgery, even in older patients. The role of pouch metaplasia, surveillance frequency, and treatment modalities after IPAA need further studying. PMID:28203173

  19. Tubular Colonic Duplication Presenting as Rectovestibular Fistula.

    PubMed

    Karkera, Parag J; Bendre, Pradnya; D'souza, Flavia; Ramchandra, Mukunda; Nage, Amol; Palse, Nitin

    2015-09-01

    Complete colonic duplication is a very rare congenital anomaly that may have different presentations according to its location and size. Complete colonic duplication can occur in about 15% of all gastrointestinal duplications. Double termination of tubular colonic duplication in the perineum is even more uncommon. We present a case of a Y-shaped tubular colonic duplication which presented with a rectovestibular fistula and a normal anus. Radiological evaluation and initial exploration for sigmoidostomy revealed duplicated colons with a common vascular supply. Endorectal mucosal resection of theduplicated distal segment till the colostomy site with division of the septum of the proximal segment and colostomy closure proved curative without compromise of the continence mechanism. Tubular colonic duplication should always be ruled out when a diagnosis of perineal canal is considered in cases of vestibular fistula alongwith a normal anus.

  20. Tubular Colonic Duplication Presenting as Rectovestibular Fistula

    PubMed Central

    Bendre, Pradnya; D'souza, Flavia; Ramchandra, Mukunda; Nage, Amol; Palse, Nitin

    2015-01-01

    Complete colonic duplication is a very rare congenital anomaly that may have different presentations according to its location and size. Complete colonic duplication can occur in about 15% of all gastrointestinal duplications. Double termination of tubular colonic duplication in the perineum is even more uncommon. We present a case of a Y-shaped tubular colonic duplication which presented with a rectovestibular fistula and a normal anus. Radiological evaluation and initial exploration for sigmoidostomy revealed duplicated colons with a common vascular supply. Endorectal mucosal resection of theduplicated distal segment till the colostomy site with division of the septum of the proximal segment and colostomy closure proved curative without compromise of the continence mechanism. Tubular colonic duplication should always be ruled out when a diagnosis of perineal canal is considered in cases of vestibular fistula alongwith a normal anus. PMID:26473141

  1. Development of Stainless Steel Laminate Li-Ion Pouch Cell for Space Application

    NASA Astrophysics Data System (ADS)

    Ooto, Hiroki; Koide, Kazuya; Ohira, Kenji; Yamamoto, Masahiro; Abe, Hidetoshi; Toyota, Hiroyuki; Shimada, Takanobu; Takahashi, Yu; Hirose, Kazuyuki

    2014-08-01

    This paper describes the development of stainless steel laminate Li-ion pouch battery cells for space application. Currently, the cells have a high specific energy of 118 Wh/kg for 10-Ah cells at the moment. Unlike conventional Li-ion pouch cells for terrestrial use, where the casing is made of aluminum laminate, Li-ion pouch cells made with stainless steel laminate neither expand nor lose their capacity after charge/discharge cycles in vacuum. The results of a mechanical environment test show that the cell also meet the requirements for vibration and pyroshock tolerance during launch.

  2. A Novel Lithium-ion Laminated Pouch Cell Tested For Performance And Safety

    NASA Technical Reports Server (NTRS)

    Jeevarajan, Judith A.; Inoue, Takefumi

    2006-01-01

    A new Li-ion 4.0 Ah pouch cell from GS Yuasa has been tested to determine its performance and safety. The cell is of a laminate pouch design with liquid electrolyte. The rate, thermal and vacuum performance capabilities have been tested to determine the optimum parameters. Under vacuum conditions, the cells were cycled under restrained and unrestrained configurations. The burst pressure of the laminate pouch was also determined. The overcharge, overdischarge into reversal and external short circuit safety tests were also performed to determine the cell s tolerance to abuse. Key Words: Li-ion, safety, vacuum test, abuse, COTS batteries, rate capability

  3. The effect of distending a pouch of the left atrium on the heart rate

    PubMed Central

    Ledsome, J. R.; Linden, R. J.

    1967-01-01

    1. A pouch has been prepared consisting of a part of the wall of the left atrium together with the left pulmonary vein—atrial junctions. 2. An increase of perfusion pressure in the pouch caused a reflex increase in heart rate. 3. The afferent path of the reflex was in the vagus nerves and the efferent path was in the sympathetic nerves. 4. The receptors most likely to be stimulated by an increase in pressure in the pouch are those receptors situated in the subendocardium of the pulmonary vein—left atrial junctions. PMID:16992279

  4. Carcinoid tumor of the ileoanal pouch in a patient with ulcerative colitis.

    PubMed

    Resnick, Murray; Pricolo, Victor; Chen, Sonja

    2013-01-04

    Carcinoid tumors have been reported to occur in various locations, particularly in the gastrointestinal tract. The relationship between the development of carcinoids and ulcerative colitis has been an unclear and controversial one. The association of ulcerative colitis and the development of ileal-pouch carcinoids has not, however, been well documented. We report a case of carcinoid tumor arising in an ileoanal pouch and discuss its unique diagnostic and therapeutic considerations.

  5. High-G Verification of Lithium-Polymer (Li-Po) Pouch Cells

    DTIC Science & Technology

    2016-05-19

    UNCLASSIFIED UNCLASSIFIED AD-E403 766 Technical Report ARMET-TR-15067 HIGH-G VERIFICATION OF LITHIUM- POLYMER (LI-PO) POUCH...TITLE AND SUBTITLE HIGH-G VERIFICATION OF LITHIUM- POLYMER (LI-PO) POUCH CELLS 5a. CONTRACT NUMBER 5b. GRANT NUMBER 5c. PROGRAM ELEMENT... ORGANIZATION NAME(S) AND ADDRESS(ES) U.S. Army ARDEC, METC Fuze & Precision Armaments Technology Directorate (RDAR-MEF-I) Picatinny Arsenal, NJ 07806

  6. Congenital anomalies associated with congenital hypothyroidism.

    PubMed

    Stoll, C; Dott, B; Alembik, Y; Koehl, C

    1999-01-01

    The French national neonatal screening program for congenital hypothyroidism (CH) was initiated in 1978. The purpose of this study was to ascertain the incidence of congenital extrathyroid anomalies (ETAs) among the infants with congenital hypothyroidism (CH) and to compare it with the Northeastern France Birth Defect Monitoring System data from 1979 to 1996. Among 129 CH infants on whom adequate data were available, 20 infants (15.5%) had associated congenital anomalies. Eight out of 76 infants with persistent CH had ETAs (10.5%) whereas 12 out of 53 children with transient hypothyroidism had ETAs (22.6%, p < 0.05). Some additional anomalies were considerably more common than in the general population. Nine infants had congenital cardiac anomalies (6.9%). This rises the question if teratogenic effects active during organogenesis may affect simultaneously many organs, including the developing thyroid, causing a relatively high percentage of CH infants with congenital ETAs.

  7. Seahorse Brood Pouch Transcriptome Reveals Common Genes Associated with Vertebrate Pregnancy.

    PubMed

    Whittington, Camilla M; Griffith, Oliver W; Qi, Weihong; Thompson, Michael B; Wilson, Anthony B

    2015-12-01

    Viviparity (live birth) has evolved more than 150 times in vertebrates, and represents an excellent model system for studying the evolution of complex traits. There are at least 23 independent origins of viviparity in fishes, with syngnathid fishes (seahorses and pipefish) unique in exhibiting male pregnancy. Male seahorses and pipefish have evolved specialized brooding pouches that provide protection, gas exchange, osmoregulation, and limited nutrient provisioning to developing embryos. Pouch structures differ widely across the Syngnathidae, offering an ideal opportunity to study the evolution of reproductive complexity. However, the physiological and genetic changes facilitating male pregnancy are largely unknown. We used transcriptome profiling to examine pouch gene expression at successive gestational stages in a syngnathid with the most complex brood pouch morphology, the seahorse Hippocampus abdominalis. Using a unique time-calibrated RNA-seq data set including brood pouch at key stages of embryonic development, we identified transcriptional changes associated with brood pouch remodeling, nutrient and waste transport, gas exchange, osmoregulation, and immunological protection of developing embryos at conception, development and parturition. Key seahorse transcripts share homology with genes of reproductive function in pregnant mammals, reptiles, and other live-bearing fish, suggesting a common toolkit of genes regulating pregnancy in divergent evolutionary lineages.

  8. Restorative proctocolectomy with ileal pouch-anal anastomosis for ulcerative colitis: A narrative review

    PubMed Central

    Sofo, Luigi; Caprino, Paola; Sacchetti, Franco; Bossola, Maurizio

    2016-01-01

    Restorative proctocolectomy with ileal pouch-anal anastomosis (RP-IPAA) is the gold standard surgical treatment for ulcerative colitis. However, despite the widespread use of RP-IPAA, many aspects of this treatment still remain controversial, such as the approach (open or laparoscopic), number of stages in the surgery, type of pouch, and construction type (hand-sewn or stapled ileal pouch-anal anastomosis). The present narrative review aims to discuss current evidence on the short-, mid-, and long-term results of each of these technical alternatives as well as their benefits and disadvantages. A review of the MEDLINE, EMBASE, and Ovid databases was performed to identify studies published through March 2016. Few large, randomized, controlled studies have been conducted, which limits the conclusions that can be drawn regarding controversial issues. The available data from retrospective studies suggest that laparoscopic surgery has no clear advantages compared with open surgery and that one-stage RP-IPAA may be indicated in selected cases. Regarding 2- and 3-stage RP-IPAA, patients who underwent these surgeries differed significantly with respect to clinical and laboratory variables, making any comparisons extremely difficult. The long-term results regarding the pouch type show that the W- and J-reservoirs do not differ significantly, although the J pouch is generally preferred by surgeons. Hand-sewn and stapled ileal pouch-anal anastomoses have their own advantages, and there is no clear benefit of one technique over the other. PMID:27648159

  9. Restorative proctocolectomy with ileal pouch-anal anastomosis for ulcerative colitis: A narrative review.

    PubMed

    Sofo, Luigi; Caprino, Paola; Sacchetti, Franco; Bossola, Maurizio

    2016-08-27

    Restorative proctocolectomy with ileal pouch-anal anastomosis (RP-IPAA) is the gold standard surgical treatment for ulcerative colitis. However, despite the widespread use of RP-IPAA, many aspects of this treatment still remain controversial, such as the approach (open or laparoscopic), number of stages in the surgery, type of pouch, and construction type (hand-sewn or stapled ileal pouch-anal anastomosis). The present narrative review aims to discuss current evidence on the short-, mid-, and long-term results of each of these technical alternatives as well as their benefits and disadvantages. A review of the MEDLINE, EMBASE, and Ovid databases was performed to identify studies published through March 2016. Few large, randomized, controlled studies have been conducted, which limits the conclusions that can be drawn regarding controversial issues. The available data from retrospective studies suggest that laparoscopic surgery has no clear advantages compared with open surgery and that one-stage RP-IPAA may be indicated in selected cases. Regarding 2- and 3-stage RP-IPAA, patients who underwent these surgeries differed significantly with respect to clinical and laboratory variables, making any comparisons extremely difficult. The long-term results regarding the pouch type show that the W- and J-reservoirs do not differ significantly, although the J pouch is generally preferred by surgeons. Hand-sewn and stapled ileal pouch-anal anastomoses have their own advantages, and there is no clear benefit of one technique over the other.

  10. Congenital Heart Disease in Adults

    MedlinePlus

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

  11. Congenital myopathies

    PubMed Central

    Colombo, Irene; Scoto, Mariacristina; Manzur, Adnan Y.; Robb, Stephanie A.; Maggi, Lorenzo; Gowda, Vasantha; Cullup, Thomas; Yau, Michael; Phadke, Rahul; Sewry, Caroline; Jungbluth, Heinz

    2015-01-01

    Objective: To assess the natural history of congenital myopathies (CMs) due to different genotypes. Methods: Retrospective cross-sectional study based on case-note review of 125 patients affected by CM, followed at a single pediatric neuromuscular center, between 1984 and 2012. Results: Genetic characterization was achieved in 99 of 125 cases (79.2%), with RYR1 most frequently implicated (44/125). Neonatal/infantile onset was observed in 76%. At birth, 30.4% required respiratory support, and 25.2% nasogastric feeding. Twelve percent died, mainly within the first year, associated with mutations in ACTA1, MTM1, or KLHL40. All RYR1-mutated cases survived and did not require long-term ventilator support including those with severe neonatal onset; however, recessive cases were more likely to require gastrostomy insertion (p = 0.0028) compared with dominant cases. Independent ambulation was achieved in 74.1% of all patients; 62.9% were late walkers. Among ambulant patients, 9% eventually became wheelchair-dependent. Scoliosis of variable severity was reported in 40%, with 1/3 of (both ambulant and nonambulant) patients requiring surgery. Bulbar involvement was present in 46.4% and required gastrostomy placement in 28.8% (at a mean age of 2.7 years). Respiratory impairment of variable severity was a feature in 64.1%; approximately half of these patients required nocturnal noninvasive ventilation due to respiratory failure (at a mean age of 8.5 years). Conclusions: We describe the long-term outcome of a large cohort of patients with CMs. While overall course is stable, we demonstrate a wide clinical spectrum with motor deterioration in a subset of cases. Severity in the neonatal/infantile period is critical for survival, with clear genotype-phenotype correlations that may inform future counseling. PMID:25428687

  12. Experimental modal analysis of lithium-ion pouch cells

    NASA Astrophysics Data System (ADS)

    Hooper, James Michael; Marco, James

    2015-07-01

    If future electric and hybrid electric vehicle batteries are to be designed such that the impact of vibration induced resonance is minimized, engineers tasked with the design of the vehicle's energy storage system must have a rigorous understanding of key system attributes such as the natural frequencies of the cell, the level of damping present and the mode shapes induced within the battery under mechanical load. This paper describes the underpinning theory and experimental method employed when using the impulse excitation technique to quantify the natural frequencies and mode shapes of a commercially available 25 Ah Nickel Manganese Cobalt Oxide (NMC) Laminate Pouch Cell. Experimental results are presented for fifteen cells at five different values of state of charge (SOC). The results indicate that irrespective of the energy content within the cell, the same four modes of vibration (torsion and bending) exist within a frequency range of 191 Hz-360 Hz. This is above the frequency range (0-150 Hz) typically associated with road-induced vibration. The results also indicate that the cell's natural frequencies of vibration and damping do not vary with changing values of SOC.

  13. Inheritance of guttural pouch tympany in the arabian horse.

    PubMed

    Blazyczek, I; Hamann, H; Ohnesorge, B; Deegen, E; Distl, O

    2004-01-01

    The objective of the present study was to analyze the mode of inheritance of guttural pouch tympany (GPT) using pedigrees of Arabian horses. Complex segregation analyses were employed to test for the significance of nongenetic transmission and for monogenic, polygenic, and mixed monogenic-polygenic modes of inheritance. Horses affected by GPT comprised 27 Arabian purebred foals. Of these 27 animals, 22 were patients at the Clinic for Horses, School of Veterinary Medicine Hannover, Hannover, Germany, between 1994 and 2001 and 5 Arabian foals were from stud farms. Information on the pedigrees of these patients allowed us to classify the affected foals into four families with a total of 276 animals. The regressive logistic model analysis took into account the nonrandomness of the pedigrees through multiple single ascertainment correction. The complex segregation analysis showed that, among all other models employed, a polygenic and a mixed monogenic-polygenic model best explained the segregation of Arabian foals with GPT. Models including only nongenetic distributions and monogenic inheritance could be significantly rejected. This is the first report in which a genetic component could be shown to be responsible for GPT in horses.

  14. [Genetics of congenital cardiopathies].

    PubMed

    Moreno García, M; Gómez Rodríguez, M J; Barreiro Miranda, E

    2000-07-01

    Congenital heart malformations are the most common of all birth defects, affecting 0.5-1% of all live births. Some of these malformations are due to genetic anomalies. Patterns of autosomal dominant, autosomal recessive and X-linked inheritance have been described. Mitochondrial inheritance and chromosomal anomalies can also be responsible for congenital heart malformations. Several genes for congenital heart defects have been identified. We review current knowledge on the genetic etiology of congenital heart disease.

  15. Primary colonic lymphoma.

    PubMed

    Gonzalez, Quintín H; Heslin, Martin J; Dávila-Cervantes, Andrea; Alvarez-Tostado, Javier; de los Monteros, Antonio Espinosa; Shore, Gregg; Vickers, Selwyn M

    2008-03-01

    J J-pouch (1), and sigmoid colectomy (1). Eighty-seven per cent had negative margins at the time of operation. Twelve patients received postoperative chemotherapy (80%). According to the clinical classification of primary non-Hodgkin lymphoma (NHL) of the gastrointestinal tract (Lugano, 1993) all patients corresponded to stage IE. Mean hospital stay was 6.4 days (range 3-26). There was no surgical mortality and the morbidity rate was 20 per cent (3 patients). One patient had a systemic recurrence (7%) approximately 4 months after surgical resection. Mean follow-up was 31 months (median 2-73). Surgical resection of localized, primary colonic lymphoma provides excellent local disease control and should be considered a primary treatment option. The role of chemotherapy remains controversial depending on the grade, stage, and extension of residual disease.

  16. Metastatic Colonization

    PubMed Central

    Massagué, Joan; Obenauf, Anna C.

    2016-01-01

    Metastasis is the main cause of death from cancer. To colonize distant organs, circulating cancer cells must overcome many obstacles through mechanisms that we are starting to understand. Infiltrating distant tissue, evading immune defences, adapting to supportive niches, surviving as latent tumour-initiating seeds, and eventually breaking out to replace the host tissue, are key steps for metastatic colonization. These obstacles make metastasis a highly inefficient process, but once metastases are established current treatments frequently fail to provide durable responses. A better understanding of the mechanistic determinants of metastatic colonization is needed to better prevent and treat metastatic cancer. PMID:26791720

  17. Comparison of the InPouch TV culture system and Diamond's modified medium for detection of Trichomonas vaginalis.

    PubMed Central

    Levi, M H; Torres, J; Piña, C; Klein, R S

    1997-01-01

    This study compared the use of Diamond's modified medium to InPouch for the culture of Trichomonas vaginalis from pooled vaginal secretions. The sensitivity for InPouch was 82.4% (61/74) versus 87.8% (65/74) for Diamond's modified medium. There were no significant differences in the sensitivity and negative predictive value of InPouch compared to Diamond's modified medium. PMID:9399542

  18. Colon Polyps

    MedlinePlus

    ... polyps important? Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2012. Elmunzer BJ. Endoscopic resection of sessile colon polyps. Gastroenterology. 2013;144:30. Baron TH, et al. Recommended intervals between screening and surveillance colonoscopies. Mayo Clinic Proceedings. ...

  19. Design of small-size pouch motors for rat gait rehabilitation device.

    PubMed

    Shih-Yin Chang; Takashima, Kenta; Nishikawa, Satoshi; Niiyama, Ryuma; Someya, Takao; Onodera, Hiroshi; Kuniyoshi, Yasuo

    2015-08-01

    Recent studies have demonstrated that active gait training can recover voluntary locomotive ability of paralyzed rats. Rehabilitation devices used for studying spinal cord injury to date are usually fixed on a treadmill, but they have been used only slightly for active training. To process active rehabilitation, a wearable, lightweight device with adequate output is needed. Pouch motors, soft pneumatic actuators, are extremely light and have other benefits such as low cost, easy fabrication, and highly customizable design. They can be used to develop active gait rehabilitation devices. However, performance details of different motor designs have not been examined. As described herein, to build a wearable gait assistive device for rat study, we specifically examine how to design small pouch motors with a good contraction ratio and force output. Results show that pouch performance decreases dramatically with size, but better output is obtainable by separation into small 0.8 length-to-width ratio rooms. We used this knowledge to produce an assistive robot suit for gait rehabilitation and to test it with paralyzed rats. Results show that these small pouches can produce sufficient power to control hip joint movements during gait training. They can reveal the potential for new pouch motor applications for spinal cord injury studies.

  20. Hog barn dust extract increases macromolecular efflux from the hamster cheek pouch.

    PubMed

    Rubinstein, Israel; Von Essen, Susanna G

    2006-07-01

    The purpose of this study was to determine whether short-term exposure to an aqueous extract of hog barn dust increases macromolecular efflux from the intact hamster cheek pouch and, if so, to begin to determine the mechanism(s) underlying this response. By using intravital microscopy, we found that suffusion of hog barn dust extract onto the intact hamster cheek pouch for 60 min elicited a significant, concentration-dependent leaky site formation and increase in clearance of FITC-labeled dextran (molecular mass, 70 kDa). This response was significantly attenuated by suffusion of catalase (60 U/ml), but not by heat-inactivated catalase, and by pretreatment with dexamethasone (10 mg/kg iv) (P < 0.05). Catalase had no significant effects on adenosine-induced increase in macromolecular efflux from the cheek pouch. Suffusion of hog barn dust extract had no significant effects on arteriolar diameter in the cheek pouch. Taken together, these data indicate that hog barn dust extract increases macromolecular efflux from the in situ hamster cheek pouch, in part, through local elaboration of reactive oxygen species that are inactivated by catalase. This response is specific and attenuated by corticosteroids. We suggest that plasma exudation plays an important role in the genesis of upper airway dysfunction evoked by short-term exposure to hog barn dust.

  1. Retort pouch processing of Chettinad style goat meat curry - a heritage meat product.

    PubMed

    Rajkumar, V; Dushyanthan, K; Das, Arun K

    2010-08-01

    Chettinad style goat meat curry, a heritage meat product, was thermal processed in retort pouches having 4 layer configurations. Physical properties of retort pouches indicated that they are suitable for processing. Pouches filled with 150 g of goat meat and 100 g of curry medium were retorted to a F O value of 12.1 min. Retort cooked products were tested for sterility and quality characteristics. Retorting decreased the product pH, thiobarbituric acid reactive substances and shear force values. Retort processed products had significantly lower L*, a*, b* and chroma values. Product was superior in all sensory attributes. It is concluded that Chettinad style goat meat product retorted to a F O value of 12.1 min, had acceptable sensory quality characteristics.

  2. Energy and process substitution in the frozen-food industry: geothermal energy and the retortable pouch

    SciTech Connect

    Stern, M.W.; Hanemann, W.M.; Eckhouse, K.

    1981-12-01

    An assessment is made of the possibilities of using geothermal energy and an aseptic retortable pouch in the food processing industry. The focus of the study is on the production of frozen broccoli in the Imperial Valley, California. Background information on the current status of the frozen food industry, the nature of geothermal energy as a potential substitute for conventional fossil fuels, and the engineering details of the retortable pouch process are covered. The analytical methodology by which the energy and process substitution were evaluated is described. A four-way comparison of the economics of the frozen product versus the pouched product and conventional fossil fuels versus geothermal energy was performed. A sensitivity analysis for the energy substitution was made and results are given. Results are summarized. (MCW)

  3. Morphological characteristics of the temporomandibular joint in the pouch young of the Tasmanian devil.

    PubMed

    Hayashi, K; Sugisaki, M; Kino, K; Ishikawa, T; Kawashima, S; Amemiya, T

    2015-04-01

    We recently reported the absence of the articular disc, which is a constant structure in mammals, in the temporomandibular joint of the adult Tasmanian devil. However, whether the articular disc disappears with growth of the animal was unknown. The aim of this study was to determine whether a pouch young of the Tasmanian devil has the articular disc. The temporomandibular joint of a fresh carcass of the pouch young, whose crown-rump length was 43 mm, was examined microscopically and by microcomputed tomography. The absence of the articular disc in the pouch young temporomandibular joint was histologically confirmed. It is suggested that the articular disc of the Tasmanian devil is naturally absent.

  4. Development and evaluation of a reflective solar disinfection pouch for treatment of drinking water.

    PubMed

    Walker, D Carey; Len, Soo-Voon; Sheehan, Brita

    2004-04-01

    A second-generation solar disinfection (SODIS) system (pouch) was constructed from food-grade, commercially available packaging materials selected to fully transmit and amplify the antimicrobial properties of sunlight. Depending upon the season, water source, and challenge organism, culturable bacteria were reduced between 3.5 and 5.5 log cycles. The system was also capable of reducing the background presumptive coliform population in nonsterile river water below the level of detection. Similar experiments conducted with a model virus, the F-specific RNA bacteriophage MS2, indicated that the pouch was slightly less efficient, reducing viable plaques by 3.5 log units in comparison to a 5.0 log reduction of enterotoxigenic Escherichia coli O18:H11 within the same time period. These results suggest that water of poor microbiological quality can be improved by using a freely available resource (sunlight) and a specifically designed plastic pouch constructed of food-grade packaging materials.

  5. Computed tomography-guided endoscopic needle knife therapy for ileal pouch sinus.

    PubMed

    Nyabanga, Custon T; Veniero, Joseph; Shen, Bo

    2016-11-01

    Ileal pouch-anal anastomosis surgery can be complicated by anastomotic leaks, leading to the formation of abscess and chronic sinus that have been routinely managed by a surgical approach. We developed the endoscopic needle knife sinusotomy (NKSi) technique, which has become a valid alternative. The basic principle of endoscopic NKSi is dissection and drainage of the sinus through its orifice internally into the lumen of pouch body. The success of NKSi requires an access to the sinus from the pouch side. One of the most challenging situations for NKSi is a closed orifice of the sinus, which leaves an isolated chronic abscess cavity. Here we report a case of complicated presacral sinus with a closed orifice that was not amenable to NKSi, necessitating a CT-guided guide wire placement and subsequent NKSi.

  6. The Quechua Manta Pouch: A Caretaking Practice for Buffering the Peruvian Infant against the Multiple Stressors of High Altitude.

    ERIC Educational Resources Information Center

    Tronick, E. Z.; And Others

    1994-01-01

    Describes the caretaking practices employed by the Peruvian Quechua mountain people, who swaddle infants in cloths and blankets (known as a manta pouch) to protect them from the harsh and frigid environment. The practices of 14 mother-infants pairs are examined in detail, and the benefits and drawbacks of the manta pouch are examined. (MDM)

  7. Giant African Pouched Rats as Detectors of Tuberculosis in Human Sputum: Comparison of Two Techniques for Sputum Presentation

    ERIC Educational Resources Information Center

    Wray, Alisha M.; Mahoney, Amanda; Weetjens, Bart J.; Cox, Christophe; Jubitana, Maureen; Kazwala, Rudovic; Mfinanga, Godfrey S.; Durgin, Amy; Poling, Alan

    2013-01-01

    Previous studies have shown that pouched rats can detect the presence of "Mycobacterium tuberculosis," which causes tuberculosis, in human sputum samples obtained from clinical facilities. Although pouched rats evaluate sputum samples quickly, preparing the samples is relatively slow. The present study evaluated whether the rats can detect…

  8. Endoscopic closure instead of surgery to close an ileal pouch fistula with the over-the-scope clip system

    PubMed Central

    Wei, Yao; Gong, Jian-Feng; Zhu, Wei-Ming

    2017-01-01

    An ileal pouch fistula is an uncommon complication after an ileal pouch anal anastomosis. Most patients who suffer from an ileal pouch fistula will need surgical intervention. However, the surgery can be invasive and has a high risk compared to endoscopic treatment. The over-the-scope clip (OTSC) system was initially developed for hemostasis and leakage closure in the gastrointestinal tract during flexible endoscopy. There have been many successes in using this approach to apply perforations to the upper gastrointestinal tract. However, this approach has not been used for ileal pouch fistulas until currently. In this report, we describe one patient who suffered a leak from the tip of the “J” pouch and was successfully treated with endoscopic closure via the OTSC system. A 26-year-old male patient had an intestinal fistula at the tip of the “J” pouch after an ileal pouch anal anastomosis procedure. He received endoscopic treatment via OTSC under intravenous anesthesia, and the leak was closed successfully. Endoscopic closure of a pouch fistula could be a simpler alternative to surgery and could help avoid surgery-related complications. PMID:28250903

  9. The first description of a congenital right ventricular cardiac aneurysm in a pigeon (Columba livia domestica, Cluj blue tumbler pigeon).

    PubMed

    Gal, A F; Tăbăran, F; Taulescu, M; Cătoi, C

    2012-12-01

    Congenital cardiac aneurysms and diverticula are rare cardiac outpouchings first described in humans. Our paper describes a congenital cardiac aneurysm in the wall of the right ventricle in a pigeon. A number of pigeons (n = 23), Cluj blue tumblers (Aves: Columbiformes: Columbidae: Columba livia domestica), were found dead (accidental poisoning) in October 5, 2011 in Cluj-Napoca, Central Romania. One individual (a 7-mo-old male) presented with a thin-walled pouch in the wall of the right cardiac ventricle. A complete necropsy examination was performed, and samples of the heart (ca. 0.5 cm) with evident macroscopic lesions were fixed in 10% neutral buffered formalin. During the necropsy examination, a well-demarcated outpouching was noted in the wall of the right cardiac ventricle. The aneurysm had a broad communication with the corresponding ventricular chamber. Histologically, the wall of the right ventricular pouch consisted of mature fibrous connective tissue with collagen fibers and fibroblasts. No viable cardiomyocytes were found in the wall of the aneurysm. No infarction, inflammation, or granulation tissue was identified in the aneurysm. This is the first reliable record of a congenital cardiac aneurysm in a pigeon and also the first record of this cardiac anomaly in birds. Herein we describe gross and histopathologic changes of a congenital cardiac aneurysm in a pigeon.

  10. Space colonization.

    PubMed

    2002-12-01

    NASA interest in colonization encompasses space tourism; space exploration; space bases in orbit, at L1, on the Moon, or on Mars; in-situ resource utilization; and planetary terraforming. Activities progressed during 2002 in areas such as Mars colonies, hoppers, and biomass; space elevators and construction; and in-situ consumables.

  11. Congenital defects of sheep.

    PubMed

    Dennis, S M

    1993-03-01

    With increasing incrimination of viruses, plants, and drugs as causes of ovine congenital defects, concerted efforts are required to identify environmental teratogens. Expanding knowledge of congenital defects requires studying as many defective lambs as possible; recording and documenting; detailed diagnostic examinations; genetic analyses and chromosomal examinations, whenever possible; and field investigations. Adopting standardized classification, terminology, and diagnostic procedures should improve descriptions, diagnoses, and interdisciplinary exchange of information. That, in turn, should improve our knowledge of and diagnosis of congenital defects of sheep in the future. Finally, veterinary clinicians and diagnosticians are encouraged to take an interest in congenital defects and teratology.

  12. Genetics Home Reference: congenital hypothyroidism

    MedlinePlus

    ... Understand Genetics Home Health Conditions congenital hypothyroidism congenital hypothyroidism Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Congenital hypothyroidism is a partial or complete loss of function ...

  13. Using Trained Pouched Rats (Cricetomys Gambianus) to Detect Land Mines: Another Victory for Operant Conditioning

    ERIC Educational Resources Information Center

    Poling, Alan; Weetjens, Bart; Cox, Christophe; Beyene, Negussie W.; Bach, Harvard; Sully, Andrew

    2011-01-01

    We used giant African pouched rats ("Cricetomys gambianus") as land mine-detection animals in Mozambique because they have an excellent sense of smell, weigh too little to activate mines, and are native to sub-Saharan Africa, and therefore are resistant to local parasites and diseases. In 2009 the rats searched 93,400 m[superscript 2] of…

  14. Using Trained Pouched Rats to Detect Land Mines: Another Victory for Operant Conditioning

    ERIC Educational Resources Information Center

    Poling, Alan; Weetjens, Bart; Cox, Christophe; Beyene, Negussie W.; Bach, Harvard; Sully, Andrew

    2011-01-01

    We used giant African pouched rats ("Cricetomys gambianus") as land mine-detection animals in Mozambique because they have an excellent sense of smell, weigh too little to activate mines, and are native to sub-Saharan Africa, and therefore are resistant to local parasites and diseases. In 2009 the rats searched 93,400 m[superscript 2] of…

  15. Mycotic encephalitis, sinus osteomyelitis, and guttural pouch mycosis in a 3-year-old Arabian colt.

    PubMed

    Hunter, Barbara; Nation, Patrick N

    2011-12-01

    Mycotic encephalitis caused severe ataxia and other neurologic deficits in a horse. The finding of a single, large focus of cerebral malacia, with histopathologic evidence of fungal elements, suggested infection was a result of direct transfer from the frontal sinuses, rather than hematogenous spread from the guttural pouch.

  16. Multifocal Congenital Hemangiopericytoma.

    PubMed

    Robl, Renata; Carvalho, Vânia Oliveira; Abagge, Kerstin Taniguchi; Uber, Marjorie; Lichtvan, Leniza Costa Lima; Werner, Betina; Mehrdad Nadji, Mehrdad

    2017-01-01

    Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor with less aggressive behavior and a more favorable prognosis than similar tumors in adults. Multifocal presentation is even less common than isolated HPC and hence its clinical and histologic recognition may be challenging. A newborn infant with multifocal congenital HPC causing severe deformity but with a favorable outcome after chemotherapy and surgical removal is reported.

  17. Congenital heat disease

    SciTech Connect

    Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

    1990-01-01

    The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations.

  18. Pouch young removal and return to oestrus in wild southern hairy-nosed wombats (Lasiorhinus latifrons).

    PubMed

    Finlayson, G R; Taggart, D A; Shimmin, G A; White, C R; Dibben, R; Steele, V; Paris, M C J; Temple-Smith, P D

    2007-07-01

    The southern hairy-nosed wombat (Lasiorhinus latifrons) is a seasonal breeding, burrowing marsupial adapted to a semi-arid environment and the closest relative of the endangered northern hairy-nosed wombat (Lasiorhinus krefftii). Females typically give birth to one to two young every 3 years with young weaned at 360-400 days. This study examined the occurrence of polyoestry in a wild population of southern hairy-nosed wombats, and in particular the ability of this species to produce additional offspring in the same breeding season if a young was prematurely lost or removed. Pouch young were removed during the breeding seasons of 1996/1997 and 2003. No females from the 1996 (n=3)/1997 (n=3) group gave birth to a second pouch young in the same breeding season. However, two females in this group gave birth to young the following season. In contrast, all the 2003 group of females (n=6) produced a second offspring in the same breeding season after removal of pouch young (RPY). The reason for the different response to RPY between the two groups is unknown. These studies confirm that southern hairy-nosed wombats are polyoestrus in the wild and are capable of producing more than one offspring in a single breeding season. Females that failed to return to oestrus in the breeding season that pouch young were removed bred again in the following season. Rapid replacement of southern hairy-nosed wombat pouch young in the same breeding season as RPY suggests that this procedure, linked to either hand-rearing or interspecific cross-fostering, should be seriously considered as a priority conservation action to increase the population size of the critically endangered sister species, the northern hairy-nosed wombat.

  19. Measuring neoplastic transformation in the hamster cheek pouch using Fourier domain low-coherence interferometry

    NASA Astrophysics Data System (ADS)

    Graf, Robert N.; Chen, Xiaoxin; Brown, William; Wax, Adam

    2008-02-01

    Fourier Domain Low Coherence Interferometry (fLCI) is a promising technique which combines the depth resolution of low coherence interferometry with the sensitivity of light scattering spectroscopy for probing the health of epithelial tissue layers. Our new fLCI system configuration utilizes a white light Xe arc lamp source and a 4-f interferometer which re-images light scattered from the sample onto the detection plane. The system employs an imaging spectrometer at the detection plane to acquire depth resolved profiles from 252 adjacent spatial points without the need for any scanning. The limited spatial coherence of the light source requires the resolution of adjacent spatial points for the generation of depth information. Depth-resolved spectral information is recovered by performing a short-time Fourier transform on the detected spectra, similar to spectroscopic optical coherence tomography. Wavelength dependent variations in scattering intensity are analyzed as a function of depth to obtain information about the neoplastic transformation of the probed cells. Previous studies have demonstrated fLCI as an excellent technique for probing the scatterer morphology of simple phantoms and of in vitro cancer cell monolayers. We now seek to assess the ability of the new fLCI system to measure the health of subsurface tissue layers using the hamster cheek pouch model. Seven hamsters will have one cheek pouch treated with the known carcinogen DMBA. At the conclusion of the 24 week treatment period the animals will be anesthetized and the cheek pouches will be extracted. We will use the fLCI optical system to measure the neoplastic transformation of the in situ subsurface tissue layers in both the normal and DMBA-treated cheek pouches. Traditional histological analysis will be used to verify the fLCI measurements. We expect our results to establish the feasibility of fLCI to distinguish between healthy and dysplastic epithelial tissues in the hamster cheek pouch.

  20. Dynamics of thymus organogenesis and colonization in early human development.

    PubMed

    Farley, Alison M; Morris, Lucy X; Vroegindeweij, Eric; Depreter, Marianne L G; Vaidya, Harsh; Stenhouse, Frances H; Tomlinson, Simon R; Anderson, Richard A; Cupedo, Tom; Cornelissen, Jan J; Blackburn, C Clare

    2013-05-01

    The thymus is the central site of T-cell development and thus is of fundamental importance to the immune system, but little information exists regarding molecular regulation of thymus development in humans. Here we demonstrate, via spatial and temporal expression analyses, that the genetic mechanisms known to regulate mouse thymus organogenesis are conserved in humans. In addition, we provide molecular evidence that the human thymic epithelium derives solely from the third pharyngeal pouch, as in the mouse, in contrast to previous suggestions. Finally, we define the timing of onset of hematopoietic cell colonization and epithelial cell differentiation in the human thymic primordium, showing, unexpectedly, that the first colonizing hematopoietic cells are CD45(+)CD34(int/-). Collectively, our data provide essential information for translation of principles established in the mouse to the human, and are of particular relevance to development of improved strategies for enhancing immune reconstitution in patients.

  1. Giant congenital melanocytic nevus*

    PubMed Central

    Viana, Ana Carolina Leite; Gontijo, Bernardo; Bittencourt, Flávia Vasques

    2013-01-01

    Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present at birth that will reach a diameter ≥ 20 cm in adulthood. Its incidence is estimated in <1:20,000 newborns. Despite its rarity, this lesion is important because it may associate with severe complications such as malignant melanoma, affect the central nervous system (neurocutaneous melanosis), and have major psychosocial impact on the patient and his family due to its unsightly appearance. Giant congenital melanocytic nevus generally presents as a brown lesion, with flat or mammilated surface, well-demarcated borders and hypertrichosis. Congenital melanocytic nevus is primarily a clinical diagnosis. However, congenital nevi are histologically distinguished from acquired nevi mainly by their larger size, the spread of the nevus cells to the deep layers of the skin and by their more varied architecture and morphology. Although giant congenital melanocytic nevus is recognized as a risk factor for the development of melanoma, the precise magnitude of this risk is still controversial. The estimated lifetime risk of developing melanoma varies from 5 to 10%. On account of these uncertainties and the size of the lesions, the management of giant congenital melanocytic nevus needs individualization. Treatment may include surgical and non-surgical procedures, psychological intervention and/or clinical follow-up, with special attention to changes in color, texture or on the surface of the lesion. The only absolute indication for surgery in giant congenital melanocytic nevus is the development of a malignant neoplasm on the lesion. PMID:24474093

  2. Genetics of congenital hypothyroidism

    PubMed Central

    Park, S; Chatterjee, V

    2005-01-01

    Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically heterogeneous disorder form two main groups: those causing thyroid gland dysgenesis and those causing dyshormonogenesis. Genes associated with thyroid gland dysgenesis include the TSH receptor in non-syndromic congenital hypothyroidism, and Gsα and the thyroid transcription factors (TTF-1, TTF-2, and Pax-8), associated with different complex syndromes that include congenital hypothyroidism. Among those causing dyshormonogenesis, the thyroid peroxidase and thyroglobulin genes were initially described, and more recently PDS (Pendred syndrome), NIS (sodium iodide symporter), and THOX2 (thyroid oxidase 2) gene defects. There is also early evidence for a third group of congenital hypothyroid conditions associated with iodothyronine transporter defects associated with severe neurological sequelae. This review focuses on the genetic aspects of primary congenital hypothyroidism. PMID:15863666

  3. Giant congenital melanocytic nevus.

    PubMed

    Viana, Ana Carolina Leite; Gontijo, Bernardo; Bittencourt, Flávia Vasques

    2013-01-01

    Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present at birth that will reach a diameter ≥ 20 cm in adulthood. Its incidence is estimated in <1:20,000 newborns. Despite its rarity, this lesion is important because it may associate with severe complications such as malignant melanoma, affect the central nervous system (neurocutaneous melanosis), and have major psychosocial impact on the patient and his family due to its unsightly appearance. Giant congenital melanocytic nevus generally presents as a brown lesion, with flat or mammilated surface, well-demarcated borders and hypertrichosis. Congenital melanocytic nevus is primarily a clinical diagnosis. However, congenital nevi are histologically distinguished from acquired nevi mainly by their larger size, the spread of the nevus cells to the deep layers of the skin and by their more varied architecture and morphology. Although giant congenital melanocytic nevus is recognized as a risk factor for the development of melanoma, the precise magnitude of this risk is still controversial. The estimated lifetime risk of developing melanoma varies from 5 to 10%. On account of these uncertainties and the size of the lesions, the management of giant congenital melanocytic nevus needs individualization. Treatment may include surgical and non-surgical procedures, psychological intervention and/or clinical follow-up, with special attention to changes in color, texture or on the surface of the lesion. The only absolute indication for surgery in giant congenital melanocytic nevus is the development of a malignant neoplasm on the lesion.

  4. Giant congenital nevus

    MedlinePlus

    ... A congenital pigmented or melanocytic nevus is a dark-colored, often hairy, patch of skin. It is ... rare. Symptoms A nevus will appear as a dark-colored patch with any of the following: Brown ...

  5. Congenital heart disease

    MedlinePlus

    ... defect - heartbeat Patent ductus arteriosis (PDA) - series References Fraser CD, Carberry KE. Congenital heart disease. In: Townsend ... ASD) Coarctation of the aorta Ellis-van Creveld syndrome Fetal alcohol syndrome Hypoplastic left heart syndrome Marfan ...

  6. Congenital complete heart block.

    PubMed Central

    Agarwala, B.; Sheikh, Z.; Cibils, L. A.

    1996-01-01

    Congenital complete heart block in utero has become diagnosed more frequently with the clinical use of fetal echocardiography. The fetus with complete heart block may remain asymptomatic or may develop congestive heart failure. Congenital complete heart block is more frequently seen in infants of mothers with systemic lupus erythematosus, both clinically manifested and subclinical systemic lupus erythematosus with positive antibodies (SS-A and SS-B antibodies). At birth, the neonate with complete heart block may remain asymptomatic and may not require a pacemaker to increase the heart rate. The indications for a pacemaker in neonates with complete heart block have been discussed. Both in-utero and neonatal management of congenital complete heart block are discussed to manage congestive heart failure in a fetus. Four patients with congenital complete heart block are presented covering a broad spectrum of clinical presentation, diagnosis, and management both in the fetal and neonatal period. Images Figure 1 PMID:8961692

  7. Congenital nephrotic syndrome

    MedlinePlus

    ... may be high. There may be signs of malnutrition. A urinalysis reveals fat and large amounts of ... The disorder often leads to infection, malnutrition, and kidney failure. ... die within the first year. Congenital nephrotic syndrome ...

  8. Congenital Heart Information Network

    MedlinePlus

    ... Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright ©1996 - 2016 C.H.I.N. All rights reserved TX4-390-685 Original site design and HTML by Panoptic Communications

  9. Crohn's-like complications in patients with ulcerative colitis after total proctocolectomy and ileal pouch-anal anastomosis.

    PubMed

    Goldstein, N S; Sanford, W W; Bodzin, J H

    1997-11-01

    Total proctocolectomy with ileal pouch-anal anastomosis (IPAA) has become an established surgical procedure for ulcerative colitis. Occasional patients who have undergone IPAA develop persistent or recurrent episodes of pouchitis (chronic pouchitis), from which a subset also develop gastrointestinal and systemic complications that are identical to those seen in Crohn's disease. These complications include enteric stenoses or fistulas in the pouch or pouch inlet segment, perianal fistulas or abscesses, pouch fistulas, arthritis, iridocyclitis, and pyoderma gangrenosum. The development of Crohn's-like gastrointestinal complications in a patient with chronic pouchitis frequently engenders concern that the pathologist misinterpreted the proctocolectomy specimen as ulcerative colitis instead of Crohn's disease. We describe eight patients who developed chronic pouchitis and Crohn's-like complications after IPAA and total proctocolectomy. In each case, concern was voiced about misinterpretation of the proctocolectomy specimen as ulcerative colitis instead of Crohn's disease after the development of the Crohn's-like complications. Preoperatively, all eight patients had characteristic clinical, radiographic, and pathologic features of ulcerative colitis. Review of the pathology specimens indicated that all eight had ulcerative colitis. Crohn's-like complications are most likely related to chronic pouchitis, which probably is a form of recrudescent ulcerative colitis within the novel environment of the pouch. A diagnosis of Crohn's disease after IPAA surgery should only be made when reexamination of the original proctocolectomy specimen shows typical pathologic features of Crohn's disease, Crohn's disease arises in parts of the gastrointestinal tract distant from the pouch, pouch biopsies contain active enteritis with granulomas, or excised pouches show the characteristic features of Crohn's disease, including granulomas. There were no histologic differences in the total

  10. Colon cancer - resources

    MedlinePlus

    Resources - colon cancer ... The following organizations are good resources for information on colon cancer : American Cancer Society -- www.cancer.org/cancer/colonandrectumcancer/index Colon Cancer Alliance -- www.ccalliance.org National ...

  11. Cystic Endometrioma with Coexisting Fibroma Originating in a Supernumerary Ovary in the Rectovaginal Pouch

    PubMed Central

    Sakaguchi, Asumi; Kodama, Hiroko; Ogura, Kanako; Miwa, Ayako; Sugimori, Yayoi; Matuoka, Shozo; Matsumoto, Toshiharu

    2017-01-01

    A supernumerary ovary is an exceedingly rare disorder, in which the structure containing ovarian tissue is located at some distance from the normally placed ovary. 16 cases of endometriosis or tumors originating in a supernumerary ovary have been published in the English literature, but no case of coexisting endometriosis and a tumor has been published. We present the case of a 40-year-old female with cystic endometrioma with coexisting fibroma originating in a supernumerary ovary in the rectovaginal pouch. The present case is the first to be reported with coexisting endometriosis and a tumor originating in a supernumerary ovary. Our experience with this case and the results of our previous studies of rectovaginal endometriosis indicated that the possibility of originating in a supernumerary ovary shall be examined in cases of cystic endometrioma in the rectovaginal pouch. PMID:28210515

  12. The relationship between hatching rate and number of embryos of the brood pouch in Littorina saxatilis

    NASA Astrophysics Data System (ADS)

    Conde-Padín, P.; Carballo, M.; Caballero, A.; Rolán-Alvarez, E.

    2008-10-01

    Littorina saxatilis is an ovoviviparous organism in which shelled embryos can be directly observed in nearly all mature females captured in the wild. This characteristic has been used a number of times as an indirect estimate for fecundity of natural populations. However, there is no experimental corroboration that the number of embryos within a female brood pouch is actually related to the rate of hatching per unit of time, a more realistic estimate of female fecundity. In order to make this corroboration we estimated the correlation between the number of embryos in the brood pouch and the hatching rate of isolated females grown in the laboratory. We also compared the hatching rates of females from two sympatric ecotypes (RB and SU) of this species, which differ significantly in the number of embryos. We found a high agreement between hatching rate and number of embryos, concluding that the latter is a good proxy for fecundity.

  13. Determination of thermal process schedule for emulsion type buffalo meat block in retort pouch.

    PubMed

    Devadason, I Prince; Anjaneyulu, A S R; Mendirtta, S K; Murthy, T R K

    2014-11-01

    The process temperature for buffalo met blocks processed in retort pouches calculated based on the heat resistance of Clostridium sporogenes PA 3679 in Phosphate buffer saline (PBS- Ph 7.0) as reference medium and in buffalo meat block (pH 6.28) was in the range of 110-121°C. The D values and Z values calculated for C.sporogenes PA 3679 confirmed that the suspension was best suited for conducting thermal resistance studies. The experiment for indirect confirmation of microbial safety of the products involving inoculating the buffalo meat emulsion filled in pouches with C.sporogenes PA 3679 and processed at Fo 12.13 min showed no growth of microorganisms.

  14. Nd:YAG photovaporization of residual equine guttural-pouch mycotic lesions after internal carotid occlusion

    NASA Astrophysics Data System (ADS)

    Tate, Lloyd P.; Tudor, R. A.; Little, Edwina D. E.

    1998-07-01

    Hospital records reviewed over a 12-year period determined that 6 horses had been presented for guttural pouch mycosis. All had a history of epistaxis and several had accompanying neurologic signs, including dysphagia. Initially, conformation of the disease was obtained by radiographic and endoscopic examinations. Surgical treatment was directed at controlling and preventing additional hemorrhage by occluding the arterial source of the hemorrhage. Direct treatment of the mycotic plaque present within the guttural pouch was conducted using transendoscopic technique to direct irradiation from the Nd:YAG laser. The protocol described for the laser application was successful in resolving the lesions and was less complicated and stressful than previously reported topically applied chemical protocols.

  15. Guttural pouch mycosis in horses: a retrospective study of 28 cases.

    PubMed

    Dobesova, O; Schwarz, B; Velde, K; Jahn, P; Zert, Z; Bezdekova, B

    2012-12-01

    The medical records of 28 horses with guttural pouch mycosis were reviewed. The most commonly observed clinical signs were nasal discharge, epistaxis, dysphagia and/or cough. All 28 horses had the disease unilaterally, however, in five of them, it had spread into the contralateral pouch via the mesial septum. Three horses were treated medically, 11 horses underwent surgery and seven horses were treated both medically and surgically. Fifty percent of horses (14/28) were euthanased or died, fifty percent of horses (14/28) survived. There was no significant correlation between treatment method (medical, surgical, combination) and survival rate. The most common reason for euthanasia was dysphagia due to pharyngeal dysfunction. There was a highly significant correlation between the presence of dysphagia and non-survival (p=0.008).

  16. Auto-inflammatory diseases in ileal pouch patients with NOD2/CARD15 mutations

    PubMed Central

    Seril, Darren N.; Yao, Qingping; Shen, Bo

    2016-01-01

    Pouchitis is common in ulcerative colitis patients undergoing total proctocolectomy with ileal pouch-anal anastomosis, and chronic antibiotic-refractory pouchitis occurs in a subgroup of the patients. Auto-inflammatory diseases are characterized by systemic inflammation, manifesting as periodic fever, rash, arthritis, and serositis. We describe two cases with ulcerative colitis and an ileal pouch, who presented with extra-intestinal manifestations and genetic features atypical for inflammatory bowel disease alone. Case 1 had a spectrum of clinical manifestations including refractory pouchitis, intermittent fevers, polyarthralgia, and pericarditis. Case 2 presented with oral ulcers, migratory oligoarthritis, and periodic papular rash. Genetic testing in both cases revealed mutations of the NOD2/CARD15 gene, including the IVS8+158 mutation commonly detected among patients with NOD2-associated auto-inflammatory disease. Both of the patients demonstrated clinical improvement of these diverse systemic complaints following treatment with immunosuppressive and anti-inflammatory therapies. PMID:25313006

  17. Auto-inflammatory diseases in ileal pouch patients with NOD2/CARD15 mutations.

    PubMed

    Seril, Darren N; Yao, Qingping; Shen, Bo

    2016-02-01

    Pouchitis is common in ulcerative colitis patients undergoing total proctocolectomy with ileal pouch-anal anastomosis, and chronic antibiotic-refractory pouchitis occurs in a subgroup of the patients. Auto-inflammatory diseases are characterized by systemic inflammation, manifesting as periodic fever, rash, arthritis, and serositis. We describe two cases with ulcerative colitis and an ileal pouch, who presented with extra-intestinal manifestations and genetic features atypical for inflammatory bowel disease alone. Case 1 had a spectrum of clinical manifestations including refractory pouchitis, intermittent fevers, polyarthralgia, and pericarditis. Case 2 presented with oral ulcers, migratory oligoarthritis, and periodic papular rash. Genetic testing in both cases revealed mutations of the NOD2/CARD15 gene, including the IVS8(+158) mutation commonly detected among patients with NOD2-associated auto-inflammatory disease. Both of the patients demonstrated clinical improvement of these diverse systemic complaints following treatment with immunosuppressive and anti-inflammatory therapies.

  18. Mucus accumulation and necrosis of the ventral air pouch in a marabou stork (Leptoptilos crumeniferus) with productive rhinitis.

    PubMed

    Collarile, Tommaso; Di Girolamo, Nicola; Selleri, Paolo; Melidone, Raffaele

    2013-09-01

    A captive-born marabou stork (Leptoptilos crumeniferus) was presented for swelling of the ventral air pouch of 1 month's duration. The pouch appeared fluid filled, and its distal third wall was markedly inspissated. The thickened distal portion of the pouch wall was removed surgically. During anesthesia, mucous discharge from the nares was evident and the nasal mucosa was hyperemic. Aeromonas and Proteus species were isolated from a nasal culture. Postoperative therapy that consisted of nasal flushing, antimicrobial agents, and nonsteroidal anti-inflammatory drugs was effective in managing the disease. On histologic examination, diffuse hemorrhage, necrosis, and multifocal vasculitis with moderate-to-severe heterophilic inflammation were present within sections of the ventral pouch. To our knowledge this is the first report of a mucus-filled ventral air pouch with associated pathologic changes secondary to a productive infection of the upper respiratory tract in a marabou stork. The unique communication between nasal cavities and the ventral air pouch should be considered in future cases of respiratory infection in marabou storks.

  19. Natural honey: a new and potent anti-angiogenic agent in the air-pouch model of inflammation.

    PubMed

    Eteraf-Oskouei, T; Najafi, M; Gharehbagheri, A

    2014-10-01

    Despite reports indicating anti-inflammatory effects of honey, the anti-angiogenic effect of honey and its impact on inflammatory mediators in the air pouch model of inflammation have not yet been studied. The aims of present study were to investigate the effects of honey on angiogenesis, inflammatory cytokine vascular endothelial growth factor (VEGF) level as an important marker of angiogenesis and prostaglandin E2 (PGE2) in the rat air pouch model of inflammation. Male Wistar rats were anesthetized, and then 20 ml and 10 ml of sterile air were injected subcutaneously in the back on days 0 and 3, respectively. On day 6, inflammation was induced by injection of 1 ml of carrageenan 1% into pouches. After 72 h, the rats were sacrificed; pouch fluid was collected in order to determine PGE2 concentration and VEGF level. The Pouches were dissected out and weighed. Angiogenesis of granulomatous tissue was assayed using a hemoglobin kit. Honey was able to reduce granulation tissue weight and angiogenesis as well as showing potent inhibitory activities against PGE2 and VEGF in air pouch model of inflammation. The decrease in angiogenesis correlates with the inhibition of PGE2 and VEGF. Honey is potentially useful in the treatment of granulomatous inflammatory conditions. It seems that the anti-angiogenic activities of honey are mediated through modulation of PGE2 and VEGF production.

  20. Marsupial tammar wallaby delivers milk bioactives to altricial pouch young to support lung development.

    PubMed

    Modepalli, Vengamanaidu; Hinds, Lyn A; Sharp, Julie A; Lefevre, Christophe; Nicholas, Kevin R

    2016-11-01

    Our research is exploiting the marsupial as a model to understand the signals required for lung development. Marsupials have a unique reproductive strategy, the mother gives birth to altricial neonate with an immature lung and the changes in milk composition during lactation in marsupials appears to provide bioactives that can regulate diverse aspects of lung development, including branching morphogenesis, cell proliferation and cell differentiation. These effects are seen with milk collected between 25 and 100days postpartum. To better understand the temporal effects of milk composition on postnatal lung development we used a cross-fostering technique to restrict the tammar pouch young to milk composition not extending beyond day 25 for 45days of its early postnatal life. These particular time points were selected as our previous study showed that milk protein collected prior to ~day 25 had no developmental effect on mouse embryonic lungs in culture. The comparative analysis of the foster group and control young at day 45 postpartum demonstrated that foster pouch young had significantly reduced lung size. The lungs in fostered young were comprised of large intermediate tissue, had a reduced size of airway lumen and a higher percentage of parenchymal tissue. In addition, expression of marker genes for lung development (BMP4, WNT11, AQP-4, HOPX and SPB) were significantly reduced in lungs from fostered young. Further, to identify the potential bioactive expressed by mammary gland that may have developmental effect on pouch young lungs, we performed proteomics analysis on tammar milk through mass-spectrometry and listed the potential bioactives (PDGF, IGFBP5, IGFBPL1 and EGFL6) secreted in milk that may be involved in regulating pouch young lung development. The data suggest that postnatal lung development in the tammar young is most likely regulated by maternal signalling factors supplied through milk.

  1. Expansion of Lithium Ion Pouch Cell Batteries: Observations from Neutron Imaging

    DTIC Science & Technology

    2012-12-21

    low C-rates the measured battery thickness was a function of State of Charge (SOC) and independent of a small external clamping force. A 0.3...Lee et al. in [4] measured the dimensional changes in lithium cobalt oxide pouch cells during cycling using a specialized dilatometer setup. They...and rates on electrode expansion was investigated. At low C-rates the measured battery thickness was a function of State of Charge (SOC) and independent

  2. Teaching Giant African Pouched Rats to Find Landmines: Operant Conditioning With Real Consequences

    PubMed Central

    Poling, Alan; Weetjens, Bart J; Cox, Christophe; Beyene, Negussie; Bach, Håvard; Sully, Andrew

    2010-01-01

    Giant African pouched rats recently have been used as mine-detection animals in Mozambique. To provide an example of the wide range of problems to which operant conditioning procedures can be applied and to illustrate the common challenges often faced in applying those procedures, this manuscript briefly describes how the rats are trained and used operationally. To date, the rats have performed well and it appears they can play a valuable role in humanitarian demining. PMID:22532890

  3. Effects of chlorhexidine on the structure and permeability of hamster cheek pouch mucosa

    SciTech Connect

    Harvey, B.V.; Squier, C.A.; Hall, B.K.

    1984-10-01

    This study examined the effects of chlorhexidine (CHD) on the clinical appearance, morphology, and in vitro permeability of hamster cheek pouch mucosa. The cheek pouches were treated daily for 3 weeks with topical applications of saline, 0.2% CHD, or 2.0% CHD. Treatment with 2.0% CHD resulted in the formation of discrete white lesions in every animal in the group, whereas no changes were identified in any animal treated with 0.2% CHD or saline. Upon microscopic examination it was determined that treatment with 2.0% CHD resulted in a statistically significant increase in epithelial thickness, when compared to the other groups, and the lesions were found to consist of hyperplastic areas of epithelium with associated inflammatory cell accumulations. Daily treatments with 2.0% CHD, 0.2% CHD or saline had no effect on the very low permeability of cheek pouch mucosa to /sup 14/C-CHD. However, treatment with 2.0% CHD resulted in decreased permeability to /sup 3/H/sub 2/O when compared to the other groups. Treatment with 2.0% CHD also resulted in a thickened permeability barrier, as determined using a tracer, horseradish peroxidase. It is concluded that topical applications of 0.2% T CHD have no detectable effect on cheek-pouch mucosa while applications of 2.0% CHD result in hyperplasia and a decrease in mucosal permeability. Results suggest that CHD should be used with caution clinically and at a concentration of 0.2% or less.

  4. Detecting neoplastic development in the hamster cheek pouch using Fourier domain low coherence interferometry

    NASA Astrophysics Data System (ADS)

    Graf, Robert N.; Robles, Francisco; Chen, Xiaoxin; Wax, Adam

    2009-02-01

    Fourier Domain Low Coherence Interferometry (fLCI) is an optical technique that recovers depth-resolved spectroscopic information about scatterers. The current fLCI system utilizes a white light Xe arc lamp source, a 4-f interferometer, and an imaging spectrometer at the detection plane to acquire spectra from 256 adjacent spatial points. This configuration permits the acquisition of ultrahigh depth resolution Fourier domain OCT images without the need for any beam scanning. fLCI has traditionally obtained depth-resolved spectral information by performing a short-time Fourier transform (STFT) on the detected spectra, similar to the processing techniques of spectroscopic OCT. We now employ a dual Gaussian window processing method which simultaneously obtains high spectral and temporal resolution, thus avoiding the resolution trade-off normally associated with the STFT. Wavelength dependent variations in scattering intensity are analyzed as a function of depth to obtain structural information about the probed scatterers. We now verify fLCI's ability to distinguish between normal and dysplastic epithelial tissue using the hamster cheek pouch model. Thirty hamsters will have one cheek pouch treated with the known carcinogen DMBA. At the conclusion of the 24 week treatment period the animals will be anesthetized and the cheek pouches will be extracted. We will use the fLCI optical system to measure the neoplastic transformation of the in situ subsurface tissue layers in both the normal and DMBA-treated cheek pouches. Traditional histological analysis will be used to verify the fLCI measurements. Our results will further establish fLCI as an effective method for distinguishing between normal and dysplastic epithelial tissues.

  5. Modeling Lithium Ion Battery Safety: Venting of Pouch Cells; NREL (National Renewable Energy Laboratory)

    SciTech Connect

    Santhanagopalan, Shriram.; Yang, Chuanbo.; Pesaran, Ahmad

    2013-07-01

    This report documents the successful completion of the NREL July milestone entitled “Modeling Lithium-Ion Battery Safety - Complete Case-Studies on Pouch Cell Venting,” as part of the 2013 Vehicle Technologies Annual Operating Plan with the U.S. Department of Energy (DOE). This work aims to bridge the gap between materials modeling, usually carried out at the sub-continuum scale, and the

  6. Comparative rice seed toxicity tests using filter paper, growth pouch-tm, and seed tray methods

    USGS Publications Warehouse

    Wang, W.

    1993-01-01

    Paper substrate, especially circular filter paper placed inside a Petri dish, has long been used for the plant seed toxicity test (PSTT). Although this method is simple and inexpensive, recent evidence indicates that it gives results that are significantly different from those obtained using a method that does not involve paper, especially when testing metal cations. The study compared PSTT using three methods: filter paper, Growth Pouch-TM, and seed tray. The Growth Pouch-TM is a commercially available device. The seed tray is a newly designed plastic receptacle placed inside a Petri dish. The results of the Growth Pouch-TM method showed no toxic effects on rice for Ag up to 40 mg L-1 and Cd up to 20 mg L-1. Using the seed tray method, IC50 (50% inhibitory effect concentration) values were 0.55 and 1.4 mg L-1 for Ag and Cd, respectively. Although results of filter paper and seed tray methods were nearly identical for NaF, Cr(VI), and phenol, the toxicities of cations Ag and Cd were reduced by using the filter paper method; IC50 values were 22 and 18 mg L-1, respectively. The results clearly indicate that paper substrate is not advisable for PSTT.

  7. Sunitinib Improves Some Clinical Aspects and Reverts DMBA-Induced Hyperplasic Lesions in Hamster Buccal Pouch

    PubMed Central

    de Souza, Fernanda Lopes; Oliveira, Mariana; Nunes, Marianne Brochado; Serafim, Lucas Horstmann; Azambuja, Alan Arrieira; Braga, Luisa Maria G. de M.; Saur, Lisiani; de Souza, Maria Antonieta Lopes; Xavier, Léder Leal

    2014-01-01

    Oral squamous cell carcinoma (OSCC) is a public health problem. The hamster buccal pouch model is ideal for analyzing the development of OSCC. This research analysed the effects of sunitinib (tyrosine kinase inhibitor) in precancerous lesions induced by 7,12-dimethylbenz(a)anthracene (DMBA) in this model. Thirty-four male hamsters, divided into six groups: control—C (n = 7), acetone—A (n = 12), carbamide peroxide—CP (n = 5 ), acetone and CP—A+CP (n = 8), 1% DMBA in acetone and CP—DA+CP (n = 6), and 1% DMBA in acetone and CP and 4-week treatment with sunitinib—DA+CP+S (n = 7). The aspects evaluated were anatomopathological features (peribuccal area, paws, nose, and fur), histological sections of the hamster buccal pouches (qualitatively analyzed), epithelium thickness, and the rete ridge density (estimated). Sunitinib was unable to attenuate the decrease in weight gain induced by DMBA; no increase in volume was detected in the pouch and/or ulceration, observed in 43% of the animals in the DA+CP group. DA+CP groups presented a significant increase in rete ridge density compared to the control groups (P < 0.01) which was reverted by sunitinib in the DA+CP+S group. Sunitinib seems to have important benefits in early stage carcinogenesis and may be useful in chemoprevention. PMID:24693453

  8. Endoscopic treatment of leak at the tip of the “J” ileal pouch

    PubMed Central

    Kochhar, Gursimran Singh; Shen, Bo

    2017-01-01

    Background and study aims The tip of the “J” of the ileal pouch is the vulnerable location for leak after restorative proctocolectomy, which has normally been treated with surgery. We aimed to describe a novel endoscopic method to treat the same. Patients and methods A cohort of 12 consecutive patients with a leak at the tip of the “J” was identified in our prospectively maintained Pouch Registry. The endoscopic over-the-scope clipping (OTSC) system was used for the closure of the leak. Results Eight patients (66.6 %) achieved complete closure of the leak documented by endoscopy confirmed with guidewire and/or contrasted pouchogram, with 6 requiring a single endoscopic session and 2 undergoing a repeat session. Four patients (33.3 %) had a persistent leak and required surgical intervention, of whom 1 developed abscess in the pre-spine region 14 days after the endoscopic procedure and underwent pouch revision surgery. Conclusions OSTC appears to be safe and effective in treating the leak at the tip of the “J” in the majority of patients. PMID:28180150

  9. The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator

    SciTech Connect

    Kere, J.; de la Chapelle, A.; Holmberg, C. ); Sistonen, P. Finnish Red Cross Blood Transfusion Service, Helsinki )

    1993-11-15

    Congenital chloride diarrhea (CLD) is characterized by watery stools with high chloride content beginning prenatally and is inherited as an autosomal recessive trait. Perfusion studies have established a basic defect in ileal and colonic Cl[sup [minus

  10. Genetics of Congenital Cataract.

    PubMed

    Pichi, Francesco; Lembo, Andrea; Serafino, Massimiliano; Nucci, Paolo

    2016-01-01

    Congenital cataract is a type of cataract that presents at birth or during early childhood, and it is one of the most easily treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1-6 cases per 10,000 live births. Approximately 50% of all congenital cataract cases may have a genetic cause, and such cases are quite heterogeneous. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains the most common cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of fiber cells and homeostasis of the lens proteins in terms of their concentrations, stabilities, and supramolecular organization. Research on hereditary congenital cataract has led to the identification of several classes of candidate genes that encode proteins such crystallins, lens-specific connexins, aquaporin, cytoskeletal structural proteins, and developmental regulators. In this review, we highlight the identified genetic mutations that account for congenital nuclear cataract.

  11. What Are Congenital Heart Defects?

    MedlinePlus

    ... heart disease. Google+ Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/ ... in the journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI- ...

  12. Types of Congenital Heart Defects

    MedlinePlus

    ... heart disease. Google+ Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/ ... in the journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI- ...

  13. Environmental aspects of congenital scoliosis.

    PubMed

    Li, Zheng; Yu, Xin; Shen, Jianxiong

    2015-04-01

    Growing evidence has proved that many aspects of our lifestyle and the environment contribute to the development of congenital disease. Congenital spinal deformities are due to anomalous development of the vertebrae including failure of formation and segmentation during embryogenesis. The causes of congenital scoliosis have not been fully identified. A variety of factors are implicated in the development of vertebral abnormalities. Previous studies have demonstrated that both genetics and environmental factors are implicated in the development of vertebral abnormalities. However, no specific cause for congenital scoliosis has been identified. In our review, we focus on the environmental factors for the development of congenital scoliosis. Various maternal exposures during pregnancy including hypoxia, alcohol use, vitamin deficiency, valproic acid, boric acid, and hyperthermia have been observed to be associated with the occurrence of congenital scoliosis. This review describes the major environmental contributors of congenital scoliosis with an emphasis on treatment aspects associated with environmental disposition in congenital scoliosis.

  14. Genetics Home Reference: congenital hyperinsulinism

    MedlinePlus

    ... of infancy Great Ormond Street Hospital for Children (UK) Merck Manual Consumer Version: Hypoglycemia Orphanet: Congenital isolated ... Diseases Congenital Hyperinsulinism International The Children's Hyperinsulinism Fund (UK) GeneReviews (1 link) Familial Hyperinsulinism ClinicalTrials.gov (1 ...

  15. Leber's congenital amaurosis.

    PubMed

    Mizuno, K; Takei, Y; Sears, M L; Peterson, W S; Carr, R E; Jampol, L M

    1977-01-01

    An early stage of Leber's congenital amaurosis, characterized by white spots or lines in the fundus, occurred in two children. Light microscopic examination of eyes obtained from one child, a 16-month-old Japanese girl, revealed subretinal deposits corresponding to the white spots and lines in the fundus deposits. Light and electron microscopic examination of the eye showed distinctive changes in the outer retinal layers and choroid, while the inner retinal layers were nearly normal. Characteristic early lesions of congenital amaurosis appeared to be produced by deposits consisting of loose outer segments and apical processes of the pigmental epithelial cell and macrophages. Undifferentiation in the nuclei of the photoreceptor cell, the inner segment, the pigment epithelial cell, and the choriocapillaris were likely characteristics of the early changes of congenital amaurosis.

  16. Leber's congenital amaurosis.

    PubMed

    De Laey, J J

    1991-01-01

    Leber's congenital amaurosis is an autosomal recessive disorder, characterized by the onset of blindness before the age of 6 months, a variable fundus aspect and an absent or extremely pathological ERG. The disorder may be isolated or associated with systemic involvement, such as nephronophtisis (Senior-Loken syndrome), nephronophtisis, cone-shaped epiphyses of the hand and cerebellar ataxia (Saldino-Mainzer syndrome), vermis hypoplasia, oculomotor anomalies and respiratory problems in the neonatal period (Joubert syndrome) or cardiomyopathy. It should be differentiated from other forms or chorioretinal dystrophies (juvenile retinitis pigmentosa or congenital stationary night blindness), cortical blindness or maturation delay and metabolic disorders. Children with possible congenital Leber amaurosis should not only have a thorough ophthalmological examination, but should also be seen by a paediatrician experienced in metabolic disorders.

  17. Severe hyponatremia and repeated intestinal resections for intestinal dysmotility mimicking congenital aganglionic megacolon due to delay in the diagnosis of congenital hypothyroidism

    PubMed Central

    Buyukyilmaz, Gonul; Baltu, Demet; Soyer, Tutku; Tanyıldız, Murat

    2016-01-01

    Congenital hypothyroidism (CH) may present with nonspecific signs and symptoms, though, majority of infants can be asymptomatic. Therefore, understimation and delay in diagnosis may result in severe complications. A 5-month-old female admitted to our clinic with the history of repeated surgical operations due to the diagnosis of congenital aganglionic megacolon. Investigations performed in our clinic revealed the diagnosis of congenital (primary) hypothyroidism due to thyroid agenesis. Histopathologic evaluation of previously resected colon sample revealed normal ganglionic cell included colon. During follow-up she developed severe hyponatremia with a plasma sodium level of 106 mEq/L. Eunatremia was maintained following achievement of euthyroid state. In conclusion, since presenting symptoms can be variable and nonspecific, hypotyhroidism should be kept in mind in the differential diagnosis of patients with persistent abdominal distention mimicking aganglionic megacolon and severe hyponatremia of unknown origin. PMID:28164077

  18. Severe hyponatremia and repeated intestinal resections for intestinal dysmotility mimicking congenital aganglionic megacolon due to delay in the diagnosis of congenital hypothyroidism.

    PubMed

    Buyukyilmaz, Gonul; Baltu, Demet; Soyer, Tutku; Tanyıldız, Murat; Demirbilek, Huseyin

    2016-12-01

    Congenital hypothyroidism (CH) may present with nonspecific signs and symptoms, though, majority of infants can be asymptomatic. Therefore, understimation and delay in diagnosis may result in severe complications. A 5-month-old female admitted to our clinic with the history of repeated surgical operations due to the diagnosis of congenital aganglionic megacolon. Investigations performed in our clinic revealed the diagnosis of congenital (primary) hypothyroidism due to thyroid agenesis. Histopathologic evaluation of previously resected colon sample revealed normal ganglionic cell included colon. During follow-up she developed severe hyponatremia with a plasma sodium level of 106 mEq/L. Eunatremia was maintained following achievement of euthyroid state. In conclusion, since presenting symptoms can be variable and nonspecific, hypotyhroidism should be kept in mind in the differential diagnosis of patients with persistent abdominal distention mimicking aganglionic megacolon and severe hyponatremia of unknown origin.

  19. Congenital Hemolytic Anemia.

    PubMed

    Haley, Kristina

    2017-03-01

    Red blood cell (RBC) destruction can be secondary to intrinsic disorders of the RBC or to extrinsic causes. In the congenital hemolytic anemias, intrinsic RBC enzyme, RBC membrane, and hemoglobin disorders result in hemolysis. The typical clinical presentation is a patient with pallor, anemia, jaundice, and often splenomegaly. The laboratory features include anemia, hyperbilirubinemia, and reticulocytosis. For some congenital hemolytic anemias, splenectomy is curative. However, in other diseases, avoidance of drugs and toxins is the best therapy. Supportive care with transfusions are also mainstays of therapy. Chronic hemolysis often results in the formation of gallstones, and cholecystectomy is often indicated.

  20. Congenital brain infections.

    PubMed

    Arbelaez, Andres; Restrepo, Feliza; Davila, Jorge; Castillo, Mauricio

    2014-06-01

    Pediatric congenital intracranial infections are a group of different and important entities that constitute a small percentage of all pediatric infections. The causal factors and clinical presentations are different in children compared with adults. They require early recognition because delay diagnosis and initiation of treatment may have catastrophic consequences. Despite improvements in prenatal screening, vaccine safety, and antibiotics, infections of the central nervous system remain an important cause of neurological disabilities worldwide. This article reviews the most common congenital infections and their imaging findings.

  1. Congenital Adrenal Hyperplasia

    PubMed Central

    Speiser, Phyllis W.

    2015-01-01

    Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years, F1000 has published numerous commentaries updating research and practical guidelines for this condition. The purposes of this review are to summarize basic information defining congenital adrenal hyperplasia and to highlight current knowledge and controversies in management. PMID:26339484

  2. Congenital Toxoplasmosis: A Review.

    PubMed

    Hampton, Marissa Martinez

    2015-01-01

    Acute infection of toxoplasmosis during pregnancy is detrimental to the developing fetus. In the United States, approximately 1 in 10,000 live births are affected by congenital toxoplasmosis. Although multifactorial in etiology, maternal infection is primarily attributed to the consumption of contaminated meat or water. Infection and transmission to the fetus may result in devastating neurologic impairment. Screening methods for all pregnant women should be implemented in routine prenatal care. This article will highlight the inherent dangers of congenital toxoplasmosis, while including general care of the fetus for prevention of transmission, medical management, and long-term outcomes.

  3. Localised inhibition of FGF signalling in the third pharyngeal pouch is required for normal thymus and parathyroid organogenesis.

    PubMed

    Gardiner, Jennifer R; Jackson, Abigail L; Gordon, Julie; Lickert, Heiko; Manley, Nancy R; Basson, M Albert

    2012-09-01

    The thymus and parathyroid glands are derived from the third pharyngeal pouch endoderm. The mechanisms that establish distinct molecular domains in the third pouch and control the subsequent separation of these organ primordia from the pharynx are poorly understood. Here, we report that mouse embryos that lack two FGF feedback antagonists, Spry1 and Spry2, display parathyroid and thymus hypoplasia and a failure of these organ primordia to completely separate from the pharynx. We show that FGF ligands and downstream reporter genes are expressed in highly regionalised patterns in the third pouch and that sprouty gene deletion results in upregulated FGF signalling throughout the pouch endoderm. As a consequence, the initiation of markers of parathyroid and thymus fate is altered. In addition, a normal apoptotic programme that is associated with the separation of the primordia from the pharynx is disrupted, resulting in the maintenance of a thymus-pharynx attachment and a subsequent inability of the thymus to migrate to its appropriate position above the heart. We demonstrate that the sprouty genes function in the pharyngeal endoderm itself to control these processes and that the defects in sprouty-deficient mutants are, at least in part, due to hyper-responsiveness to Fgf8. Finally, we provide evidence to suggest that parathyroid hypoplasia in these mutants is due to early gene expression defects in the third pouch, whereas thymus hypoplasia is caused by reduced proliferation of thymic epithelial cells in the thymus primordium.

  4. The Promoting Effect of Carbamide Peroxide Teeth Bleaching Gel in a Preclinical Model of Head and Neck Cancer in Hamster Buccal Pouch

    PubMed Central

    Ferreira Vilela, Wadson; Vilela Gonçalves, Reggiani; Tavares Rheingantz, Maria Gabriela; Minello, Luiz Fernando; Braga da Silva, Jefferson Luis; Oliveira de Oliveira, Laura Beatriz

    2014-01-01

    Objectives The aim of this study was to verify the promoting effect of carbamide peroxide on dimethylbenzanthracene (DMBA)-induced carcinogenesis in the hamster buccal pouch, in order to reduce the period of latency for tumor formation. Methods Sixteen hamsters were randomized into two groups of eight animals each. The hamsters of the group I had their right buccal pouches treated with 0.5% DMBA and 10% carbamide peroxide teeth bleaching gel for 55 days. The animals of the group II had their right pouches treated only with DMBA. After, six animals of each group had their pouches prepared for light microscopy. Histomorphometry was performed to assess the presence of keratinization, nuclear polymorphism, pattern of invasion, number of blood vessels, and inflammatory infiltrate in the tumor front. Furthermore, the newly formed lesions were graded according the Bryne's grading system. The remaining animals had the vascular system of the pouches casted by Mercox and qualitatively analyzed by scanning electron microscopy. Results Histopathological analysis of the buccal pouches treated with DMBA and carbamide peroxide exhibited formation of squamous cell carcinoma well-differentiated with a high degree of malignancy in all pouches. The development of this neoplasm was associated with a significant increase in the number of blood vessels, presence of keratin pearls, and inflammatory infiltrate. The pouches of the group II showed inflammation, epithelial hyperplasia, dysplasia, and squamous cell carcinoma in only three right pouches. The analysis of the electron micrographs of the pouches chemically inducted with DBMA and carbamide peroxide reveled formation of a new vascular network characteristic of squamous cell carcinoma. Conclusion The protocol presented here, using DMBA associated with carbamide peroxide, shortens the period of latency to produce squamous cell carcinoma in the hamster buccal pouch, decreasing the time and costs of the experiments. PMID:25177438

  5. Adult Congenital Heart Association

    MedlinePlus

    ... my congenital heart … Read More Let's Talk About Love... BY Kelly DiMaggio Being in love and in a relationship is one of the ... are born they have … Read More Learning to Love the Scar BY Clare Almand I wrote about ...

  6. Congenital adrenal hyperplasia

    MedlinePlus

    ... or inappropriately). Congenital adrenal hyperplasia can affect both boys and girls. About 1 in 10,000 to 18,000 ... penis but normal testes Well-developed muscles Both boys and girls will be tall as children, but much shorter ...

  7. Postprocess contamination of flexible pouches challenged by in situ immersion biotest.

    PubMed

    Song, Y S; Hargraves, W A

    1998-12-01

    Packages were evaluated for leaks by determining microbial penetration through microchannels as a function of test organism concentration, location in a retort, and microchannel diameter and length. A flexible pouch was used in an in situ immersion biotest coupled with a state-of-the-art retort. Microchannel diameters of 10 to 661 microm with 3- and 6-mm lengths were created by placing tungsten wires in vacuum heat-sealed flexible pouches. After removing the wires, these pouches were subsequently heat processed under pressure. They were then biotested in cooling water containing 10(3) and 10(6) CFU of motile Enterobacter aerogenes per ml for 30 min and were dried immediately after manual unloading. After incubation at 37 degrees C for 3 days, they were visually examined for contamination. The high-temperature retorting process was shown to decrease microchannel diameters by an average of 20%. Generally, the smaller the microchannel diameter, the greater the percent shrinkage. Statistical analysis of the biotesting data showed that microchannel diameter and length had strong effects on microbial penetration (P < 0.01). Microbial concentration had a borderline significant effect (P < 0.05), but the effect of package location in the retort was not significant. At conservative conditions, such as a 3-mm microchannel length and a cooling water contamination level of 10(6) CFU/ml, the selected microorganism can penetrate microchannels with diameters as small as 7 microm. However, the minimum microchannel diameter for penetration could be as large as 46 microm at practical conditions of 6-mm microchannel length and contamination levels of 10(3) CFU/ml.

  8. Association between gastro-intestinal symptoms and menstruation in patients with ileal pouches

    PubMed Central

    Bharadwaj, Shishira; Wu, Xian-rui; Barber, Matthew D.; Queener, Elaine; Graff, Lesley; Shen, Bo

    2014-01-01

    Background and aims: Gastro-intestinal (GI) symptoms are often experienced by healthy women during menstruation. An increased frequency of GI symptoms during menses has also been reported in women with irritable bowel syndrome or inflammatory bowel disease (IBD); however, IBD patients with restorative proctocolectomy and ileal pouch-anal anastomoses (IPAA) have not been studied. We aimed to examine the association between GI symptoms before and during menses in patients with IPAA, and to assess factors for exacerbation of GI symptoms in those patients. Methods: Adult women recorded in the Pouchitis Registry were invited to participate in a mailed survey. Participants reported on GI symptoms 1–5 days prior to- (pre-menses) and during the days of their menses in recent months. Demographic and clinical variables were obtained through the survey and chart review. Results: One hundred and twenty-eight (21.3%) out of 600 women with IPAA responded to the survey questionnaire. Forty-three (33.5%) were excluded for reasons including post-menopausal (n = 25), hysterectomy (n = 14) and use of contraceptives (n = 4). Abdominal pain (P = 0.001), diarrhea (P = 0.021), and urgency (P = 0.031) were more commonly reported during menses than pre-menses by the participants. Only a history of painful menses was significantly associated with increased GI symptoms during menses for patients with ileal pouch (odds ratio = 5.67; 95% confidence interval: 1.41–22.88; P = 0.015). Conclusion: GI symptoms such as abdominal pain, diarrhea, and urgency are commonly associated with menses in patients with ileo-anal pouch. Painful menses may be associated with worsening of GI symptoms. PMID:25016379

  9. Effect of Withania somnifera on glycosaminoglycan synthesis in carrageenin-induced air pouch granuloma

    SciTech Connect

    Begum, V.H.; Sadique, J.

    1987-12-01

    The effect of W. somnifera on glycosaminoglycan synthesis in the granulation tissue of carrageenin-induced air pouch granuloma was studied. W. somnifera was shown to exert significant inhibitory effect on incorporation of /sup 35/S into the granulation tissue. The uncoupling effect on oxidative phosphorylation (ADP/O ratio reduction) was also observed in the mitochondria of granulation tissue. Further, Mg/sup 2 +/ dependent ATPase activity was found to be influenced by W. somnifera. W. somnifera also reduced the succinate dehydrogenase enzyme activity in the mitochondria of granulation tissue.

  10. In vitro inhibitory effect of onion extract on hamster buccal pouch carcinogenesis.

    PubMed

    Niukian, K; Schwartz, J; Shklar, G

    1987-01-01

    In vitro studies were performed that used varying concentrations of onion extract added to cell cultures of an epidermoid carcinoma cell line derived from hamster buccal pouch carcinoma (HCPC-1). The studies demonstrated tumor growth inhibition beginning after 24 hours of incubation at an onion extract concentration of 25% and above in culture media. After 4 days and 10 days of incubation, there was a noted decrease in tumor proliferation. The plating efficiency for 24 hours was observed to produce a 54-89% inhibition in plating density. The results indicated here provide in vitro evidence of the inhibitory and cytotoxic activity on an oral carcinoma cell line.

  11. Induction of CCR2-Dependent Macrophage Accumulation by Oxidized Phospholipids in the Air-Pouch Model of Inflammation

    PubMed Central

    Kadl, Alexandra; Galkina, Elena; Leitinger, Norbert

    2009-01-01

    Objective Macrophages are key players in the pathogenesis of rheumatoid synovitis as well as in atherosclerosis. To determine whether atherogenic oxidized phospholipids potentially contribute to synovial inflammation and subsequent monocyte/macrophage recruitment, we examined the effects of oxidized 1-palmitoyl-2-arachidonoyl-sn-3-glycero-phosphorylcholine (OxPAPC) on chemokine expression and leukocyte recruitment in a facsimile synovium in vivo using the murine air-pouch model. Methods Air pouches were raised by 2 injections of sterile air, and inflammation was induced by injecting either lipopolysaccharide (LPS) or OxPAPC into the pouch lumen. Inflammation was assessed by analysis of inflammatory gene expression using reverse transcription–polymerase chain reaction or immunohistochemical analysis, and leukocytes were quantified in the lavage fluid and in the pouch wall after staining with Giemsa or after enzymatic digestion followed by fluorescence-activated cell sorter analysis. Results Application of OxPAPC resulted in selective recruitment of monocyte/macrophages into the air-pouch wall, but not in the lumen. In contrast, LPS induced both monocyte and neutrophil accumulation in the pouch lumen as well as in the wall. LPS, but not OxPAPC, induced the expression of adhesion molecules E-selectin, P-selectin, intercellular adhesion molecule 1, and vascular cell adhesion molecule 1. OxPAPC increased the expression of the CCR2 ligands monocyte chemotactic protein 1 (MCP-1), MCP-3, and MCP-5, as well as RANTES and growth-related oncogene α (GROα), while it down-regulated the expression of CCR2 on macrophages. Moreover, oxidized phospholipid–induced macrophage accumulation was abrogated in CCR2−/− mice. Conclusion These data demonstrate that oxidized phospholipids trigger a type of inflammatory response that leads to selective macrophage accumulation in vivo, a process relevant for the pathogenesis of chronic inflammatory rheumatic diseases. PMID:19404946

  12. Stages of Colon Cancer

    MedlinePlus

    ... for information about colorectal cancer in children. Health history affects the risk of developing colon cancer. Anything ... colorectal cancer include the following: Having a family history of colon or rectal cancer in a first- ...

  13. Redo Ileal pouch-anal anastomosis combined with anti-TNF-α maintenance therapy for Crohn's disease with pelvic fistula: report of two cases.

    PubMed

    Araki, Toshimitsu; Okita, Yoshiki; Fujikawa, Hiroyuki; Ohi, Masaki; Tanaka, Koji; Inoue, Yasuhiro; Uchida, Keiichi; Mohri, Yasuhiko; Kusunoki, Masato

    2014-10-01

    Pouch failure has been reported to occur after ileal pouch-anal anastomosis for Crohn's disease. We report two cases of patients with Crohn's disease, who underwent redo ileal pouch-anal anastomosis (redo-IPAA) combined with anti-TNF-α maintenance therapy, with good functional results. The first patient, a man with presumed ulcerative colitis, suffered pelvic fistula recurrence and anastomotic dehiscence. He underwent redo-IPAA, at which time longitudinal ulcers were found. Infliximab was started 4 days postoperatively and continued. The second patient, a woman treated for ulcerative colitis, underwent laparoscopic IPAA 8 years later. After the development of a pelvic fistula, twisted mesentery of the ileal pouch was found intraoperatively and Crohn's disease was diagnosed. Adalimumab therapy resulted in fistula closure. Redo-IPAA was performed to normalize the twisted mesentery of the ileal pouch. No complications have been observed in either patient, both of whom have experienced good functional results after closure of the covering stomas.

  14. Thermal behavior and electrochemical heat generation in a commercial 40 Ah lithium ion pouch cell

    NASA Astrophysics Data System (ADS)

    Schuster, Elke; Ziebert, Carlos; Melcher, Andreas; Rohde, Magnus; Seifert, Hans Jürgen

    2015-07-01

    Quantitative data on the thermal behavior of lithium ion batteries under charging and discharging conditions are essential for designing thermal management systems and improving battery safety. In this work, commercial 40 Ah lithium ion pouch cells with Li(Ni1/3Mn1/3Co1/3)O2 cathodes were tested under isoperibolic and adiabatic conditions in an Accelerating Rate Calorimeter at different charging/discharging currents from 5 A to 40 A. Adiabatic tests simulate the worst-case scenario of a battery pack without cooling. For charging and discharging an overall exothermic behavior was found and a total temperature increase for one half cycle between 3 and 11 K. Isoperibolic tests simulate a single cell under constant environmental temperature. Here an exothermic behavior for discharging and an endothermic behavior for charging were observed. To transfer the measured temperature changes into heat data, the effective specific heat capacity and the heat transfer coefficient were determined. For the first time the heat generation data for a large format pouch cell have been determined using both isoperibolic and adiabatic conditions. These data were compared with the total heat data calculated as the sum of reversible and irreversible heat that were measured by potentiometric and current interruption techniques respectively. A good agreement was found between all three heat generation determination methods.

  15. The pouch and tunnel technique for management of multiple gingival recession defects

    PubMed Central

    Dani, Sneha; Dhage, Aditi; Gundannavar, Gayatri

    2014-01-01

    The desire for improved esthetics has increased tremendously over the years. Periodontal plastic surgery deals with regenerative procedures designed to restore form, function and enhance esthetics. The aim of this study was to evaluate the effectiveness of subepithelial connective tissue graft using pouch and tunnel technique as root coverage procedure. Three patients corresponding to a total of 8 sites participated in the study. Maxillary teeth with miller's class I gingival recession were included in the study. All the sites were treated using subepithelial connective tissue graft using pouch and tunneling technique. Patients were followed up for a period of 6 months and 1 year. All the treated teeth showed 100% root coverage at the end of 6 months and 1 year. Gingival recession is a common occurrence and its prevalence increases with age. It can lead to clinical problems, diminished cosmetic appeal and hence esthetic concern. There are various techniques for root coverage. Subepithelial connective tissue graft has shown the best predictability (95%) of root coverage in Millers class I & II cases. This technique preserves the intermediate papilla, accelerates the initial wound healing & also applies less traction. Due to minimal trauma at the recipient site, this procedure may be advantageous in treatment of recession as compared to other treatment modalities. PMID:25624637

  16. Congenital omental cyst

    PubMed Central

    Gupta, Rakesh Kumar; Sah, Suresh; Sah, Panna Lal; Shah, Birendra Prasad

    2012-01-01

    Congenital omental cysts are rare intra-abdominal pathology, which are difficult to diagnose preoperatively; as such a high index of suspicion is required for accurate preoperative diagnosis. We present a case of congenital omental cyst in a 3-year-old girl who presented with huge abdominal distension. We performed diagnostic examinations including ultrasonography and CT of the abdomen. An omental cyst was diagnosed because of its position and connection to the surrounding tissues. She was operated and cyst was excised completely. Histological examination revealed an omental cyst with endothelial lining and haemorrhagic fluid inside. She had an uneventful recovery and doing well, without recurrence at follow-up of 24 months. Clinicians must rigorously pursue a preoperative diagnosis, as it may prevent a surprise upon laparotomy and result in proper management. PMID:22865812

  17. Congenital Orbital Teratoma

    PubMed Central

    Pellerano, Fernando; Guillermo, Elvis; Garrido, Gloreley; Berges, Pedro

    2017-01-01

    We report a case of congenital orbital teratoma. A 3-day-old male, born at 39 weeks’ gestation without relevant prenatal history, presented with a large vascularized proptotic mass distorting the left midface. Laboratory studies showed elevated serum alpha-fetoprotein (12,910 ng/ml). Computed tomography showed a multiloculated heterogeneous lesion composed of hypodense and hyperdense calcified areas encompassing the whole orbital cavity with expansion of the bony walls, as well as forward displacement and compression of the eyeball without extension to surrounding structures. Clinical, imaging and laboratory features were consistent with congenital orbital teratoma. Due to pronounced proptosis with exposure keratopathy and corneal perforation, no motility of the globe and no vision in the affected eye in a resource-limited setting, the patient underwent orbital exenteration. Histopathological examination confirmed the diagnosis of mature cystic teratoma. We describe the clinical course, radiographic and histopathological findings of this rare orbital tumor. PMID:28275597

  18. Congenital Orbital Teratoma.

    PubMed

    Pellerano, Fernando; Guillermo, Elvis; Garrido, Gloreley; Berges, Pedro

    2017-01-01

    We report a case of congenital orbital teratoma. A 3-day-old male, born at 39 weeks' gestation without relevant prenatal history, presented with a large vascularized proptotic mass distorting the left midface. Laboratory studies showed elevated serum alpha-fetoprotein (12,910 ng/ml). Computed tomography showed a multiloculated heterogeneous lesion composed of hypodense and hyperdense calcified areas encompassing the whole orbital cavity with expansion of the bony walls, as well as forward displacement and compression of the eyeball without extension to surrounding structures. Clinical, imaging and laboratory features were consistent with congenital orbital teratoma. Due to pronounced proptosis with exposure keratopathy and corneal perforation, no motility of the globe and no vision in the affected eye in a resource-limited setting, the patient underwent orbital exenteration. Histopathological examination confirmed the diagnosis of mature cystic teratoma. We describe the clinical course, radiographic and histopathological findings of this rare orbital tumor.

  19. Possible rare congenital dysinnervation disorder: congenital ptosis associated with adduction.

    PubMed

    Mendes, Sílvia; Beselga, Diana; Campos, Sónia; Neves, Arminda; Campos, Joana; Carvalho, Sílvia; Silva, Eduardo; Castro Sousa, João Paulo

    2015-01-01

    Ptosis is defined as an abnormally low position of the upper eyelid margin. It can be congenital or acquired, uni or bilateral, and isolated or associated with other ocular and nonocular defects. We report a case of a female child, aged 8 years, with congenital right ptosis increased on right adduction and with left ptosis on left adduction. There was no horizontal ocular movement limitation. Apparent underaction of the right inferior oblique muscle was also present. We believe that within the possible mechanisms it is more likely that it is a congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorder (CCDD).

  20. Leber congenital amaurosis.

    PubMed

    Perrault, I; Rozet, J M; Gerber, S; Ghazi, I; Leowski, C; Ducroq, D; Souied, E; Dufier, J L; Munnich, A; Kaplan, J

    1999-10-01

    Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies responsible for congenital blindness. Genetic heterogeneity of LCA has been suspected since the report by Waardenburg of normal children born to affected parents. In 1995, we localized the first disease causing gene, LCA1, to chromosome 17p13 and confirmed the genetic heterogeneity. In 1996, we ascribed LCA1 to mutations in the photoreceptor-specific guanylate cyclase gene (retGC1). RetGC1 is an essential protein implicated in the phototransduction cascade, especially in the recovery of the dark state after the excitation process of photoreceptor cells by light stimulation. In 1997, mutations in a second gene were reported in LCA, the RPE65 gene, which is the first specific retinal pigment epithelium gene. The protein RPE65 is implicated in the metabolism of vitamin A, the precursor of the photoexcitable retinal pigment (rhodopsin). Finally, a third gene, CRX, implicated in photoreceptor development, has been suspected of causing a few cases of LCA. Taken together, these three genes account for only 27% of LCA cases in our series. The three genes encode proteins that are involved in completely different physiopathologic pathways. Based on these striking differences of physiopathologic processes, we reexamined all clinical physiopathological discrepancies and the results strongly suggested that retGC1 gene mutations are responsible for congenital stationary severe cone-rod dystrophy, while RPE65 gene mutations are responsible for congenital severe but progressive rod-cone dystrophy. It is of tremendous importance to confirm and to refine these genotype-phenotype correlations on a large scale in order to anticipate the final outcome in a blind infant, on the one hand, and to further guide genetic studies in older patients on the other hand.

  1. Congenital amaurosis of Leber.

    PubMed

    Gillespie, F D

    1966-05-01

    In two families with congenital amaurosis of Leber, keratoglobus was found in all affected members and posterior subcapsular cataracts in most of them. Consanguinity was present in one family. Pathologic findings in one enucleated eye were presented. The literature on this disease was briefly reviewed. Whether the disease is a definite clinical or genetic entity and whether it might be an agenesis or an abiotrophy, or both, were discussed.

  2. Congenital hearing loss.

    PubMed

    Korver, Anna M H; Smith, Richard J H; Van Camp, Guy; Schleiss, Mark R; Bitner-Glindzicz, Maria A K; Lustig, Lawrence R; Usami, Shin-Ichi; Boudewyns, An N

    2017-01-12

    Congenital hearing loss (hearing loss that is present at birth) is one of the most prevalent chronic conditions in children. In the majority of developed countries, neonatal hearing screening programmes enable early detection; early intervention will prevent delays in speech and language development and has long-lasting beneficial effects on social and emotional development and quality of life. A diagnosis of hearing loss is usually followed by a search for an underlying aetiology. Congenital hearing loss might be attributed to environmental and prenatal factors, which prevail in low-income settings; congenital infections, particularly cytomegalovirus infection, are also a common risk factor for hearing loss. Genetic causes probably account for the majority of cases in developed countries; mutations can affect any component of the hearing pathway, in particular, inner ear homeostasis (endolymph production and maintenance) and mechano-electrical transduction (the conversion of a mechanical stimulus into electrochemical activity). Once the underlying cause of hearing loss is established, it might direct therapeutic decision making and guide prevention and (genetic) counselling. Management options include specific antimicrobial therapies, surgical treatment of craniofacial abnormalities and implantable or non-implantable hearing devices. An improved understanding of the pathophysiology and molecular mechanisms that underlie hearing loss and increased awareness of recent advances in genetic testing will promote the development of new treatment and screening strategies.

  3. [Congenital insensitivity to pain].

    PubMed

    Popko, Janusz; Karpiński, Michał; Guszczyn, Tomasz

    2014-02-01

    Congenital insensitivity to pain belongs to rare diseases called hereditary sensory neuropathy (HSN). The disturbance of sense and secondary harms are creating clinical picture. The aim of this report was to describe therapeutic problems with which we met with a three siblings with congenital insensitivity to pain. The authors have described three children with congenital insensitivity to pain. The disease was diagnosed at the age of 3-5. These children painlessly have broken their lower limbs. These fractures were late diagnosed what resulted in a badly healed deformation of legs. For this reason, the right knee of the oldest boy had to be stiffened. This boy had also late diagnosed the left hip luxation, and hematomas had arisen, which become filled with pus. The boy was in sepsis and a dramatic life-and-death struggle was performed. A purulent focuses were removed from abdomen and femoral head was also resected. The other two siblings had fractures and infections, but not such severe as the oldest boy. It is well known that a causal treatment of this disease in unknown. Patients must learn to avoid mechanical and thermal trauma. It is the only way to prevent complications of this disease.

  4. [Congenital knee dislocation: case report].

    PubMed

    Arvinius, C; Luque, R; Díaz-Ceacero, C; Marco, F

    2016-01-01

    Congenital knee dislocation is an infrequent condition with unknown etiology. In some cases it occurs as an isolated condition, while in others it coexists with associated conditions or syndromes. The treatment of congenital knee dislocation is driven by the severity and flexibility of the deformity. The literature includes from serial casting or the Pavlik harness to quadriceps tendon plasty or femoral osteotomies. We report herein the case of a congenital dislocation treated with serial casting with a good outcome.

  5. Radiology of congenital heart disease

    SciTech Connect

    Amplatz, K.

    1986-01-01

    This is a text on the radiologic diagnosis of congenital heart disease and its clinical manifestations. The main thrust of the book is the logical approach which allows an understanding of the complex theory of congenital heart disease. The atlas gives a concise overview of the entire field of congenital heart disease. Emphasis is placed on the understanding of the pathophysiology and its clinical and radiological consequences. Surgical treatment is included since it provides a different viewpoint of the anatomy.

  6. Primary congenital bladder diverticula: Where does the ureter drain?

    PubMed Central

    Macedo, Antonio; Garrone, Gilmar; Ottoni, Sérgio Leite; Oliveira, Diego Estevam; do Rosário Souza, Geórgia Rubiane Meira; da Cruz, Marcela Leal

    2015-01-01

    Background: Primary congenital bladder diverticulum (PCBD) is related to a deficient detrusor layer allowing out-pouching of the bladder mucosa through the inadequate muscularis wall. We aimed to review our experience with symptomatic PCBD in order to correlate clinical findings with anatomical aspects and to present late outcome. Materials and Methods: We reviewed all patients operated in our institution since 2004. We evaluated the charts for complaints, radiological exams, method of treatment, complications and length of follow-up. Results: We treated 10 cases (11 renal units - [RU]), predominantly males (9/10), mean age at surgery of 5.3 years. All patients had significant urological complaints presenting either with antenatal hydronephrosis (4) or febrile urinary tract infection (5) and urinary retention in one. The ureter was found implanted inside the diverticulum in 8/11 RU. An extravesical psoas-hitch ureteroneocystostomy and diverticulum resection was performed in 10/11 cases, whereas 1 case was treated intravesically based on surgeon's preference without performing cystoscopy. Mean follow-up was 34.1 months (1-120) without complications. Conclusions: PCBD is an uncommon diagnosis and has a high probability of drainage inside the diverticulum (72.7%). We recommend the extravesical approach associated with diverticulectomy and ureteroneocystostomy as the preferred technique to treat this abnormality. PMID:26712296

  7. Perchloric acid-soluble proteins from goat liver inhibit chemical carcinogenesis of Syrian hamster cheek-pouch carcinoma

    PubMed Central

    Ghezzo, F; Berta, G N; Bussolati, B; Bosio, A; Corvetti, G; Di Carlo, F; Bussolati, G; Guglielmone, R; Bartorelli, A

    1999-01-01

    Chemically induced Syrian hamster cheek-pouch squamous cell carcinoma is very similar to the corresponding human tumour. This paper describes a blind study in which inhibition of dimethylbenzanthracene-induced cheek-pouch tumours by a goat liver extract denominated UK101 was investigated. Less than 40% of animals treated with UK101 developed tumours compared with 100% of the controls. Intermediate results (80%) were noted in a positive control group treated with Calmette–Guérin bacillus. Immunocytochemical testing of cheek-pouch mucosa by Mib5 showed significantly less proliferating cells in UK101 animals than in the controls. The effect of UK101 was completely reversed when dexamethasone was added in a third control group. A significant difference in complement-mediated cytotoxicity was noted in the sera of UK101-tested and control animals. These findings suggest that an immune mechanism is responsible for the inhibition of hamster cheek-pouch carcinoma by UK101. © 1999 Cancer Research Campaign PMID:10408693

  8. Pouchitis-associated iritis (uveitis) following total proctocolectomy and ileal pouch-to-anal anastomosis in ulcerative colitis.

    PubMed

    Freeman, H J

    2001-02-01

    A 26-year-old woman with ulcerative colitis treated with a proctocolectomy and ileal pouch-to-anal anastomosis developed an erosive and ulcerative pouchitis. Although no ophthalmological manifestations were present before the staged surgical procedures, iritis developed after appearance of the pouchitis. Both conditions subsequently resolved with oral corticosteroids and metronidazole.

  9. Molecular and Genetic Studies of Congenital Myopathies

    ClinicalTrials.gov

    2016-12-08

    Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

  10. Label-free vascular imaging in a spontaneous hamster cheek pouch carcinogen model for pre-cancer detection (Conference Presentation)

    NASA Astrophysics Data System (ADS)

    Hu, Fangyao; Morhard, Robert; Liu, Heather; Murphy, Helen; Farsiu, Sina; Ramanujam, Nimmi

    2016-03-01

    Inducing angiogenesis is one hallmark of cancer. Tumor induced neovasculature is often characterized as leaky, tortuous and chaotic, unlike a highly organized normal vasculature. Additionally, in the course of carcinogenesis, angiogenesis precedes a visible lesion. Tumor cannot grow beyond 1-2 mm in diameter without inducing angiogenesis. Therefore, capturing the event of angiogenesis may aid early detection of pre-cancer -important for better treatment prognoses in regions that lack the resources to manage invasive cancer. In this study, we imaged the neovascularization in vivo in a spontaneous hamster cheek pouch carcinogen model using a, non-invasive, label-free, high resolution, reflected-light spectral darkfield microscope. Hamsters' cheek pouches were painted with 7,12-Dimethylbenz[a]anthracene (DMBA) to induce pre-cancerous to cancerous changes, or mineral oil as control. High resolution spectral darkfield images were obtained over the course of pre-cancer development and in control cheek pouches. The vasculature was segmented with a multi-scale Gabor filter with an 85% accuracy compared with manually traced masks. Highly tortuous vasculature was observed only in the DMBA treated cheek pouches as early as 6 weeks of treatment. In addition, the highly tortuous vessels could be identified before a visible lesion occurred later during the treatment. The vessel patterns as determined by the tortuosity index were significantly different from that of the control cheek pouch. This preliminary study suggests that high-resolution darkfield microscopy is promising tool for pre-cancer and early cancer detection in low resource settings.

  11. Carvedilol alleviates adjuvant-induced arthritis and subcutaneous air pouch edema: Modulation of oxidative stress and inflammatory mediators

    SciTech Connect

    Arab, Hany H.; El-Sawalhi, Maha M.

    2013-04-15

    Rheumatoid arthritis (RA) is a systemic inflammatory disease with cardiovascular complications as the leading cause of morbidity. Carvedilol is an adrenergic antagonist which has been safely used in treatment of several cardiovascular disorders. Given that carvedilol has powerful antioxidant/anti-inflammatory properties, we aimed to investigate its protective potential against arthritis that may add further benefits for its clinical usefulness especially in RA patients with concomitant cardiovascular disorders. Two models were studied in the same rat; adjuvant arthritis and subcutaneous air pouch edema. Carvedilol (10 mg/kg/day p.o. for 21 days) effectively suppressed inflammation in both models with comparable efficacy to the standard anti-inflammatory diclofenac (5 mg/kg/day p.o.). Notably, carvedilol inhibited paw edema and abrogated the leukocyte invasion to air pouch exudates. The latter observation was confirmed by the histopathological assessment of the pouch lining that revealed mitigation of immuno-inflammatory cell influx. Carvedilol reduced/normalized oxidative stress markers (lipid peroxides, nitric oxide and protein thiols) and lowered the release of inflammatory cytokines (TNF-α and IL-6), and eicosanoids (PGE{sub 2} and LTB{sub 4}) in sera and exudates of arthritic rats. Interestingly, carvedilol, per se, didn't present any effect on assessed biochemical parameters in normal rats. Together, the current study highlights evidences for the promising anti-arthritic effects of carvedilol that could be mediated through attenuation of leukocyte migration, alleviation of oxidative stress and suppression of proinflammatory cytokines and eicosanoids. - Highlights: ► Carvedilol possesses promising anti-arthritic properties. ► It markedly suppressed inflammation in adjuvant arthritis and air pouch edema. ► It abrogated the leukocyte invasion to air pouch exudates and linings. ► It reduced/normalized oxidative stress markers in sera and exudates of

  12. J-pouch versus Roux-en-Y reconstruction after gastrectomy: functional assessment and quality of life (randomized trial)

    PubMed Central

    Zonča, Pavel; Malý, Tomáš; Ihnát, Peter; Peteja, Matus; Kraft, Otakar; Kuca, Kamil

    2017-01-01

    Purpose The aim of this study was to evaluate the quality of life and functional emptying of J-pouch versus Roux-en-Y reconstruction after total gastrectomy for malignancy. Methods This study was designed as a prospective, nonblinded, randomized, parallel clinical trial (Trial Number: MN Ostrava, 200604). With informed consent, patients undergoing gastrectomy for malignancy were randomized to J-pouch or Roux-en-Y reconstruction. The time taken for a test semisolid meal labeled with 99mTc-sulfur colloid to exit the reconstructed parts was measured by dynamic scintigraphy 1 year after resection. Quality of life was measured using the Eypasch questionnaire at the same time as functional emptying assessment. This trial was investigator-initiated. Results In all, 72 patients were included into the study. The time taken for the test meal to exit the postgastrectomy reconstruction was 16.5±10.0 minutes (mean ± standard deviation) in the Roux-en-Y group and 89.4±37.8 minutes in the “J-pouch” group; the difference was statistically significant (P<0.001). Emptying of the J-pouch appeared to be a linear decreasing function compared to the exponential pattern seen in the Roux-en-Y group. The quality of life measurement showed scores of 106±18.8 points (mean ± standard deviation) in the Roux-en-Y group compared to 122±22.5 points in the J-pouch group; the difference was statistically significant (P=0.0016). There were no important adverse events. Conclusion After total gastrectomy, a J-pouch reconstruction empties more slowly and is associated with higher quality of life compared to Roux-en-Y reconstruction. Whether these two observations have a direct causative link remains unanswered. PMID:28031718

  13. Ileal lesions in patients with ulcerative colitis after ileo-rectal anastomosis: Relationship with colonic metaplasia

    PubMed Central

    Biancone, Livia; Calabrese, Emma; Palmieri, Giampiero; Petruzziello, Carmelina; Onali, Sara; Sica, Giuseppe Sigismondo; Cossignani, Marta; Condino, Giovanna; Das, Kiron Moy; Pallone, Francesco

    2008-01-01

    AIM: To assess whether in ulcerative colitis (UC) patients with ileo-rectal anastomosis (IRA), ileal lesions may develop in the neo-terminal-ileum and their possible relation with phenotypic changes towards colonic epithelium. METHODS: A total of 19 patients with IRA under regular follow up were enrolled, including 11 UC and 8 controls (6 Crohn’s disease, CD; 1 familial adenomatous polyposis, FAP; 1 colon cancer, colon K). Ileal lesions were identified by ileoscopy with biopsies taken from the ileum (involved and uninvolved) and from the rectal stump. Staining included HE and immunohistochemistry using monoclonal antibodies against colonic epithelial protein CEP (Das-1) and human tropomyosin isoform 5, hTM5 (CG3). Possible relation between development of colonic metaplasia and ileal lesions was investigated. RESULTS: Stenosing adenocarcinoma of the rectal stump was detected in 1 UC patient. The neo-terminal ileum was therefore investigated in 10/11 UC patients. Ileal ulcers were detected in 7/10 UC, associated with colonic metaplasia in 4/7 (57.1%) and Das-1 and CG3 reactivity in 3/4 UC. In controls, recurrence occurred in 4/6 CD, associated with colonic metaplasia in 3/4 and reactivity with Das-1 and CG3 in 2/3. CONCLUSION: Present findings suggest that in UC, ileal lesions associated with changes towards colonic epithelium may develop also after IRA. Changes of the ileal content after colectomy may contribute to the development of colonic metaplasia, leading to ileal lesions both in the pouch and in the neo-terminal ileum after IRA. PMID:18785281

  14. Congenital protein hypoglycosylation diseases

    PubMed Central

    Sparks, Susan E

    2012-01-01

    Glycosylation is an essential process by which sugars are attached to proteins and lipids. Complete lack of glycosylation is not compatible with life. Because of the widespread function of glycosylation, inherited disorders of glycosylation are multisystemic. Since the identification of the first defect on N-linked glycosylation in the 1980s, there are over 40 different congenital protein hypoglycosylation diseases. This review will include defects of N-linked glycosylation, O-linked glycosylation and disorders of combined N- and O-linked glycosylation. PMID:23776380

  15. Enhanced Contaminated Human Remains Pouch: initial development and preliminary performance assessments

    SciTech Connect

    Iseli, A.M.; Kwen, H.D.; Ul-Alam, M.; Balasubramanian, M.; Rajagopalan, S.

    2011-11-07

    The objective is to produce a proof of concept prototype Enhanced Contaminated Human Remains Pouch (ECHRP) with self-decontamination capability to provide increased protection to emergency response personnel. The key objective was to decrease the concentration of toxic chemicals through the use of an absorbent and reactive nanocellulose liner. Additionally, nanomaterials with biocidal properties were developed and tested as a 'stand-alone' treatment. The setting was a private company research laboratory. The main outcome measures were production of a functional prototype. A functional prototype capable of mitigating the threats due to sulfur mustard, Soman, and a large variety of liquid and vapor toxic industrial chemicals was produced. Stand-alone biocidal treatment efficacy was validated. The ECHRP provides superior protection from both chemical and biological hazards to various emergency response personnel and human remains handlers.

  16. Ultrasonography of wallaby prenatal development shows that the climb to the pouch begins in utero

    PubMed Central

    Drews, Barbara; Roellig, Kathleen; Menzies, Brandon R.; Shaw, Geoff; Buentjen, Ina; Herbert, Catherine A.; Hildebrandt, Thomas B.; Renfree, Marilyn B.

    2013-01-01

    Marsupials have a functional placenta for a shorter period of time compared to that of eutherian species, and their altricial young reach the teats without any help from the mother. We have monitored the short intrauterine development of one marsupial, the tammar wallaby, with high-resolution ultrasound from reactivation of the 100-cell diapausing blastocyst to birth. The expanding blastocyst could be visualized when it had reached a diameter of 1.5 mm. From at least halfway through pregnancy, there are strong undulating movements of the endometrium that massage the expanding vesicle against the highly secretory endometrial surface. These unique movements possibly enhance exchange of uterine secretions and gases between the mother and embryo. There was a constant rate of development measured ultrasonographically from mid-gestation, regardless of when the blastocyst reactivated. Interestingly climbing movements by the fetus began in utero about 3 days before birth, mimicking those required to climb to the pouch. PMID:23492830

  17. USING TRAINED POUCHED RATS TO DETECT LAND MINES: ANOTHER VICTORY FOR OPERANT CONDITIONING

    PubMed Central

    Poling, Alan; Weetjens, Bart; Cox, Christophe; Beyene, Negussie W; Bach, Harvard; Sully, Andrew

    2011-01-01

    We used giant African pouched rats (Cricetomys gambianus) as land mine-detection animals in Mozambique because they have an excellent sense of smell, weigh too little to activate mines, and are native to sub-Saharan Africa, and therefore are resistant to local parasites and diseases. In 2009 the rats searched 93,400 m2 of land, finding 41 mines and 54 other explosive devices. Humans with metal detectors found no additional mines. On average, the rats emitted 0.33 false alarm for every 100 m2 searched, which is below the threshold given by International Mine Action Standards for accrediting mine-detection animals. These findings indicate that Cricetomys are accurate mine-detection animals and merit continued use in this capacity. PMID:21709791

  18. Combination chemoprevention of hamster buccal pouch carcinogenesis by bovine milk lactoferrin and black tea polyphenols.

    PubMed

    Mohan, K V P Chandra; Letchoumy, P Vidjaya; Hara, Y; Nagini, S

    2008-03-01

    Combination chemoprevention is a promising approach for oral cancer prevention. The authors evaluated the combined chemopreventive effects of bovine milk lactoferrin (bLF) and black tea polyphenols (Polyphenon-B) in a clinically relevant in vivo model of 7,12-dimethylbenz[a]anthracene (DMBA)-induced hamster buccal pouch (HBP) carcinogenesis. Although dietary administration of bLF and Polyphenon-B alone significantly reduced the tumor incidence, combined administration of bLF and polyphenon-B was more effective in inhibiting DMBA-induced genotoxicity and development of HBP carcinomas by modulation of carcinogen-metabolizing enzymes and cellular redox status. These results suggest that a "designer item" approach will be useful for human oral cancer prevention strategies.

  19. Ultrasonography of wallaby prenatal development shows that the climb to the pouch begins in utero.

    PubMed

    Drews, Barbara; Roellig, Kathleen; Menzies, Brandon R; Shaw, Geoff; Buentjen, Ina; Herbert, Catherine A; Hildebrandt, Thomas B; Renfree, Marilyn B

    2013-01-01

    Marsupials have a functional placenta for a shorter period of time compared to that of eutherian species, and their altricial young reach the teats without any help from the mother. We have monitored the short intrauterine development of one marsupial, the tammar wallaby, with high-resolution ultrasound from reactivation of the 100-cell diapausing blastocyst to birth. The expanding blastocyst could be visualized when it had reached a diameter of 1.5 mm. From at least halfway through pregnancy, there are strong undulating movements of the endometrium that massage the expanding vesicle against the highly secretory endometrial surface. These unique movements possibly enhance exchange of uterine secretions and gases between the mother and embryo. There was a constant rate of development measured ultrasonographically from mid-gestation, regardless of when the blastocyst reactivated. Interestingly climbing movements by the fetus began in utero about 3 days before birth, mimicking those required to climb to the pouch.

  20. Using giant African pouched rats to detect human tuberculosis: a review.

    PubMed

    Poling, Alan; Mahoney, Amanda; Beyene, Negussie; Mgode, Georgies; Weetjens, Bart; Cox, Christophe; Durgin, Amy

    2015-01-01

    Despite its characteristically low sensitivity, sputum smear microscopy remains the standard for diagnosing tuberculosis (TB) in resource-poor countries. In an attempt to develop an alternative or adjunct to microscopy, researchers have recently examined the ability of pouched rats to detect TB-positive human sputum samples and the microbiological variables that affect their detection. Ten published studies, reviewed herein, suggest that the rats are able to detect the specific odor of Mycobacterium tuberculosis, which causes TB, and can substantially increase new-case detections when used for second-line TB screening following microscopy. Further research is needed to ascertain the rats' ability to detect TB in children and in HIV-positive patients, to detect TB when used for first-line screening, and to be useful in broad-scale applications where cost-effectiveness is a major consideration.

  1. [Food protective property of new liquid food container PID (Pouch in Dispenser) for microbes].

    PubMed

    Tominari, Keita; Tanaka, Asato; Shinoda, Yuma; Futase, Katsunori; Nei, Daisuke; Isshiki, Kenji

    2011-01-01

    We examined the content protection characteristics of the PID (Pouch in Dispenser) when it was used in the usual manner and when it was polluted artificially. When the PID was used in the usual manner, the nozzle was opened, and experiments were carried out with and without air-blowing. The invasion of bacteria into the PID was not detected. Also, no bacteria were detected in the material poured from the nozzle of the PID. When 3 strains of bacteria suspensions were intentionally smeared on the nozzle of the PID, invasion of bacteria was observed. When the PID was wiped with a dirty cloth, no invasion of bacteria into the PID was detected. It may be necessary to label the PID with the instruction that the nozzle should not be touched. The effected of changes in the water activity and pH, and the preservatives used, may also need to be considered, depending on the contents in the PID.

  2. Congenital syphilis: an unusual presentation.

    PubMed

    Dzebolo, N N

    1980-08-01

    Congenital syphilis was discovered in a neonate with the unusual radiographic presentation of unilateral involvement of three bones showing lytic lesions and periostitis. Congenital syphilis should be considered in a newborn infant with these radiographic manifestations, especially when a suggestive history is obtained.

  3. Chronic treatment of female tammar wallabies with deslorelin implants during pouch life: effects on reproductive maturation.

    PubMed

    Herbert, C A; Eckery, D C; Trigg, T E; Cooper, D W

    2013-01-01

    The present study reports on attempts to delay puberty in a model marsupial species using the gonadotrophin-releasing hormone (GnRH) agonist deslorelin. Female tammar wallaby pouch young received deslorelin (5 mg) or placebo implants (n=8/group) when they were 193±2 days old. Sexual maturity was significantly delayed in deslorelin-treated animals, with the first successful production of offspring in treated and control animals occurring at 813±62 and 430±42 days of age, respectively. This delay was associated with a period of retarded pouch and teat development. Progesterone concentrations remained at basal levels throughout the first breeding season, indicating the absence of luteal cycles in treated females. Recovery and maturation of the hypothalamic-pituitary axis was a gradual process. Treated animals failed to respond to GnRH challenge at 12 months of age and had a reduced LH response at 18 months of age, before attaining full responsiveness by 24 months of age. Despite this apparent pituitary recovery by 24 months of age, as evidenced by complete teat eversion and LH responsiveness to GnRH, the time to first parturition was significantly delayed beyond this time in three females. This suggests that there may be longer-lasting effects at the level of the ovary and/or on FSH secretion. The significant delay in the onset of sexual maturation in response to chronic GnRH agonist treatment in this model marsupial species may be of practical significance to the management of fertility in captive and semi-free range marsupial populations.

  4. ASSESSMENT OF THE GASTRO-JEJUNO-DUODENAL TRANSIT AFTER JEJUNAL POUCH INTERPOSITION

    PubMed Central

    da SILVA, Alcino Lázaro; GOMES, Célio Geraldo de Oliveira

    2015-01-01

    Background : The jejunal pouch interposition between the gastric body and the duodenum after the gastrectomy, although not frequent in the surgical practice today, has been successfully employed for the prevention and treatment of the postgastrectomy syndromes. In the latter, it is included the dumping syndrome, which affects 13-58% of the patients who undergo gastrectomy. Aim : Retrospective assessment of the results of this procedure for the prevention of the dumping syndrome. Methods : Fourty patients were selected and treatetd surgically for peptic ulcer, between 1965 and 1970. Of these, 29 underwent vagotomy, antrectomy, gastrojejunalduodenostomy at the lesser curvature level, and the 11 remaining were submitted to vagotomy, antrectomy, gastrojejunal-duodenostomy at the greater curvature level. The gastro-jejuno-duodenal transit was assessed in the immediate or late postoperative with the contrasted study of the esophagus, stomach and duodenum. The clinical evolution was assessed according to the Visick grade. Results : Of the 40 patients, 28 were followed with the contrast evaluation in the late postoperative. Among those who were followed until the first month (n=22), 20 (90%) had slow gastro-jejuno-duodenal transit and in two (10%) the transit was normal. Among those who were followed after the first month (n=16), three (19%) and 13 (81%) had slow and normal gastric emptying, respectively. None had the contrasted exam compatible with the dumping syndrome. Among the 40 patients, 22 underwent postoperative clinical evaluation. Of these, 19 (86,5%) had excellent and good results (Visick 1 and 2, respectively). Conclusions : The jejunal pouch interposition showed to be a very effective surgical procedure for the prevention of the dumping syndrome in gastrectomized patients. PMID:26734789

  5. Cross-fostering of the tammar wallaby (Macropus eugenii) pouch young accelerates fore-stomach maturation.

    PubMed

    Kwek, Joly H L; Iongh, Robbert De; Digby, Matthew R; Renfree, Marilyn B; Nicholas, Kevin R; Familari, Mary

    2009-01-01

    There are two phases of fore-stomach development during the first 200 days of pouch life in tammar wallaby. For the first 170 days, the mucosa displays an immature gastric glandular phenotype that changes to a cardia glandular phenotype, which remains for the rest of the animal's life. During this 200-day period after birth, the pouch young (PY) is dependent on maternal milk, which progressively changes in composition. We showed previously that PY cross-fostered to host mothers at a later stage of lactation accelerated development. In this study, we investigated whether cross-fostering and exposure to late lactation stage milk affected the transition to cardia glandular phenotype. In fostered PY fore-stomach, there was increased apoptosis, but no change in cell proliferation. The parietal cell population was significantly reduced, and expression of gastric glandular phenotype marker genes (ATP4A, GKN2, GHRL and NDRG2) was down-regulated, suggesting down-regulation of gastric phenotype in fostered PY fore-stomach. The expression of cardia glandular phenotype genes (MUC4, KRT20, CSTB, ITLN2 and LPLUNC1) was not changed in fostered PY. These data suggest that fore-stomach maturation proceeds via two temporally distinct processes: down-regulation of gastric glandular phenotype and initiation of cardia glandular phenotype. In fostered PY, these two processes appear uncoupled, as gastric glandular phenotype was down-regulated but cardia glandular phenotype was not initiated. We propose that milk from later stages of lactation and/or herbage consumed by the PY may play independent roles in regulating these two processes.

  6. Cataracts in Congenital Toxoplasmosis

    PubMed Central

    Arun, Veena; Noble, A. Gwendolyn; Latkany, Paul; Troia, Robert N.; Jalbrzikowski, Jessica; Kasza, Kristen; Karrison, Ted; Cezar, Simone; Sautter, Mari; Greenwald, Mark J.; Mieler, William; Mets, Marilyn B.; Alam, Ambereen; Boyer, Kenneth; Swisher, Charles N.; Roizen, Nancy; Rabiah, Peter; Del Monte, Monte A.; McLeod, Rima

    2008-01-01

    Purpose To determine the incidence and natural history of cataracts in children with congenital toxoplasmosis. Methods Children referred to the National Collaborative Chicago-based Congenital Toxoplasmosis Study (NCCCTS) between 1981 and 2005 were examined by ophthalmologists at predetermined times according to a specific protocol. The clinical course and treatment of patients who developed cataracts was reviewed. Results In the first year of life, 134 of 173 children examined were treated with pyrimethamine, sulfadiazine, and Leucovorin, while the remaining 39 were not treated. Cataracts occurred in 27 eyes of 20 patients (11.6%, 95% confidence interval [7.2%, 17.3%]). Fourteen cataracts were present at birth, and 13 developed postnatally. Locations of the cataracts included anterior polar (3 eyes), anterior subcapsular (6), nuclear (5), posterior subcapsular (7), and unknown (6). Thirteen cataracts were partial, 9 total, and 5 with unknown complexity. Twelve cataracts remained stable, 12 progressed, and progression was not known for 3. Five of 27 eyes had cataract surgery, with 2 of these developing glaucoma. Sixteen eyes of 11 patients had retinal detachment and cataract. All eyes with cataracts had additional ocular lesions. Conclusions In the NCCCTS cohort, 11.6% of patients were diagnosed with cataracts. There was considerable variability in the presentation, morphology, and progression of the cataracts. Associated intraocular pathology was an important cause of morbidity. PMID:18086432

  7. [Congenital defects and incapacity].

    PubMed

    Jouve de la Barreda, Nicolás

    2009-01-01

    As a whole the congenital defects constitute an important section of the medical attention affecting near 3% of the population. A 15% of spontaneous abortions take place of which the greater frequency corresponds to the chromosome anomalies (25%) and the monogenic mutations (20%) and in a lesser extent to the effects of teratogenic agents. Between the genetic causes determining the congenital defects the mutations that affect genes acting in the early stages of development occupy a main place. These alterations can affect to homeotic genes or monogenic systems that act during the critical phases of the organogenesis. It seems evident that an alteration in the expression of a necessary gene for the appearance of a morphogenetic change constitutes the angular stone to understand resurging of a malformation or discapacity. In the last years has been demonstrated the importance of the teratogenic or environmental agents on the delicate internal physiological balance during the critical stages of the development. In this context must be included the inductive environmental factors inducing epigenetic modifications in the early stage of the development of the embryos produced by fertilization in vitro.

  8. [Genetics of congenital deafness].

    PubMed

    Faundes, Víctor; Pardo, Rosa Andrea; Castillo Taucher, Silvia

    2012-10-20

    Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. It is the most prevalent sensor neural disorder in developed countries, and its incidence is estimated between 1-3 children per 1,000 newborns, of which more than 50% are attributable to genetics causes. Deafness can be classified as syndromic or non-syndromic. In the first case, it is associated with outer ear malformations and/or systemic findings. More than 400 syndromes accompanied of deafness have been described, which represent about 30% of cases of congenital hearing loss. The remaining percentage corresponds to non-syndromic cases: 75-85% are autosomal recessive, 15-24% are autosomal dominant, and 1-2% are X-linked. The evaluation of a child with deafness requires a multidisciplinary collaboration among specialists, who must coordinate themselves and give information to the affected family. The aims of establishing a diagnosis are to predict other manifestations that may suggest some syndrome and to anticipate their management, as well as to perform genetic counseling to parents and affected individuals.

  9. Colon cancer screening

    MedlinePlus

    Screening for colon cancer; Colonoscopy - screening; Sigmoidoscopy - screening; Virtual colonoscopy - screening; Fecal immunochemical test; Stool DNA test; sDNA test; Colorectal cancer - screening; Rectal ...

  10. Congenital stationary night blindness presenting as Leber's congenital amaurosis.

    PubMed

    Weleber, R G; Tongue, A C

    1987-03-01

    Two siblings with autosomal-recessive congenital stationary night blindness were clinically blind in infancy. Both had markedly abnormal electroretinograms that, in the first child, led consultants at two university centers to make the diagnosis of Leber's congenital amaurosis. The patients had intermittent nystagmus and esotropia, but good photopic vision developed eventually. Scotopic vision was clearly defective in each child. Refractive error in both patients was close to emetropic in early infancy but became myopic by 1 year of age. Congenital stationary night blindness must be considered in the differential diagnosis of the blind infant.

  11. Complete tubular duplication of colon in an adult: a rare cause of colovaginal fistula

    PubMed Central

    Jung, Hae Il; Lee, Hyoung Uk; Ahn, Tae Sung; Lee, Jong Eun; Lee, Hyun Yong; Mun, Seong Taek; Baek, Moo-Jun

    2016-01-01

    Alimentary tract duplications are uncommon congenital anomalies that usually present during the first decade of life. Complete duplication of the colon in adults is very rare and difficult to diagnose preoperatively. We report a case of a 40-year-old female with complete tubular duplication which was initially misdiagnosed as a salpingeal abscess due to colovaginal fistula. PMID:27757399

  12. Congenital Giant Hydroureteric Cistern in a Duplex System of an Infant

    PubMed Central

    Awolaran, O. T.; Abdur-Rahman, L. O.; Bamigbola, K. T.; Adesiyun, O. M.; Nasir, A. A.

    2013-01-01

    Duplex collecting system is a congenital genitourinary anomaly commonly found incidentally. Our experience with a duplex system associated with giant hydroureter presenting as mobile abdominal swelling that was noticed from birth, constipation, and failure to thrive is described. Ultrasound and IVU did not assist in making the diagnosis, while a barium enema suggested a colonic duplication. Congenital giant hydroureter should be considered as a differential diagnosis in infants with cystic abdominal swelling. A preserved renal moiety attributed to a dilated ureteric cistern was a unique theory in this case. PMID:24171132

  13. CT findings of colonic complications associated with colon cancer.

    PubMed

    Kim, Sang Won; Shin, Hyeong Cheol; Kim, Il Young; Kim, Young Tong; Kim, Chang-Jin

    2010-01-01

    A broad spectrum of colonic complications can occur in patients with colon cancer. Clinically, some of these complications can obscure the presence of underlying malignancies in the colon and these complications may require emergency surgical management. The complications of the colon that can be associated with colon cancer include obstruction, perforation, abscess formation, acute appendicitis, ischemic colitis and intussusception. Although the majority of these complications only rarely occur, familiarity with the various manifestations of colon cancer complications will facilitate making an accurate diagnosis and administering prompt management in these situations. The purpose of this pictorial essay is to review the CT appearance of the colonic complications associated with colon cancer.

  14. Idiopathic Neonatal Colonic Perforation

    PubMed Central

    Tuncer, Oğuz; Melek, Mehmet; Kaba, Sultan; Bulan, Keziban; Peker, Erdal

    2014-01-01

    Though the perforation of the colon in neonates is rare, it is associated with more than 50% mortality in high-risk patients. We report a case of idiopathic neonatal perforation of the sigmoid colon in an 8-day-old, healthy, male neonate without any demonstrable cause. PMID:26023477

  15. Early stage colon cancer.

    PubMed

    Freeman, Hugh James

    2013-12-14

    Evidence has now accumulated that colonoscopy and removal of polyps, especially during screening and surveillance programs, is effective in overall risk reduction for colon cancer. After resection of malignant pedunculated colon polyps or early stage colon cancers, long-term repeated surveillance programs can also lead to detection and removal of asymptomatic high risk advanced adenomas and new early stage metachronous cancers. Early stage colon cancer can be defined as disease that appears to have been completely resected with no subsequent evidence of involvement of adjacent organs, lymph nodes or distant sites. This differs from the clinical setting of an apparent "curative" resection later pathologically upstaged following detection of malignant cells extending into adjacent organs, peritoneum, lymph nodes or other distant sites, including liver. This highly selected early stage colon cancer group remains at high risk for subsequent colon polyps and metachronous colon cancer. Precise staging is important, not only for assessing the need for adjuvant chemotherapy, but also for patient selection for continued surveillance. With advanced stages of colon cancer and a more guarded outlook, repeated surveillance should be limited. In future, novel imaging technologies (e.g., confocal endomicroscopy), coupled with increased pathological recognition of high risk markers for lymph node involvement (e.g., "tumor budding") should lead to improved staging and clinical care.

  16. Congenital mirror movements.

    PubMed Central

    Schott, G D; Wyke, M A

    1981-01-01

    In this report are described seven patients assessed clinically and neuropsychologically in whom mirror movements affecting predominantly the hands occurred as a congenital disorder. These mirror movements, representing a specific type of abnormal synkinesia, may arise as a hereditary condition, in the presence of a recognisable underlying neurological abnormality, and sporadically, and the seven patients provide more or less satisfactory examples of each of these three groups. Despite the apparent uniformity of the disorder, the heterogeneity and variability may be marked, examples in some of our patients including the pronounced increase in tone that developed with arm movement, and the capacity for modulation of the associated movement by alteration of neck position and bio-feedback. Various possible mechanisms are considered; these include impaired cerebral inhibition of unwanted movements, and functioning of abnormal motor pathways. Emphasis has been placed on the putative role of the direct, crossed corticomotoneurone pathways and on the unilateral and bilateral cerebral events that precede movement. PMID:7288446

  17. Congenital sensorineural hearing loss

    SciTech Connect

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-02-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

  18. Congenital adrenal hyperplasia.

    PubMed

    Merke, Deborah P; Bornstein, Stefan R

    Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Patients with the most severe form also have abnormalities of the adrenal medulla and epinephrine deficiency. The severe classic form occurs in one in 15,000 births worldwide, and the mild non-classic form is a common cause of hyperandrogenism. Neonatal screening for CAH and gene-specific prenatal diagnosis are now possible. Standard hormone replacement fails to achieve normal growth and development for many children with CAH, and adults can experience iatrogenic Cushing's syndrome, hyperandrogenism, infertility, or the development of the metabolic syndrome. This Seminar reviews the epidemiology, genetics, pathophysiology, diagnosis, and management of CAH, and provides an overview of clinical challenges and future therapies.

  19. Understanding your colon cancer risk

    MedlinePlus

    Colon cancer - prevention; Colon cancer - screening ... We do not know what causes colon cancer, but we do know some of the things that may increase the risk of getting it, such as: Age. Your risk increases after ...

  20. A First Look at the Structure of the Wave Pouch during the 2009 PREDICT-GRIP Dry Runs over the Atlantic

    DTIC Science & Technology

    2012-04-01

    importance of a Lagrangian recirculation region within a tropical-wave critical layer (the so-called pouch), where persistent deep convection and...emphasizes the importance of a Lagrangian recirculation region within a tropical-wave critical layer (the so-called pouch) where persistent deep convection...for Medium-Range Weather Forecasts (ECMWF) Re-Analysis (ERA-40) data and the satellite brightness temperature between 1979 and 2001, Hopsch et al. (2010

  1. Congenital heart defects and medical imaging.

    PubMed

    Gehin, Connie; Ragsdale, Lisa

    2013-01-01

    Radiologic technologists perform imaging studies that are useful in the diagnosis of congenital heart defects in infants and adults. These studies also help to monitor congenital heart defect repairs in adults. This article describes the development and functional anatomy of the heart, along with the epidemiology and anatomy of congenital heart defects. It also discusses the increasing population of adults who have congenital heart defects and the most effective modalities for diagnosing, evaluating, and monitoring congenital heart defects.

  2. Optimization of process conditions for Rohu fish in curry medium in retortable pouches using instrumental and sensory characteristics.

    PubMed

    Majumdar, Ranendra K; Dhar, Bahni; Roy, Deepayan; Saha, Apurba

    2015-09-01

    'Kalia', a popular preparation of Rohu fish, packed in four-layered laminated retort pouch was processed in a steam/air mixture over-pressure retort at 121.1 °C to three different F 0 values of 7, 8 and 9 min. Time-temperature data were collected during heat processing using an Ellab Sterilization Monitoring System. Texture profile such as hardness, springiness, gumminess and chewiness decreased as the F 0 value increased. The L* values decreased whereas a* and b* values increased with increasing F 0 value. Based on the commercial sterility, sensory evaluation, colour and texture profile analysis, F 0 value of 8 min and cook value of 66 min, with a total process time of 41.7 min at 121.1 °C was found satisfactory for the preparation of Rohu fish curry (Kalia) in retort pouches.

  3. Neuropeptide Y (NPY) modulates oxidative burst and nitric oxide production in carrageenan-elicited granulocytes from rat air pouch.

    PubMed

    Dimitrijević, Mirjana; Stanojević, Stanislava; Mićić, Stana; Vujić, Vesna; Kovacević-Jovanović, Vesna; Mitić, Katarina; von Hörsten, Stephan; Kosec, Dusko

    2006-12-01

    We studied the effects of neuropeptide Y (NPY) and NPY-related receptor specific peptides on functions of carrageenan-elicited granulocytes in vitro and ability of NPY to modulate carrageenan-induced air pouch inflammation in rats in vivo. Anti-inflammatory effect of NPY comprises reduced granulocyte accumulation into the air pouch, to some extent attenuation of phagocytosis, attained via Y1 receptor, and considerable decrease in peroxide production, albeit mediated via Y2 and Y5 receptors activation. Conversely, NPY increases nitric oxide production and this potentiation is mediated via Y1 receptor. It is concluded that NPY Y1 and Y2/Y5 receptors' interaction participates in NPY-induced modulation of granulocyte functions related to inflammation.

  4. Detection of vesicant-induced upper airway mucosa damage in the hamster cheek pouch model using optical coherence tomography

    NASA Astrophysics Data System (ADS)

    Hammer-Wilson, Marie J.; Nguyen, Vi; Jung, Woong-Gyu; Ahn, Yehchen; Chen, Zhongping; Wilder-Smith, Petra

    2010-01-01

    Hamster cheek pouches were exposed to 2-chloroethyl ethyl sulfide [CEES, half-mustard gas (HMG)] at a concentration of 0.4, 2.0, or 5.0 mg/ml for 1 or 5 min. Twenty-four hours post-HMG exposure, tissue damage was assessed by both stereomicrography and optical coherence tomography (OCT). Damage that was not visible on gross visual examination was apparent in the OCT images. Tissue changes were found to be dependent on both HMG concentration and exposure time. The submucosal and muscle layers of the cheek pouch tissue showed the greatest amount of structural alteration. Routine light microscope histology was performed to confirm the OCT observations.

  5. The surgical technique of the Fobi-Pouch operation for obesity (the transected silastic vertical gastric bypass).

    PubMed

    Fobi, M A; Lee, H

    1998-06-01

    The Fobi-Pouch operation (FPO) for obesity is the product of clinical trials, more than 15 years of personal clinical experience and information gathered from publications, scientific meetings, and personal communications with other bariatric surgeons. The essence of the operation is the small vertical pouch (< 25 ml), an externally supported stoma, the interposed Roux-en-Y limb, the gastrostomy and the bypassed stomach marker to facilitate percutaneous transabdominal access to the bypassed segment. Patients undergoing this operation are usually given bowel prep the day before the operation, admitted the morning of the operation and started on subcutaneous heparin, prophylactic antibiotic and hydration. Antithrombotic sequential compression devices are regularly used. The hospital stay is usually 4 days. Our results and those of other surgeons who have used this modification substantiate the rationale for the modifications entailed in the FPO. Our longer-term experience and results are being compiled for publication.

  6. Use of the air pouch model to investigate immune responses to a hookworm vaccine containing the Na-ASP-2 protein in rats.

    PubMed

    Mendez, S; D' Samuel, A; Antoine, A D; Ahn, S; Hotez, P

    2008-01-01

    Hookworms are gastrointestinal nematodes that affect approximately 600 million people in developing countries. Using the air pouch model, we have examined the effects of vaccination with the recombinant hookworm larval antigen Na-ASP-2 and the adjuvant Alhydrogel on the skin immune response to hookworms in Sprague Dawley rats. Following vaccination, rats were inoculated 100 Necator americanus L3 into the air pouch, and the exudates and cell infiltrates were collected from the pouch 24 h later. Larval inoculation induced leucocyte recruitment into the pouch. Exudates of rats vaccinated with Na-ASP-2 showed an increase of cytokines such as IL-4, IL-10, IFN-gamma and especially, IL-5, as well as IgG1 and IgG2 antibodies. The increased amount of antigen-presenting cells and cytokines in the pouch of vaccinated animals suggests that vaccination could potentially restrain this parasite to the inoculation site, avoiding its migration and establishment in the host. Moreover, the air pouch model could constitute an alternative to screen immune responses to L3 antigens.

  7. Colonic casts: unexpected complications of colonic ischaemia.

    PubMed

    Mantas, D; Damaskos, C; Bamias, G; Dimitroulis, D

    2016-09-01

    Introduction Extensive colonic ischaemia can result in passage of a colonic 'cast' (CC) through the rectum. Case Study We report a 69-year-old male who initially underwent surgery to remove a sessile polyp. On postoperative day (POD)15, he was febrile, suffering from diarrhoea, and was treated conservatively. On POD18, the patient returned to our hospital with a CC that presented after defaecation. Computed tomography of the abdomen revealed a CC extending from the descending colon to the anal orifice with presentation of air between the affected colonic wall and the CC. The patient was treated conservatively and discharged on POD20 without complications having passed the CC (≈80cm) completely and becoming afebrile. Conclusions In most cases, the cause of CC passage is surgery for colorectal cancer or repair of an abdominal aortic aneurysm. A mild-to-severe presentation is dependent upon the bowel-wall layers affected by ischaemia and which therefore are included in the CC.

  8. Congenital Hypothyroidism: Facts, Facets & Therapy.

    PubMed

    Kollati, Yedukondalu; Ambati, Ranga Rao; Reddy, Prakash Narayana; Kumar, N Satya Sampath; Patel, Rajesh K; Dirisala, Vijaya R

    2017-02-06

    Back ground: Thyroid hormone (T3) is essential for normal development of children enabling brain development and somatic growth. However, certain individuals are genetically predisposed with insufficient or no thyroid hormones. Such a condition is termed congenital hypothyroidism (CH).

  9. Photoaversion in Leber's congenital amaurosis.

    PubMed

    Traboulsi, E I; Maumenee, I H

    1995-03-01

    Photoaversion is a prominent symptom of a number of infantile genetic ocular disorder such as congenital glaucoma, aniridia, albinism, and cone dystrophies including achromatopsia. Photoaversion has not been widely recognized as a clinical feature of Leber's congenital amaurosis. We present two patients who were diagnosed clinically with achromatopsia because of nystagmus, absent color vision, reduced visual acuity, and moderately severe photoaversion in the absence of anterior segment abnormalities. The photopic and scotopic responses of the electroretinogram (E R G) were nonrecordable in both patients indicating involvement of both cone and rod systems. The diagnosis was then revised to one of Leber's congenital amaurosis. Photoaversion can be a prominent clinical feature in some patients with Leber's congenital amaurosis. The E R G clinches the diagnosis. These patients may constitute a distinct genetic subtype of the disease and molecular genetic studies will help resolve this issue.

  10. Why Search for Congenital Defects?

    PubMed Central

    Collins, John F.

    1966-01-01

    The causation of congenital malformation is receiving increased study. In Canada, epidemiologic surveys are being planned, based upon the institution of Provincial Registries to which physicians and other agencies will voluntarily report cases coming to their attention. The literature in regard to prevalence studies of congenital cardiac defects in school children is reviewed. Over the past 25 years, studies employing the proposed technique demonstrated a rising trend, from 1.4 per 1000 to 2.6 per 1000. By contrast, specific surveys for congenital cardiac defect carried out by expert personnel using radiographs and electrocardiographs, resulted in essentially uniform rates, approximating 5 to 6 per 1000. It is concluded that the latter is a superior technique of epidemiologic survey over the “Central Registry” method, and should command a due proportion of health resources directed towards congenital malformation research. PMID:5914837

  11. Congenital Syngnathia; Turmoils and Tragedy

    PubMed Central

    Sarin, Yogesh Kumar; Raj, Prince; Arya, Mona; Dali, Jaspal Singh

    2017-01-01

    Congenital syngnathia is an extremely rare condition with no standardized treatment. We hereby report a case highlighting the difficulties faced in its management and the postoperative complications. PMID:28083498

  12. Postpartum complications in a patient with a previous proctocolectomy and ileo-pouch-anal anastomosis (IPAA) for ulcerative colitis.

    PubMed

    Spina, Vincenzo; Giovannini, Massimo; Fabiani, Cristina; Vetrano, Giuseppe; Bagolan, Pietro; Colizza, Sergio; Aleandri, Vincenzo

    2012-04-01

    This case report regards pregnancy and delivery of a patient who had undergone proctocolectomy and ileo-pouch-anal-anastomosis (IPAA) for ulcerative colitis. The patient delivered through cesarean section and experienced serious complications postpartum. Such complications have been described in association with Chron's disease and have never been described after proctocolectomy and IPAA for ulcerative colitis. This case report suggests that the limit between these two diseases is not sharp.

  13. Further Assessment of Monkeypox Virus Infection in Gambian Pouched Rats (Cricetomys gambianus) Using In Vivo Bioluminescent Imaging

    PubMed Central

    Falendysz, Elizabeth A.; Lopera, Juan G.; Lorenzsonn, Faye; Salzer, Johanna S.; Hutson, Christina L.; Doty, Jeffrey; Gallardo-Romero, Nadia; Carroll, Darin S.; Osorio, Jorge E.; Rocke, Tonie E.

    2015-01-01

    Monkeypox is a zoonosis clinically similar to smallpox in humans. Recent evidence has shown a potential risk of increased incidence in central Africa. Despite attempts to isolate the virus from wild rodents and other small mammals, no reservoir host has been identified. In 2003, Monkeypox virus (MPXV) was accidentally introduced into the U.S. via the pet trade and was associated with the Gambian pouched rat (Cricetomys gambianus). Therefore, we investigated the potential reservoir competence of the Gambian pouched rat for MPXV by utilizing a combination of in vivo and in vitro methods. We inoculated three animals by the intradermal route and three animals by the intranasal route, with one mock-infected control for each route. Bioluminescent imaging (BLI) was used to track replicating virus in infected animals and virological assays (e.g. real time PCR, cell culture) were used to determine viral load in blood, urine, ocular, nasal, oral, and rectal swabs. Intradermal inoculation resulted in clinical signs of monkeypox infection in two of three animals. One severely ill animal was euthanized and the other affected animal recovered. In contrast, intranasal inoculation resulted in subclinical infection in all three animals. All animals, regardless of apparent or inapparent infection, shed virus in oral and nasal secretions. Additionally, BLI identified viral replication in the skin without grossly visible lesions. These results suggest that Gambian pouched rats may play an important role in transmission of the virus to humans, as they are hunted for consumption and it is possible for MPXV-infected pouched rats to shed infectious virus without displaying overt clinical signs. PMID:26517839

  14. Topical photosan-mediated photodynamic therapy for DMBA-induced hamster buccal pouch premaligant lesions: an in vivo study

    NASA Astrophysics Data System (ADS)

    Hsu, Yih-Chih; Chiang, Chun-Pin; Chen, Jian Wen; Chen, Ying-Ru; Lee, Jeng-Woei

    2010-02-01

    One of the best strategies to prevent the occurrence of oral cancer is to eliminate oral precancers and block their further malignant transformation. Previous studies showed that photosan-mediated photodynamic therapy (photosan-PDT) is very effective for human head and neck cancers. To avoid the systemic photodynamic toxicity of photosan, this study was designed to use a topical photosan-PDT for treatment of DMBA-induced hamster buccal pouch precancerous lesions. Twelve 10-week-old male Syrian golden hamsters were used in this study. DMBA was applied to the left buccal pouches thrice a week for 8 to 10 weeks and mineral oil was painted on the right buccal pouches thrice a week for 8 to 10 weeks as the normal controls. Six hamsters were euthanized for tissue harvest. Precancerous lesions of moderate to severe dysplasia were consistently induced and proven by histological examination. These induced precancerous lesions in the remaining 6 hamsters were used for testing the efficacy of topical photosan-PDT. Before PDT, fluorescence spectroscopy was used to determine when protoporphyrine IX (PpIX) reached its peak level in the lesional epithelial cells after topical application of photosan-gel. We found that PpIX reached its peak level in precancerous lesions about 13.5 min after topical application of photosan-gel. The precancerous lesions in 4 hamsters were treated with topical photosan-PDT using the 635-nm LED light once or twice a week. Complete regression of the precancerous lesions was found after 2-4 PDT treatments by visual and histological examination. Our findings indicate that topical photosan-PDT is a very effective treatment modality for DMBA-induced hamster buccal pouch precancerous lesions.

  15. Further assessment of Monkeypox Virus infection in Gambian pouched rats (Cricetomys gambianus) using in vivo bioluminescent imaging

    USGS Publications Warehouse

    Falendysz, Elizabeth; Lopera, Juan G.; Faye Lorenzsonn,; Salzer, Johanna S.; Hutson, Christina L.; Doty, Jeffrey; Gallardo-Romero, Nadia; Carroll, Darin S.; Osorio, Jorge E.; Rocke, Tonie E.

    2015-01-01

    Monkeypox is a zoonosis clinically similar to smallpox in humans. Recent evidence has shown a potential risk of increased incidence in central Africa. Despite attempts to isolate the virus from wild rodents and other small mammals, no reservoir host has been identified. In 2003,Monkeypox virus (MPXV) was accidentally introduced into the U.S. via the pet trade and was associated with the Gambian pouched rat (Cricetomys gambianus). Therefore, we investigated the potential reservoir competence of the Gambian pouched rat for MPXV by utilizing a combination of in vivo and in vitro methods. We inoculated three animals by the intradermal route and three animals by the intranasal route, with one mock-infected control for each route. Bioluminescent imaging (BLI) was used to track replicating virus in infected animals and virological assays (e.g. real time PCR, cell culture) were used to determine viral load in blood, urine, ocular, nasal, oral, and rectal swabs. Intradermal inoculation resulted in clinical signs of monkeypox infection in two of three animals. One severely ill animal was euthanized and the other affected animal recovered. In contrast, intranasal inoculation resulted in subclinical infection in all three animals. All animals, regardless of apparent or inapparent infection, shed virus in oral and nasal secretions. Additionally, BLI identified viral replication in the skin without grossly visible lesions. These results suggest that Gambian pouched rats may play an important role in transmission of the virus to humans, as they are hunted for consumption and it is possible for MPXV-infected pouched rats to shed infectious virus without displaying overt clinical signs.

  16. [Congenital Adrenal Hyperplasia in Adults].

    PubMed

    Vrbíková, Jana

    2016-01-01

    Congenital adrenal hyperplasia is a life-long disease requiring an integrated therapy. It may negatively influence the quality of life. In childhood, the main problems of the care of these patients involve sex determination and ensuring optimum growth and puberty. The therapeutic goals for adults are the prevention of Addisonian crisis and ensuring the best possible quality of life, including fertility.Key words: androgens - cardiovascular risk - congenital adrenal hyperplasia - bone density - testicular rest tumors.

  17. Congenital abnormalities and selective abortion.

    PubMed

    Seller, M J

    1976-09-01

    The technique of amniocentesis, by which an abnormal fetus can be detected in utero, has brought a technological advance in medical science but attendant medical and moral problems. Dr Seller describes those congenital disabilities which can be detected in the fetus before birth, for which the "remedy" is selective abortion. She then discusses the arguments for and against selective abortion, for the issue is not simple, even in the strictly genetic sense of attempting to ensure a population free of congenital abnormality.

  18. Immunotherapy of Congenital SIV Infection.

    DTIC Science & Technology

    1996-10-01

    TITLE: Immunotherapy of Congenital SIV Infection PRINCIPAL INVESTIGATOR: Ruth M. Ruprecht, M.D., Ph.D. CONTRACTING ORGANIZATION: Dana-Farber Cancer...SUBTITLE Immunotherapy of Congenital SIV 5. FUNDING NUMBERS Infection DAMD17-94-J-4431 6. AUTHOR(S) Ruth M. Ruprecht. M.D-. Ph.D 7. PERFORMING...period of several weeks, this strategy was adopted to avoid potential bias because of season or other factors. Because the staff at the Yerkes Regional

  19. Anti-Inflammatory Activity of the Essential Oil Citral in Experimental Infection with Staphylococcus aureus in a Model Air Pouch

    PubMed Central

    Martins, Hellen Braga; Selis, Nathan das Neves; Souza, Clarissa Leal Silva e; Nascimento, Flávia S.; de Carvalho, Suzi Pacheco; Gusmão, Lorena D'Oliveira; Nascimento, Jannine dos Santos; Brito, Anne Karoline Pereira; de Souza, Samira Itana; de Oliveira, Marcio Vasconcelos; Timenetsky, Jorge; Yatsuda, Regiane

    2017-01-01

    This study proposes to implement an alternative and effective strategy for local treatment of disease provoked by S. aureus. For the analysis of possible anti-inflammatory activity of essential oil, after establishing an air pouch model, 48 male mice of Balb/c were treated, infected, and euthanized at 4 and 8 h. Thus, the total and differential white blood cells were counted in the animal's blood, and cytokines IL-1β, IL-6, and TNF-α were titrated using ELISA in the air pouch lavage. Moreover, TNF-α, IL-1β, and IL-6 gene expression was analyzed through an RT-qPCR array, and S. aureus was quantified using qPCR. Our results, p < 0.05, showed that EOC reduced the quantity of microorganisms. The group of mice treated with essential oil citral showed a significant decrease in TNF-α levels in tests demonstrating anti-inflammatory activity. There is no data about the mutual influence of the air pouch model, essential oil citral, and S. aureus. Thus, considering the interaction of these variables and the anti-inflammatory activity of the essential oil citral, we demonstrated, by alternative local treatment, a new antimicrobial agent that is not an antibiotic. PMID:28316634

  20. Development and on-orbit operation of lithium-ion pouch battery for small scientific satellite “REIMEI”

    NASA Astrophysics Data System (ADS)

    Uno, Masatoshi; Ogawa, Keita; Takeda, Yasuo; Sone, Yoshitsugu; Tanaka, Koji; Mita, Makoto; Saito, Hirobumi

    2011-10-01

    A lithium-ion battery was developed using off-the-shelf pouch cells and launched with a small scientific satellite "REIMEI." The cells were potted with polyurethane or epoxy resin to protect the battery from vacuum in space. Preliminary experimental test results of pouch cells potted in a soft aluminum cap suggested that the cells tended to swell in vacuum, although they had been reinforced with the resins. Bread board models (BBMs), in which pouch cells were potted with resins in a hard aluminum case, were fabricated for cycle life performance tests in the laboratory. The test results indicated that the performance of epoxy-potted BBM was superior to that of the polyurethane-potted BBM. The measured cell resistance implied that the electrolyte solution leaked through the polyurethane resin, resulting in premature deterioration. The epoxy resin was used for the flight battery. The end-of-discharge-voltage (EoDV) trend of the flight battery on orbit was compared with the laboratory test results corrected based on a post-launch cycle test using a fresh cell. The corrected EoDV trend in the laboratory was in good agreement with the on-orbit trend for the early cycle period, indicating that the on-orbit battery was not inadvertently affected by conditions in space.

  1. Methanolic Extract of Ficus carica Linn. Leaves Exerts Antiangiogenesis Effects Based on the Rat Air Pouch Model of Inflammation

    PubMed Central

    Eteraf-Oskouei, Tahereh; Allahyari, Saeideh; Akbarzadeh-Atashkhosrow, Arezu; Delazar, Abbas; Pashaii, Mahdiyeh; Gan, Siew Hua; Najafi, Moslem

    2015-01-01

    The antiangiogenesis effect of Ficus carica leaves extract in an air pouch model of inflammation was investigated in rat. Inflammation was induced by injection of carrageenan into pouches. After antioxidant capacity and total phenolic content (TPC) investigations, the extract was administered at 5, 25, and 50 mg/pouch, and then the volume of exudates, the cell number, TNFα, PGE2, and VEGF levels were measured. Angiogenesis of granulation tissues was determined by measuring hemoglobin content. Based on the DPPH assay, the extract had significant antioxidant activity with TPC of 11.70 mg GAE/100 g dry sample. In addition, leukocyte accumulation and volume of exudate were significantly inhibited by the extract. Moreover, it significantly decreased the production of TNFα, PGE2, and VEGF, while angiogenesis was significantly inhibited by all administered doses. Interestingly, attenuation of angiogenesis and inflammatory parameters (except leukocyte accumulation) by the extract was similar to that shown by diclofenac. The extract has anti-inflammatory effects and ameliorated cell influx and exudation to the site of the inflammatory response which may be related to the local inhibition of TNFα, PGE2, and VEGF levels as similarly shown by diclofenac. The antiangiogenesis and anti-VEGF effects of Ficus carica may be correlated with its significant antioxidant potentials. PMID:25977699

  2. Topical photosan-mediated photodynamic therapy for DMBA-induced hamster buccal pouch early cancer lesions: an in vivo study

    NASA Astrophysics Data System (ADS)

    Hsu, Yih-Chih; Chang, Walter Hong-Shong; Chang, Junn-Liang; Liu, Kuang-Ting; Chiang, Chun-Pin; Liu, Chung-Ji; Chen, Chih-Ping

    2011-03-01

    Oral cancer has becomes the most prominent cancer disease in recent years in Taiwan. The reason is the betel nut chewing habit combing with smoking and alcohol-drinking lifestyle of people results in oral cancer becomes the fastest growth incident cancer amongst other major cancer diseases. In previous studies showed that photosan, haematoporphyrin derivative (HPD), has demonstrated effective PDT results on human head and neck disease studies. To avoid the systemic phototoxic effect of photosan, this study was designed to use a topical photosan-mediated PDT for treatment of DMBA-induced hamster buccal pouch cancerous lesions. DMBA was applied to one of the buccal pouches of hamsters thrice a week for 10 to 12 weeks. Cancerous lesions were induced and proven by histological examination. These DMBA-induced cancerous lesions were used for testing the efficacy of topical photosan-mediated PDT. Before PDT, fluorescence spectroscopy was used to determine when photosan reached its peak level in the lesional epithelial cells after topical application of photosan gel. We found that photosan reached its peak level in cancerous lesions about 13.5 min after topical application of photosan gel. The cancerous lesions in hamsters were then treated with topical photosan-mediated PDT (fluence rate: 600 mW/cm2; light exposure dose 200 J/cm2) using the portable Lumacare 635 nm fiber-guided light device. Visual examination demonstrated that topical photosan-mediated PDT was an applicable treatment modality for DMBA-induced hamster buccal pouch cancerous lesions.

  3. Combination therapies in adjuvant with topical ALA-mediated photodynamic therapy for DMBA-induced hamster buccal pouch premalignant lesions

    NASA Astrophysics Data System (ADS)

    Yang, Deng-Fu; Hsu, Yih-Chih

    2012-03-01

    In Taiwan, oral cancer has becomes the fastest growth male cancer disease due to the betel nut chewing habit combing with smoking and alcohol-drinking lifestyle of people. In order to eliminate the systemic phototoxic effect of 5-aminolevulinic acid (ALA), this study was designed to use a topical ALA-mediated PDT for treatment of DMBA-induced hamster buccal pouch precancerous lesions. DMBA was applied to one of the buccal pouches of hamsters thrice a week for 10 to 12 weeks. Cancerous lesions were induced and proven by histological examination. These DMBA-induced cancerous lesions were used for testing the efficacy of topical ALA-mediated PDT. Before PDT, fluorescence spectroscopy was used to determine when ALA reached its peak level in the lesional epithelial cells after topical application of ALA gel. We found that ALA reached its peak level in precancerous lesions about 2.5 hrs after topical application of ALA gel. The cancerous lesions in hamsters were then treated with topical ALA -mediated PDT with light exposure dose of 150 J/cm2 using LED 635 nm fiber-guided light device. Visual examination demonstrated that adjuvant topical ALA -mediated PDT group has shown better therapeutic results in compared to those of non-adjuvant topical ALA-mediated PDT group for DMBA-induced hamster buccal pouch precancerous lesions.

  4. Electrochemical properties of large-sized pouch-type lithium ion batteries with bio-inspired organic cathode materials

    NASA Astrophysics Data System (ADS)

    Yeo, Jae-Seong; Yoo, Eun-Ji; Ha, Sang-Hyeon; Cheong, Dong-Ik; Cho, Sung-Baek

    2016-05-01

    To investigate the feasibility of scaling up bio-inspired organic materials as cathode materials in lithium ion batteries, large-sized pouch cells are successfully prepared via tape casting using lumichrome with an alloxazine structure and aqueous styrene butadiene rubber-carboxymethyl cellulose (SBR-CMC) binders. A battery module with a two-in-series, six-in-parallel (2S6P) configuration is also successfully fabricated and is able to power blue LEDs (850 mW). Lumichrome shows no structural changes during the fabrication processes used to produce the positive electrode. The large-sized pouch cells show two sets of cathodic and anodic peaks with average potentials of 2.58 V and 2.26 V vs. Li/Li+, respectively. The initial discharge capacities are 142 mAh g-1 and 148 mAh g-1 for ethylene carbonate-dimethyl carbonate (EC-DMC) and tetraethylene glycol dimethyl ether (TEGDME) electrolytes, respectively, similar to that of a coin cell (149 mAh g-1). The EC-DMC-injected pouch cells exhibit higher rate performance and cyclability than the TEGDME-injected ones. The TEGDME electrolyte is not suitable for lithium metal anodes because of electrolyte decomposition and subsequent cell swelling.

  5. Lipopolysaccharide-Activated Leukocytes Enhance Thymic Stromal Lymphopoietin Production in a Mouse Air-Pouch-Type Inflammation Model.

    PubMed

    Segawa, Ryosuke; Mizuno, Natsumi; Hatayama, Takahiro; Jiangxu, Dong; Hiratsuka, Masahiro; Endo, Yasuo; Hirasawa, Noriyasu

    2016-08-01

    Thymic stromal lymphopoietin (TSLP) is a key cytokine that exacerbates allergic and fibrotic reactions. Several microbes and virus components have been shown to induce TSLP production, mainly in epithelial cells. TLR4 activators, such as lipopolysaccharide (LPS), induce TSLP production in vivo, although the underlying mechanisms remain unclear. In this study, we investigated the contribution of LPS-activated leukocytes to the production of TSLP in a mouse air-pouch-type inflammation model. LPS induced the production of TSLP in this model but not in the mouse keratinocyte cell line PAM212. Transfer of the infiltrated leukocytes collected from an LPS-injected air pouch to the air pouch of another mouse enhanced TSLP production. Further, the LPS-activated leukocytes produced tumor necrosis factor alpha (TNF-α) and interleukin-1 beta (IL-1β); a deficiency in these cytokines attenuated the LPS-induced production of TSLP. TSLP production was induced by TNF-α and enhanced by IL-1β and LPS in the PAM212 cells. These results demonstrated that TNF-α and IL-1β, which are partly produced by LPS-activated leukocytes, contribute to TSLP production via TLR4 activation in vivo.

  6. Rhythmic motor activity and interlimb co-ordination in the developing pouch young of a wallaby (Macropus eugenii).

    PubMed Central

    Ho, S M

    1997-01-01

    1. The forelimb motor behaviour of developing wallaby was studied. A clock-like alternating movement was reactivated whenever the animal was removed from the pouch. 2. Forelimb stepping frequency increased during the first 3 weeks of development, while the phase relationship remained constant. Forelimb activity could be affected by altering the afferent feedback from the contralateral limb, or an increase in ambient temperature. 3. In vitro experiments were performed using an isolated brainstem-spinal cord preparation from animals up to 6 weeks postnatal. Fictive locomotor activity could be evoked by electrical stimulation or bath-applied NMDA (< 10 microM). 4. Bath-applied strychnine (10-25 microM) and bicuculline (10-50 microM) disrupted the phase relationship between motor pools, while rhythmic motor discharge remained in the absence of these inhibitory pathways. 5. The present findings indicate that the pattern generator that underlies the robust forelimb movement during the first journey to the pouch is retained for different motor functions during in-pouch development. The neural network that underlies such behaviour can be divided into two major components, a rhythm generator within each hemicord, and a pattern co-ordinating pathway which involve both glycinergic and GABAergic interneurones. PMID:9218221

  7. [Congenital heart diseases in women].

    PubMed

    Putotto, Carolina; Unolt, Marta; Caiaro, Angela; Marino, Dario; Massaccesi, Valerio; Marino, Bruno; Digilio, Maria Cristina

    2013-02-01

    Are there gender differences in prevalence, surgical results and long-term survival of patients with congenital heart disease? Available literature data allow us to state what follows. At birth there is a mild but significant prevalence of congenital heart disease in females. The most severe congenital heart diseases are less frequent in girls, but when they are present in females, they are linked to a higher surgical mortality rate, due perhaps to lower weight at birth and to the prevalence of extracardiac malformations and/or of associated genetic syndromes. On the other hand, in adults, surgery for congenital heart disease is at higher risk in males, and so the long-term survival rate is higher in females. Particular psychological attitudes, a higher incidence of pulmonary hypertension, as well as specific problems linked to the reproductive function characterize congenital heart disease in adult women. The knowledge and analysis of these data are essential for a correct management of congenital heart disease in neonates, children and adults.

  8. Heat penetration characteristics and physico-chemical properties of in-pouch processed dairy dessert (kheer).

    PubMed

    Jha, Alok; Patel, A A; Gopal, T K Srinivasa; Ravishankar, C N

    2014-10-01

    Kheer, a traditional milk product of South East Asia, containing cooked rice grains in a creamy sweetened concentrated milk, has no large-scale production due to its poor shelf life. Shelf-life was improved by development of a process based on in-pouch thermal processing employing a rotary retort. Product development included optimization of rice-to-milk solids ratio (0.18-0.52) and total milk solids levels (16-26 %) to simulate the conventional product in taste, appearance and textural attributes. Various Fo values (12.4-14.8) were examined with regard to product quality. While the TBA value tended to increase (0.073-0.081) the reflectance value (35.3-43.4) declined with increasing Fo. The pH of the product (6.04-6.10) showed a slight tendency to increase with Fo. Sensorily, the product was found to be acceptable for a period of 150 days at 37 °C.

  9. Processing and storage of restructured surimi stew product in retortable pouches.

    PubMed

    Hema, K; Shakila, R Jeya; Shanmugam, S A; Jeevithan, E

    2015-03-01

    Restructured surimi gel product was prepared using short nosed white tripod (Triacanthus brevirosterus) with egg white as additive at 1 %. Heat setting was done initially at 45 °C for 30 min followed by heat processing 90 °C for 45 min. Restructured surimi gel in stew was standardized using four most popular recipes available in local cuisine based on the sensory acceptance and the Kerala fish stew was considered best. Restructured surimi gel in Kerala fish stew was then heat processed in 4 ply laminated retort pouch of dimension 150× 200 mm, at 15 psi gauge pressure for varying time duration and the Fo values ranged from 13.10 to 22.58 min. Products examined of their organoleptic and microbial qualities showed those processed with Fo value of 13.10 min was acceptable with excellent eating quality with no fishy flavour and was microbial sterile until the storage period of 6 months.

  10. Dark field optical imaging reveals vascular changes in an inducible hamster cheek pouch model during carcinogenesis

    PubMed Central

    Hu, Fangyao; Morhard, Robert; Murphy, Helen A.; Zhu, Caigang; Ramanujam, Nimmi

    2016-01-01

    In this study, we propose a low-cost cross-polarized dark field microscopy system for in vivo vascular imaging to detect head and neck cancer. A simple-to-use Gabor-filter-based image processing technique was developed to objectively and automatically quantify several important vascular features, including tortuosity, length, diameter and area fraction, from vascular images. Simulations were performed to evaluate the accuracies of vessel segmentation and feature extraction for our algorithm. Sensitivity and specificity for vessel segmentation of the Gabor masks both remained above 80% at all contrast levels when compared to gold-standard masks. Errors for vascular feature extraction were under 5%. Moreover, vascular contrast and vessel diameter were identified to be the two primary factors which affected the segmentation accuracies. After our algorithm was validated, we monitored the blood vessels in an inducible hamster cheek pouch carcinogen model over 17 weeks and quantified vascular features during carcinogenesis. A significant increase in vascular tortuosity and a significant decrease in vessel length were observed during carcinogenesis. PMID:27699096

  11. Whole-genome scan for guttural pouch tympany in Arabian and German warmblood horses.

    PubMed

    Zeitz, A; Spötter, A; Blazyczek, I; Diesterbeck, U; Ohnesorge, B; Deegen, E; Distl, O

    2009-12-01

    Equine guttural pouch tympany (GPT) is a hereditary disease in foals of several breeds, including thoroughbreds, Arabian, Quarter and warmblood horses. We performed a whole-genome scan for GPT in 143 horses from five Arabian and five German warmblood families and genotyped 257 microsatellites. Chromosome-wide significant linkage was detected on ECA2 and ECA15 using multipoint non-parametric linkage analyses. Analyses stratified by sex revealed chromosome-wide significant linkage on ECA2 for fillies and chromosome-wide significant linkage on ECA15 for colts. For Arabian colts, the quantitative trait locus (QTL) on ECA15 was genome-wide significant. Haplotypes including two to four microsatellites within the QTL on ECA2 and 15 in fillies and colts, respectively, were significantly associated with GPT for both breeds. Thus, our analysis indicated sex-specific QTL, a fact which is in agreement with a two- to fourfold higher incidence of GPT in females. This is the first report of QTL for equine GPT and a first step towards identifying genes responsible for GPT.

  12. Noncontact point spectroscopy guided by two-channel fluorescence imaging in a hamster cheek pouch model

    NASA Astrophysics Data System (ADS)

    Yang, Victor X.; Yeow, Jenny; Lilge, Lothar D.; Kost, James; Mang, Thomas S.; Wilson, Brian C.

    1999-07-01

    A system for in vivo, fluorescence image-guided, non-contact point fluorescence spectroscopy is presented. A 442 nm HeCd laser is used as the fluorescence excitation source. An intensified CCD serves as the detector for both imaging and spectroscopy, on which two regions of 300 X 300 pixels were used for green (500 +/- 18 nm) and red (630 +/- 18 nm) imaging channels, and a strip of 600 X 120 pixels are used for emission spectroscopy (450 - 750 nm). At a working distance of 40 mm, the system has a spatial resolution of 0.16 mm and a spectral resolution of 5 nm. System performance is demonstrated in a carcinogenesis model in hamsters, where tumors were induced by painting DMBA in the cheek pouch. Autofluorescence and Photofrin-induced fluorescence measurements were performed every 2 weeks during the 18 weeks of tumor induction. Punch biopsies on selected animals were taken for histological staging. The results show that autofluorescence fluorescence can distinguish dysplasia from normal mucosal tissue model, utilizing the peak red intensity (or the red-to-green intensity ratio). Photofrin-induced fluorescence was superior to autofluorescence for differentiating high grade dysplasia from invasive cancer.

  13. Society for Reproductive Biology Founders' Lecture 2006 - life in the pouch: womb with a view.

    PubMed

    Renfree, Marilyn B

    2006-01-01

    Marsupials give birth to an undeveloped altricial young after a relatively short gestation period, but have a long and sophisticated lactation with the young usually developing in a pouch. Their viviparous mode of reproduction trades placentation for lactation, exchanging the umbilical cord for the teat. The special adaptations that marsupials have developed provide us with unique insights into the evolution of all mammalian reproduction. Marsupials hold many mammalian reproductive 'records', for example they have the shortest known gestation but the longest embryonic diapause, the smallest neonate but the longest sperm. They have contributed to our knowledge of many mammalian reproductive events including embryonic diapause and development, birth behaviour, sex determination, sexual differentiation, lactation and seasonal breeding. Because marsupials have been genetically isolated from eutherian mammals for over 125 million years, sequencing of the genome of two marsupial species has made comparative genomic biology an exciting and important new area of investigation. This review will show how the study of marsupials has widened our understanding of mammalian reproduction and development, highlighting some mechanisms that are so fundamental that they are shared by all today's marsupial and eutherian mammals.

  14. The Antarctic holothurian genus Echinopsolus Gutt, 1990 (Dendrochirotida, Cucumariidae): brood pouches, spermatozoa, spermatozeugmata and taxonomic implications.

    PubMed

    Bohn, Jens Michael; Heß, Martin

    2014-07-29

    An examination of seven Antarctic brooding cucumariid and psolid holothurian species revealed a variety of characters all of them have in common: (1) All are gonochoric. (2) A genital papilla is present on the oral disc (permanent and digitiform in males). (3) Females brood their offspring in five anterior interradial brood pouches that are situated at the transition of body to introvert. (4) Multiple spermatozoa are always bundled to bunch-like spermato-zeugmata. (5) The spermatozoa have a fusiform head and a hollow cylinder-like mid-piece encircling the anterior end of the flagellum. This combination of characters so far is unique, and indicates a close relationship based on common origin. As a consequence, we unite all species sharing this set of synapomorphies in the genus Echinopsolus Gutt, 1990. The herewith included species are: E. acanthocola Gutt, 1990, E. acutus (Massin, 1992) comb. nov., E. charcoti (Vaney, 1906) comb. nov., E. koehleri (Vaney, 1914) comb. nov., E. mollis (Ludwig & Heding, 1935) comb. nov., E. parvipes Massin, 1992 and E. splendidus (Gutt, 1990) comb. nov.. Because the current assignment of Echinopsolus to the family Psolidae can not be retained, the genus is tranferred to the family Cucumariidae, as relationships to taxa within this family are obvious. The peculiar spermatozoa and spermato-zeugmata of all Echinopsolus species are described using light- and electron-microscopical techniques and the results are evaluated and discussed concerning their taxonomy and phylogeny. 

  15. Distribution and ecology of lesser pouched rat, Beamys hindei, in Tanzanian coastal forests.

    PubMed

    Sabuni, Christopher A; Sluydts, Vincent; Mulungu, Loth S; Maganga, Samwel L S; Makundi, Rhodes H; Leirs, Herwig

    2015-11-01

    The lesser pouched rat, Beamys hindei, is a small rodent that is patchily distributed in the Eastern Arc Mountains and coastal forests in East Africa. The ecology of this species and its current distribution in coastal forests is not well known. Therefore, we conducted a study in selected coastal forests to assess the current distribution of the species and to investigate the population ecology in terms of abundance fluctuations and demographic patterns. Assessments of the species distribution were conducted in 5 forests through trapping with Sherman live traps. Data on ecology were obtained from monthly capture-mark-recapture studies conducted for 5 consecutive nights per month in two 1 ha grids set in Zaraninge Forest over a 2-year period. The results indicate the presence of B. hindei in 3 forests where it was not previously recorded. The population abundance estimates ranged from 1 to 40 animals per month, with high numbers recorded during rainy seasons. Reproduction patterns and sex ratios did not differ between months. Survival estimates were not influenced by season, and recruitment was low, with growth rate estimates of 1 animal per month. These estimates suggest a stable population of B. hindei in Zaraninge Forest. Further studies are recommended to establish the home range, diet and burrowing behavior of the species in coastal forests in East Africa.

  16. Failure statistics for commercial lithium ion batteries: A study of 24 pouch cells

    NASA Astrophysics Data System (ADS)

    Harris, Stephen J.; Harris, David J.; Li, Chen

    2017-02-01

    There are relatively few publications that assess capacity decline in enough commercial cells to quantify cell-to-cell variation, but those that do show a surprisingly wide variability. Capacity curves cross each other often, a challenge for efforts to measure the state of health and predict the remaining useful life (RUL) of individual cells. We analyze capacity fade statistics for 24 commercial pouch cells, providing an estimate for the time to 5% failure. Our data indicate that RUL predictions based on remaining capacity or internal resistance are accurate only once the cells have already sorted themselves into ;better; and ;worse; ones. Analysis of our failure data, using maximum likelihood techniques, provide uniformly good fits for a variety of definitions of failure with normal and with 2- and 3-parameter Weibull probability density functions, but we argue against using a 3-parameter Weibull function for our data. pdf fitting parameters appear to converge after about 15 failures, although business objectives should ultimately determine whether data from a given number of batteries provides sufficient confidence to end lifecycle testing. Increased efforts to make batteries with more consistent lifetimes should lead to improvements in battery cost and safety.

  17. Multi-analyte approach for determining the extraction of tobacco constituents from pouched snus by consumers during use

    PubMed Central

    2013-01-01

    Background Snus is a smokeless oral tobacco product with a significant history of use in Sweden, where it is regulated under food legislation. Users place a small porous sachet or a pinch of loose snus between the upper jaw and cheek for approximately one hour, leading to partial intake of tobacco constituents. To understand user exposure to tobacco, a multi-analyte approach based on the extraction of pouches by methanol, ethanol and water was validated and applied to the measurement of various constituents, including nicotine, four tobacco-specific nitrosamines (TSNAs), propylene glycol, water, ammonium, nitrate, sodium, chloride, linalool, citronellol, linalyl acetate and geraniol, extracted from snus pouches during use by human consumers. Results After validation against established single-analyte methods, the multi-analyte approach was used to determine constituent levels in snus pouches before and after one hour of use. Although the concentrations in the snus pouches varied from nanogram (e.g. TSNAs) to milligram (e.g. nicotine, sodium and propylene glycol) quantities (25.1 ng to 35.3 mg per 1 g pouch), the mean percentage extracted varied only from 19.2% for linalyl acetate to 37.8% for the TSNA 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK) among all constituents analyzed. The TSNAs, some of which are known carcinogens, showed the highest percentage extraction (range 34.6%–37.8%). Measurement variability was low for all analytes, ranging from 2.4% (total TSNAs, NAT) to 9.5% (geraniol). By contrast, inter-subject variability ranged from 6.7% (NAB) to 52.2% (linalyl acetate), and was greater than 20% for eight of the constituents analyzed. Intra-subject variability ranged from 3.4% (citronellol) to 29.7% (geraniol). Conclusions Generally, less than a third of each constituent tested was extracted during one hour of snus use, independent of constituent concentration. The variable nature of in-use extraction was shown to be driven by inter

  18. Congenital prothrombin deficiency.

    PubMed

    Lancellotti, Stefano; De Cristofaro, Raimondo

    2009-06-01

    Prothrombin deficiency is among the rarest inherited coagulation disorders, with a prevalence of approximately 1:2,000,000. Two main phenotypes can be distinguished: (1) hypoprothrombinemia (type I deficiency), characterized by concomitantly low levels of activity and antigen; and (2) dysprothrombinemia (type II deficiency), characterized by the normal or near-normal synthesis of a dysfunctional protein. In some cases, hypoprothrombinemia associated with dysprothrombinemia was also described in compound heterozygous defects. No living patient with undetectable plasma prothrombin has been reported to date. Prothrombin is encoded by a gene of approximately 21 kb located on chromosome 11 and containing 14 exons. Forty different mutations have been identified and characterized in prothrombin deficiency. Many of them surround the catalytic site, whereas another "hot spot" is localized in the recognition domain called anion binding exosite I, also called fibrinogen recognition site. Recently, mutations were identified also in the Na (+)-binding loop and in the light A-chain of thrombin. Most hypoprothrombinemia-associated mutations are missense, but there are also nonsense mutations leading to stop codons and one single nucleotide deletion. Finally, the main aspects of clinical manifestations and therapy of congenital prothrombin deficiency are presented and discussed.

  19. Singing in congenital amusia.

    PubMed

    Dalla Bella, Simone; Giguère, Jean-François; Peretz, Isabelle

    2009-07-01

    Congenital amusia is a musical disorder characterized by impaired pitch perception. To examine to what extent this perceptual pitch deficit may compromise singing, 11 amusic individuals and 11 matched controls were asked to sing a familiar tune with lyrics and on the syllable /la/. Acoustical analysis of sung renditions yielded measures of pitch accuracy (e.g., number of pitch errors) and time accuracy (e.g., number of time errors). The results revealed that 9 out of 11 amusics were poor singers, mostly on the pitch dimension. Poor singers made an anomalously high number of pitch interval and contour errors, produced pitch intervals largely deviating from the score, and lacked pitch stability; however, more than half of the amusics sang in-time. Amusics' variability in singing proficiency was related to their residual pitch perceptual ability. Thus, their singing deficiency might be a consequence of their perceptual deficit. Nevertheless, there were notable exceptions. Two amusic individuals, despite their impoverished perception, sang proficiently. The latter findings are consistent with the existence of separate neural pathways for auditory perception and action.

  20. [Congenital insensitivity to pain].

    PubMed

    Danziger, N; Willer, J-C

    2009-02-01

    Congenital insensitivity to pain (CIP) is a rare syndrome with various clinical expressions, characterized by a dramatic impairment of pain perception since birth. In the 1980s, progress in nerve histopathology allowed to demonstrate that CIP was almost always a manifestation of hereditary sensory and autonomic neuropathies (HSAN) involving the small-calibre (A-delta and C) nerve fibres which normally transmit nociceptive inputs along sensory nerves. Identification of the genetic basis of several clinical subtypes has led to a better understanding of the mechanisms involved, emphasizing in particular the crucial role of nerve growth factor (NGF) in the development and survival of nociceptors. Recently, mutations of the gene coding for the sodium channel Nav1.7--a voltage-dependent sodium channel expressed preferentially on peripheral nociceptors and sympathetic ganglia--have been found to be the cause of CIP in patients showing a normal nerve biopsy. This radical impairment of nociception mirrors the hereditary pain syndromes associated with "gain of function" mutations of the same ion channel, such as familial erythromelalgia and paroxysmal extreme pain disorder. Future research with CIP patients may identify other proteins specifically involved in nociception, which might represent potential targets for chronic pain treatment. Moreover, this rare clinical syndrome offers the opportunity to address interesting neuropsychological issues, such as the role of pain experience in the construction of body image and in the empathic representation of others' pain.

  1. Congenital lipoid adrenal hyperplasia

    PubMed Central

    2014-01-01

    Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and 46,XY genetic males are phenotypic females due to disrupted testicular androgen secretion. The StAR p.Q258X mutation accounts for about 70% of affected alleles in most patients of Japanese and Korean ancestry. However, it is more prevalent (92.3%) in the Korean population. Recently, some patients have been showed that they had late and mild clinical findings. These cases and studies constitute a new entity of 'nonclassic lipoid CAH'. The cholesterol side-chain cleavage enzyme, P450scc (CYP11A1), plays an essential role converting cholesterol to pregnenolone. Although progesterone production from the fetally derived placenta is necessary to maintain a pregnancy to term, some patients with P450scc mutations have recently been reported. P450scc mutations can also cause lipoid CAH and establish a recently recognized human endocrine disorder. PMID:25654062

  2. Canine congenital portosystemic encephalopathy.

    PubMed

    Maddison, J E

    1988-08-01

    The case records of 21 dogs with congenital portosystemic encephalopathy are reviewed. The disorder was most common in Australian cattledogs (blue heelers; 8 cases), Old English sheepdogs (3 cases) and Maltese terriers (3 cases). Extra-hepatic shunts occurred in small breeds, with the exception of 1 cattledog, while intra-hepatic shunts occurred in the medium to large breeds. The most common clinical pathology abnormalities were abnormal ammonia tolerance, mild to moderate increases in plasma alanine aminotransferase or alkaline phosphatase concentrations, decreased total serum protein concentrations, increased fasting ammonia concentrations and ammonium biurate crystalluria. Radiological examination revealed that all the dogs had a small liver. The kidneys were enlarged in 5 of 10 dogs in which kidney size could be estimated. Surgical ligation of an extra-hepatic shunt was successful in 2 of 4 dogs in which it was attempted. Medical management resulted in alleviation of clinical signs in 5 of 8 dogs. The period of successful treatment ranged from a few months to over a year.

  3. [Consanguinity and congenital abnormalities].

    PubMed

    Søgaard, Marie; Vedsted-Jakobsen, Agnete

    2003-04-28

    Knowledge of consanguinity is relevant for employees in the Danish national health service, since about 7.5% of the Danish population has another ethnic background than Danish and the majority comes from cultures where consanguineous marriages are not unusual. In the literature it is found that consanguineous couples have a higher risk of having children with congenital malformations. The risk is increased by a factor 2 to 2 1/2. The average risk in Denmark is about 3%. Primarily, the autosomal recessive diseases are expressed in children with consanguineous parents. In order to advise and diagnose it is essential to clarify the consanguinity state. In case of pregnancy with consanguineous parents, we recommend: 1) Counselling to estimate the risk of foetal illness and information about possible examination possibilities. 2) An ultrasound scan at the gestational age of 11-14 weeks in order to measure nuchal translucency and an early malformation scan. 3) An ultrasound scan for malformations at the gestational age of 18-20 weeks. 4) An ultrasound scan especially in order to detect foetal heart malformations at the gestational age of 20-24 weeks.

  4. [Congenital aortic stenosis].

    PubMed

    Yamaguchi, M

    2001-08-01

    Recent advances in and controversies concerning the management of children with congenital valvular aortic stenosis are discussed. In neonates with critical aortic stenosis, improved survival has recently been reported after surgical open valvotomy and balloon valvuloplasty, although it is difficult at this point to compare the results of the two procedures and determine their differential indications. Good results have also been achieved after extended aortic valvuloplasty for recurrent aortic stenosis and/or insufficiency, but the length of follow-up in these patients is still short. The technique first reported in 1991 for bilateral enlargement fo a small annulus permits the insertion of an aortic valve 3-4 sizes larger than the native annulus. It entails no risk of distorting the mitral valve, damaging the conduction system or important branches of the coronary arteries, or resulting in left ventricular dysfunction. The Ross procedure is now widely applied in the West, with reports of early mortality rates of less than 5% and event-free survival rates of 80-90% during follow-up of 4-8 years. Longer follow-up and continued careful evaluation are required to resolve the issue of possible dilatation and subsequent neoaortic valve dysfunction and pulmonary stenosis due to allograft degeneration after pulmonary autograft root replacement in children.

  5. [Congenital Esophageal Atresia].

    PubMed

    Suzuki, Makoto; Kuwano, Hiroyuki

    2015-07-01

    In this report, we describe the esophageal atresia in terms of current surgical management on the basis of our experience and literatures. Traditionally, infants with esophageal atresia have presented shortly after birth because of an inability to pass an orogastric tube, respiratory distress, or an inability to tolerate feeding. And also, an isolated trachea-esophageal fistula (TEF) usually cases coughing, recurrent pneumonia, or choking during feedings. To ignore these symptoms is to risk a delayed diagnosis. The condition may be associated with other major congenital anomalies such as those seen in the vertebral, anal, cardiac, tracheo-esophageal, renal/radial (VACTER) association, or it may be an isolated defect. Therapeutic strategies for esophageal atresia are a prevention of pulmonary complication by TEF closing and an early establishment of enteral alimentation. We promptly repair healthy infants without performing a gastrostomy and delay repair in infants with high-risk factors such as associated severe cardiac anomaly and respiratory insufficiency. Esophageal atresia has been classically approached through a thoracotomy. The disadvantages of such a thoracotomy have been recognized for a long time, for example winged scapula, elevation of fixation of shoulder, asymmetry of the chest wall, rib fusion, scoliosis, and breast and pectoral muscle maldevelopment. To avoid such disadvantages, thoracoscopic repair was recently reported.

  6. Congenital Diaphragmatic Hernia

    PubMed Central

    2012-01-01

    Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is < 5 in 10,000 live-births. The etiology is unknown although clinical, genetic and experimental evidence points to disturbances in the retinoid-signaling pathway during organogenesis. Antenatal diagnosis is often made and this allows prenatal management (open correction of the hernia in the past and reversible fetoscopic tracheal obstruction nowadays) that may be indicated in cases with severe lung hypoplasia and grim prognosis. Treatment after birth requires all the refinements of critical care including extracorporeal membrane oxygenation prior to surgical correction. The best hospital series report 80% survival but it remains around 50% in population-based studies. Chronic respiratory tract disease, neurodevelopmental problems, neurosensorial hearing loss and gastroesophageal reflux are common problems in survivors. Much more research on several aspects of this severe condition is warranted. PMID:22214468

  7. Laparoscopic Colon Resection

    MedlinePlus

    ... inches to complete the procedure. What are the Advantages of Laparoscopic Colon Resection? Results may vary depending ... type of procedure and patient’s overall condition. Common advantages are: Less postoperative pain May shorten hospital stay ...

  8. Colon cancer - slideshow

    MedlinePlus

    ... ency/presentations/100157.htm Colon cancer - Series—Normal anatomy To use the sharing features on this page, ... Bethesda, MD 20894 U.S. Department of Health and Human Services National Institutes of Health Page last updated: ...

  9. Congenital parasitic infections: a review.

    PubMed

    Carlier, Yves; Truyens, Carine; Deloron, Philippe; Peyron, François

    2012-02-01

    This review defines the concepts of maternal-fetal (congenital) and vertical transmissions (mother-to-child) of pathogens and specifies the human parasites susceptible to be congenitally transferred. It highlights the epidemiological features of this transmission mode for the three main congenital parasitic infections due to Toxoplasma gondii, Trypanosoma cruzi and Plasmodium sp. Information on the possible maternal-fetal routes of transmission, the placental responses to infection and timing of parasite transmission are synthesized and compared. The factors susceptible to be involved in parasite transmission and development of congenital parasitic diseases, such as the parasite genotypes, the maternal co-infections and parasitic load, the immunological features of pregnant women and the capacity of some fetuses/neonates to overcome their immunological immaturity to mount an immune response against the transmitted parasites are also discussed and compared. Analysis of clinical data indicates that parasitic congenital infections are often asymptomatic, whereas symptomatic newborns generally display non-specific symptoms. The long-term consequences of congenital infections are also mentioned, such as the imprinting of neonatal immune system and the possible trans-generational transmission. The detection of infection in pregnant women is mainly based on standard serological or parasitological investigations. Amniocentesis and cordocentesis can be used for the detection of some fetal infections. The neonatal infection can be assessed using parasitological, molecular or immunological methods; the place of PCR in such neonatal diagnosis is discussed. When such laboratory diagnosis is not possible at birth or in the first weeks of life, standard serological investigations can also be performed 8-10 months after birth, to avoid detection of maternal transmitted antibodies. The specific aspects of treatment of T. gondii, T. cruzi and Plasmodium congenital infections are

  10. Congenital Diaphragmatic Hernia with Delayed Presentation

    PubMed Central

    2016-01-01

    Congenital diaphragmatic hernia (CDH) is caused due to abnormal formation of the muscular parts of diaphragm. The incidence of CDH in common births ranges from 1/25000 to 1/30000. Pulmonary hypoplasia and pulmonary hypertension are factors that associate with the increase of mortality and morbidity due to CDH. We presented a 68-year-old Iranian woman with abdominal pain and tenderness in right upper quadrant who was diagnosed as having CDH. The disease was detected using chest X-ray and chest and abdomen sonography and confirmed with chest and abdomen CT scan with and without oral contrast. A defect was revealed in posterolateral right diaphragm with omentum and transverse colon herniated through it. Right posterolateral thoracotomy was performed to cure the disease. CT and CXR were the two useful methods in diagnosis of CDH in this patient, although CDH detection prior to surgery is too challenging because of rare cases and different types of CDH. In order to improve clinical cares in adult CDH patients, investigating more cases and long term follow-up are recommended. PMID:27872786

  11. Signs and Symptoms of Congenital Heart Defects

    MedlinePlus

    ... heart disease. Google+ Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/ ... in the journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI- ...

  12. How Are Congenital Heart Defects Treated?

    MedlinePlus

    ... heart disease. Google+ Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/ ... in the journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI- ...

  13. How Are Congenital Heart Defects Diagnosed?

    MedlinePlus

    ... heart disease. Google+ Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/ ... in the journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI- ...

  14. Care and Treatment for Congenital Heart Defects

    MedlinePlus

    ... Physical Activity Recommendations for Heart Health • Tools & Resources Web Booklets on Congenital Heart Defects These online publications ... to you or your child’s defect and concerns. Web Booklet: Adults With Congenital Heart Defects Web Booklet: ...

  15. Magnetic resonance imaging of congenital heart disease

    SciTech Connect

    Fletcher, B.D.; Jacobstein, M.D.

    1988-01-01

    Focusing primarily on MR imaging of the heart, this book covers other diagnostic imaging modalities as well. The authors review new technologies and diagnostic procedures pertinent to congenital heat disease and present each congenital heat abnormality as a separate entity.

  16. Genetics Home Reference: congenital dyserythropoietic anemia

    MedlinePlus

    ... Understand Genetics Home Health Conditions CDA congenital dyserythropoietic anemia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital dyserythropoietic anemia ( CDA ) is an inherited blood disorder that affects ...

  17. Genetic Counseling for Congenital Heart Defects

    MedlinePlus

    ... Peripheral Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Oct 26, ... person with congenital heart disease considers having children. Genetic counseling can help answer these questions and address ...

  18. Genetics Home Reference: congenital leptin deficiency

    MedlinePlus

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions congenital leptin deficiency congenital leptin ...

  19. Genetics Home Reference: congenital nephrotic syndrome

    MedlinePlus

    ... 4 links) Great Ormond Street Hospital for Children (UK) MedlinePlus Encyclopedia: Congenital Nephrotic Syndrome MedlinePlus Encyclopedia: End- ... Version National Health Service: Nephrotic Syndrome in Children (UK) Orphanet: Congenital nephrotic syndrome, Finnish type Patient Support ...

  20. Treatment Options for Congenital Pigmented Nevus

    MedlinePlus

    ... Now Open Conference Schedule Highlights Fundraiser Advice Holiday Shopping at Amazon Happy In My Skin Congenital Nevus ... Now Open Conference Schedule Highlights Fundraiser Advice Holiday Shopping at Amazon Happy In My Skin Congenital Nevus ...

  1. Longchain n-3 polyunsaturated fatty acids and microvascular reactivity: observation in the hamster cheek pouch.

    PubMed

    Conde, Cristiane M S; Cyrino, Fatima Z G A; Bottino, Daniel A; Gardette, Jean; Bouskela, Eliete

    2007-05-01

    Previous experiments in our laboratory, using the hamster cheek pouch microcirculation, have shown that precapillary vessels exhibit spontaneous rhythmic luminal variations, termed vasomotion, a myogenic activity sustained by a balance between membrane currents among which polarizing K(+) currents play an important role. In these microvessels, endothelium-derived relaxing factors (EDRFs) seem to regulate arteriolar diameter [via nitric oxide (NO) and cyclic GMP] and vasomotion [probably via endothelium-derived hyperpolarizing factor (EDHF)]. Fish or fish oil diet can decrease the risk of cardiovascular diseases, probably by modifying the conductance of selective ion channels, such as K(+) and/or Ca(++), and/or increasing the production of vasodilators, such as NO. To investigate its effect on microvascular reactivity, using the same preparation and an intravital microscope coupled to a closed circuit TV system, male hamsters were treated for 14 days, twice a day, with 0.4 mL/100 g body weight with fish or olive oil. An attempt was also undertaken to record in arterioles, in vivo, the membrane potential of smooth muscle cells during their vasomotor activity combining conventional microelectrode and intravital microscopy techniques. The effects of topical application of two vasodilators, acetylcholine [endothelium-dependent one, NO release and membrane hyperpolarization via Ca(++)-activated K(+) channels (K(Ca))] and sodium nitroprusside (endothelium-independent, NO donor and no change on membrane potential) and two vasoconstrictors which elicited membrane depolarization via Ca(++) channels, phenylephrine (alpha(1)-adrenergic receptor agonist) and serotonin (5-hydroxi-tryptamine) on mean internal diameter of arterioles and venules, arteriolar blood flows, spontaneous arteriolar vasomotion frequency and amplitude and functional capillary density (FCD, number of capillaries with flowing red blood cells per unit area of tissue) were determined. Anesthesia was induced by

  2. Vision following extended congenital blindness.

    PubMed

    Ostrovsky, Yuri; Andalman, Aaron; Sinha, Pawan

    2006-12-01

    Animal studies suggest that early visual deprivation can cause permanent functional blindness. However, few human data on this issue exist. Given enough time for recovery, can a person gain visual skills after several years of congenital blindness? In India, we recently had an unusual opportunity to work with an individual whose case history sheds light on this question. S.R.D. was born blind, and remained so until age 12. She then underwent surgery for the removal of dense congenital cataracts. We evaluated her performance on an extensive battery of visual tasks 20 years after surgery. We found that although S.R.D.'s acuity is compromised, she is proficient on mid- and high-level visual tasks. These results suggest that the human brain retains an impressive capacity for visual learning well into late childhood. They have implications for current conceptions of cortical plasticity and provide an argument for treating congenital blindness even in older children.

  3. Congenital nystagmus and negative electroretinography

    PubMed Central

    Roussi, Mirella; Dalens, Hélène; Marcellier, Jean Jacques; Bacin, Franck

    2011-01-01

    Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17–18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB). This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina. PMID:21573087

  4. Adult Congenital Heart Disease in Pregnancy.

    PubMed

    Lindley, Kathryn J; Conner, Shayna N; Cahill, Alison G

    2015-06-01

    With the success of modern surgical techniques for congenital heart disease, the population of women of childbearing age with congenital heart disease is growing. Because of the significant hemodynamic load of pregnancy, labor, and delivery, women with congenital heart disease require preconceptual risk assessment and expert multidisciplinary care throughout pregnancy. The aim of this review is to discuss the management of cardiovascular, obstetric, and fetal care issues that are commonly encountered during pregnancy in women with congenital heart disease.

  5. Impact of electrolyte solvent and additive choices on high voltage Li-ion pouch cells

    NASA Astrophysics Data System (ADS)

    Xia, Jian; Nelson, K. J.; Lu, Zhonghua; Dahn, J. R.

    2016-10-01

    The effects that various electrolyte solvents and electrolyte additives had on both LaPO4-coated LiNi0.4Mn0.4Co0.2O2 and uncoated LiNi0.4Mn0.4Co0.2O2/graphite pouch cells were studied using automated storage, electrochemical impedance spectroscopy, gas production and long-term cycling experiments. Storage experiments showed that the voltage drop during storage at 4.3 or 4.4 V for both coated and uncoated cells was very similar for the same electrolyte choice. At 4.5 V or above, the LaPO4-coated cells had a significantly smaller voltage drop than the uncoated cells except when fluorinated electrolytes were used. Automated charge discharge cycling/impedance spectroscopy testing of cells held at 4.5 V for 24 h every cycle showed that all cells containing ethylene carbonate:ethyl methyl carbonate electrolyte or sulfolane:ethyl methyl carbonate electrolyte exhibited severe capacity fade. By contrast, cells containing fluorinated electrolytes had the best capacity retention and smallest impedance growth during these aggressive cycling/hold tests. Long-term cycling experiments to 4.5 V confirmed that cells containing fluorinated electrolyte had the best cycling performance in the uncoated LiNi0.4Mn0.4Co0.2O2/graphite cells while cells containing sulfolane:ethyl methyl carbonate electrolyte had the best cycling performance in coated LiNi0.4Mn0.4Co0.2O2/graphite cells.

  6. Gastric pouches and the mucociliary sole: setting the stage for nervous system evolution.

    PubMed

    Arendt, Detlev; Benito-Gutierrez, Elia; Brunet, Thibaut; Marlow, Heather

    2015-12-19

    Prerequisite for tracing nervous system evolution is understanding of the body plan, feeding behaviour and locomotion of the first animals in which neurons evolved. Here, a comprehensive scenario is presented for the diversification of cell types in early metazoans, which enhanced feeding efficiency and led to the emergence of larger animals that were able to move. Starting from cup-shaped, gastraea-like animals with outer and inner choanoflagellate-like cells, two major innovations are discussed that set the stage for nervous system evolution. First, the invention of a mucociliary sole entailed a switch from intra- to extracellular digestion and increased the concentration of nutrients flowing into the gastric cavity. In these animals, an initial nerve net may have evolved via division of labour from mechanosensory-contractile cells in the lateral body wall, enabling coordinated movement of the growing body that involved both mucociliary creeping and changes of body shape. Second, the inner surface of the animals folded into metameric series of gastric pouches, which optimized nutrient resorption and allowed larger body sizes. The concomitant acquisition of bilateral symmetry may have allowed more directed locomotion and, with more demanding coordinative tasks, triggered the evolution of specialized nervous subsystems. Animals of this organizational state would have resembled Ediacarian fossils such as Dickinsonia and may have been close to the cnidarian-bilaterian ancestor. In the bilaterian lineage, the mucociliary sole was used mostly for creeping, or frequently lost. One possible remnant is the enigmatic Reissner's fibre in the ventral neural tube of cephalochordates and vertebrates.

  7. Quality and shelf life of buffalo meat blocks processed in retort pouches.

    PubMed

    Devadason, I Prince; Anjaneyulu, A S R; Mendirtta, S K; Murthy, T R K

    2014-12-01

    The shelf life of buffalo meat blocks processed in 3-ply retort pouches at Fo = 12.13 in a stock sterilizer were evaluated at 15 days interval for physico-chemical, microbiological and sensory attributes for a period of 3 months. The pH of the product was 6.28 at 0 day and a gradual decline was noticed during storage. Texture of the product as indicated by shear force values had decreased slowly. The residual nitrite content had significantly declined from 82.67 ppm at 0 day to 45.00 ppm on 90th day of storage. The TBARS values were 0.24 and 0.67 mg malonaldehyde/kg, respectively at 0 day and 90 days of storage. Tyrosine value had significantly increased from 0.37 mg/100 g at 0 day to 0.58 mg/100 g during storage. Free aminoacid content increased gradually from an initial level of 124.32 to 217.51 at 90(th) day of storage. The SDS-PAGE hydrolysis pattern showed barely discernible 205 KDa protein and presence of subfragments in the molecular range of 63 KDa to 29 KDa protein. The sensory studies indicated that the products were well acceptable up to a period of 90 days. As the storage period increased pH, reidual nitrite, sensory attributes declined significantly and TBARS value, tyrosine value and free aminoacid content significantly increased. Mesophillic aerobes and anerobes were found to be absent. The shelf life study indicated that the products were well acceptable up to a period of 90 days based on the assessment of physico-chemical, microbiological and sensory attributes.

  8. fras1 shapes endodermal pouch 1 and stabilizes zebrafish pharyngeal skeletal development

    PubMed Central

    Talbot, Jared Coffin; Walker, Macie B.; Carney, Thomas J.; Huycke, Tyler R.; Yan, Yi-Lin; BreMiller, Ruth A.; Gai, Linda; DeLaurier, April; Postlethwait, John H.; Hammerschmidt, Matthias; Kimmel, Charles B.

    2012-01-01

    Lesions in the epithelially expressed human gene FRAS1 cause Fraser syndrome, a complex disease with variable symptoms, including facial deformities and conductive hearing loss. The developmental basis of facial defects in Fraser syndrome has not been elucidated. Here we show that zebrafish fras1 mutants exhibit defects in facial epithelia and facial skeleton. Specifically, fras1 mutants fail to generate a late-forming portion of pharyngeal pouch 1 (termed late-p1) and skeletal elements adjacent to late-p1 are disrupted. Transplantation studies indicate that fras1 acts in endoderm to ensure normal morphology of both skeleton and endoderm, consistent with well-established epithelial expression of fras1. Late-p1 formation is concurrent with facial skeletal morphogenesis, and some skeletal defects in fras1 mutants arise during late-p1 morphogenesis, indicating a temporal connection between late-p1 and skeletal morphogenesis. Furthermore, fras1 mutants often show prominent second arch skeletal fusions through space occupied by late-p1 in wild type. Whereas every fras1 mutant shows defects in late-p1 formation, skeletal defects are less penetrant and often vary in severity, even between the left and right sides of the same individual. We interpret the fluctuating asymmetry in fras1 mutant skeleton and the changes in fras1 mutant skeletal defects through time as indicators that skeletal formation is destabilized. We propose a model wherein fras1 prompts late-p1 formation and thereby stabilizes skeletal formation during zebrafish facial development. Similar mechanisms of stochastic developmental instability might also account for the high phenotypic variation observed in human FRAS1 patients. PMID:22782724

  9. Gastric pouches and the mucociliary sole: setting the stage for nervous system evolution

    PubMed Central

    Arendt, Detlev; Benito-Gutierrez, Elia; Brunet, Thibaut; Marlow, Heather

    2015-01-01

    Prerequisite for tracing nervous system evolution is understanding of the body plan, feeding behaviour and locomotion of the first animals in which neurons evolved. Here, a comprehensive scenario is presented for the diversification of cell types in early metazoans, which enhanced feeding efficiency and led to the emergence of larger animals that were able to move. Starting from cup-shaped, gastraea-like animals with outer and inner choanoflagellate-like cells, two major innovations are discussed that set the stage for nervous system evolution. First, the invention of a mucociliary sole entailed a switch from intra- to extracellular digestion and increased the concentration of nutrients flowing into the gastric cavity. In these animals, an initial nerve net may have evolved via division of labour from mechanosensory-contractile cells in the lateral body wall, enabling coordinated movement of the growing body that involved both mucociliary creeping and changes of body shape. Second, the inner surface of the animals folded into metameric series of gastric pouches, which optimized nutrient resorption and allowed larger body sizes. The concomitant acquisition of bilateral symmetry may have allowed more directed locomotion and, with more demanding coordinative tasks, triggered the evolution of specialized nervous subsystems. Animals of this organizational state would have resembled Ediacarian fossils such as Dickinsonia and may have been close to the cnidarian–bilaterian ancestor. In the bilaterian lineage, the mucociliary sole was used mostly for creeping, or frequently lost. One possible remnant is the enigmatic Reissner's fibre in the ventral neural tube of cephalochordates and vertebrates. PMID:26554050

  10. Use of a laparoscopic specimen retrieval pouch to facilitate removal of intact or fragmented cystic calculi from standing sedated horses: 8 cases (2012-2015).

    PubMed

    Katzman, Scott A; Vaughan, Betsy; Nieto, Jorge E; Galuppo, Larry D

    2016-08-01

    OBJECTIVE To evaluate the use of a laparoscopic specimen retrieval pouch for removal of intact or fragmented cystic calculi from standing horses. DESIGN Retrospective case series. ANIMALS 8 horses (5 geldings and 3 mares) with cystic calculi. PROCEDURES Physical examination and cystoscopic, ultrasonographic, and hematologic evaluations of urinary tract function were performed for each horse. A diagnosis of cystic calculus was made on the basis of results of cystoscopy and ultrasonography. Concurrent urolithiasis or other urinary tract abnormalities identified during preoperative evaluation were recorded. Horses were sedated and placed in standing stocks, and the perineum was aseptically prepared. Direct access to the urinary bladder was gained in geldings via perineal urethrotomy or in mares by a transurethral approach. Calculi were visualized endoscopically, manipulated into the retrieval pouch, and removed intact or fragmented (for larger calculi). RESULTS For 4 geldings and 1 mare, fragmentation was necessary to facilitate calculus removal. Mean duration of surgery was 125 minutes, and trauma to the urinary bladder and urethra was limited to areas of hyperemia and submucosal petechiation. No postoperative complications were encountered for any horse. When lithotripsy was required, the retrieval pouch provided an effective means of stabilizing calculi and containing the fragments for removal. CONCLUSIONS AND CLINICAL RELEVANCE Use of the laparoscopic specimen retrieval pouch was an effective, minimally traumatic method for retrieving cystic calculi from standing horses. The pouch protected the urinary bladder and urethra from trauma during calculus removal and allowed for stabilization, containment, and fragmentation of calculi when necessary.

  11. Leber's congenital amaurosis: an update.

    PubMed

    Fazzi, Elisa; Signorini, Sabrina Giovanna; Scelsa, Barbara; Bova, Stefania Maria; Lanzi, Giovanni

    2003-01-01

    Leber's congenital amaurosis (LCA) is a clinically and genetically heterogeneous disorder characterized by severe loss of vision at birth. It accounts for 10-18% of cases of congenital blindness. Some patients exhibit only blindness of retinal origin whereas others show evidence of a multi-systemic involvement. We review the literature relating to this severe disorder, highlighting unresolved questions, in particular the nature of the association of LCA with mental retardation and with systemic findings and syndromic pictures. In recent years, genetic advances in the diagnosis of LCA have opened up new horizons, also from a therapeutic point of view. A better understanding of this pathology would be valuable for paediatric neurologists.

  12. Lengthening of congenital forearm stumps.

    PubMed

    Jasiewicz, Barbara; Tesiorowski, Maciej; Kacki, Wojciech; Kasprzyk, Marcin; Zarzycki, Daniel

    2006-05-01

    The Ilizarov device and distraction osteogenesis method became very useful in correction and elongation of forearm defects. Two cases of forearm elongation with congenital transverse defect are described. The construction of the device is provided. During follow-up examination, 2 and 7 years after the treatment, good clinical results were achieved in both patients with the use of upper limb prosthesis employing the patient's own elbow joint. Presented application of the Ilizarov method can significantly improve possibilities for the use of prosthesis in patients with congenital upper limb defects and result in better cosmetic and functional outcome.

  13. Leber's congenital amaurosis as conceived by Leber.

    PubMed

    Pinckers, A J

    1979-01-01

    Not being satisfied with the present-day diagnosis of Leber's congenital amaurosis, the original papers written by Leber were studied. It gradually became clear that what Leber had in mind with congenital amaurosis is roughly the same as what we know as neuronal ceroid lipofuscinosis. The present diagnosis of Leber's congenital amaurosis is not a clinical syndrome but an aspecific symptom complex.

  14. Accelerate Genomic Aging in Congenital Neutropenia

    DTIC Science & Technology

    2015-08-01

    myeloid leukemia (AML) is perhaps the major clinical concern in patients with severe congenital neutropenia (SCN) and Shwachman- Diamond syndrome (SDS... Diamond syndrome (SDS), cyclic neutropenia, or age-matched healthy controls. Aim 2. To determine whether increased G-CSF signaling accelerates the...agents, such as radiation. 2. KEYWORDS Congenital neutropenia Severe congenital neutropenia Shwachman Diamond syndrome Cyclic neutropenia

  15. Comparative evaluation of antiproliferative, antiangiogenic and apoptosis inducing potential of black tea polyphenols in the hamster buccal pouch carcinogenesis model

    PubMed Central

    Letchoumy, Paramasivame Vidjaya; Mohan, Kurapathy Venkata Poorna Chandra; Prathiba, Duvuru; Hara, Yukihiko; Nagini, Siddavaram

    2007-01-01

    Background To evaluate the relative chemopreventive efficacy of two black tea polyphenols, Polyphenon-B [P-B] and BTF-35 on 7,12-dimethylbenz [a]anthracene (DMBA)-induced hamster buccal pouch (HBP) carcinogenesis. Methods Hamsters were divided into 6 groups. The right buccal pouches of animals in groups 1–3 were painted with 0.5% of DMBA three times a week for 14 weeks. While hamsters in group 1 received no further treatment, animals in groups 2 and 3 received diet containing 0.05% P-B and BTF-35 respectively, four weeks before DMBA painting that was continued until the end of the experiments. Animals in groups 4 and 5 were given P-B and BTF-35 alone respectively as in groups 2 and 3. Group 6 animals served as the untreated control. All the animals were sacrificed after 18 weeks. The expression of p21, cyclin D1, glutathione S-transferase pi (GST-P), nuclear factor kappa B (NF-κB), Bcl-2, Bax, cytochrome C, caspase-3, caspase-9, poly(ADP-ribose) polymerase (PARP), cytokeratins and vascular endothelial growth factor (VEGF) was analysed by RT-PCR, immunohistochemical and Western blot analyses. Results DMBA treated animals developed buccal pouch carcinomas that displayed increased expression of p21, cyclin D1, GST-P, NF-κB, cytokeratins, VEGF and Bcl-2 with decreased expression of Bax, cytochrome C, caspase-3, caspase-9, and PARP. Dietary administration of both P-B and BTF-35 reduced the incidence of DMBA-induced HBP carcinomas by modulating markers of cell proliferation, cell survival, tumour infiltration, angiogenesis, and apoptosis. Conclusion The results of the present study provide a mechanistic basis for the chemopreventive potential of black tea polyphenols. The greater efficacy of BTF-35 in inhibiting HBP carcinogenesis and modulating multiple molecular targets may have a potential role in the prevention of oral cancer. PMID:18053169

  16. Blake's pouch cyst and Werdnig-Hoffmann disease: Report of a new association and review of the literature

    PubMed Central

    Shohoud, Sherien A.; Azab, Waleed A.; Alsheikh, Tarek M.; Hegazy, Rania M.

    2014-01-01

    Background: We report a case of a neonate with proximal spinal muscular atrophy (SMA) type 1 (also known as Werdnig-Hoffmann disease or severe infantile acute SMA) associated with a Blake's pouch cyst; a malformation that is currently classified within the spectrum of Dandy-Walker complex. The association of the two conditions has not been previously reported in the English literature. A comprehensive review of the pertinent literature is presented. Case Description: A male neonate was noted to have paucity of movement of the four limbs with difficulty of breathing and poor feeding soon after birth. Respiratory distress with tachypnea, necessitated endotracheal intubation and mechanical ventilation. Pregnancy was uneventful except for decreased fetal movements reported by the mother during the third trimester. Neurological examination revealed generalized hypotonia with decreased muscle power of all limbs, nonelicitable deep tendon jerks, and occasional tongue fasciculations. Molecular genetic evaluation revealed a homozygous deletion of both exons 7 and 8 of the survival motor neuron 1 (SMN1) gene, and exon 5 of the neuronal apoptosis inhibitory protein (NAIP) gene on the long arm of chromosome 5 consistent with Werdnig-Hoffmann disease (SMA type 1). At the age of 5 months, a full anterior fontanelle and abnormal increase of the occipito-frontal circumference were noted. Computed tomographic (CT) scan and magnetic resonance imaging (MRI) of the brain revealed a tetraventricular hydrocephalus and features of Blake's pouch cyst of the fourth ventricle. Conclusions: This case represents a previously unreported association of Blake's pouch cyst and SMA type 1. PMID:25225621

  17. Inflammation and colon cancer.

    PubMed

    Terzić, Janos; Grivennikov, Sergei; Karin, Eliad; Karin, Michael

    2010-06-01

    The connection between inflammation and tumorigenesis is well-established and in the last decade has received a great deal of supporting evidence from genetic, pharmacological, and epidemiological data. Inflammatory bowel disease is an important risk factor for the development of colon cancer. Inflammation is also likely to be involved with other forms of sporadic as well as heritable colon cancer. The molecular mechanisms by which inflammation promotes cancer development are still being uncovered and could differ between colitis-associated and other forms of colorectal cancer. Recent work has elucidated the role of distinct immune cells, cytokines, and other immune mediators in virtually all steps of colon tumorigenesis, including initiation, promotion, progression, and metastasis. These mechanisms, as well as new approaches to prevention and therapy, are discussed in this review.

  18. Boron biodistribution for BNCT in the hamster cheek pouch oral cancer model: Combined administration of BSH and BPA

    SciTech Connect

    D.W. Nigg; William Bauer; Various Others

    2014-06-01

    Sodium mercaptoundecahydro-closo-dodecaborate (BSH) is being investigated clinically for BNCT. We examined the biodistribution of BSH and BPA administered jointly in different proportions in the hamster cheek pouch oral cancer model. The 3 assayed protocols were non-toxic, and showed preferential tumor boron uptake versus precancerous and normal tissue and therapeutic tumor boron concentration values (70–85 ppm). All 3 protocols warrant assessment in BNCT studies to contribute to the knowledge of (BSH+BPA)-BNCT radiobiology for head and neck cancer and optimize therapeutic efficacy.

  19. Boron biodistribution for BNCT in the hamster cheek pouch oral cancer model: combined administration of BSH and BPA.

    PubMed

    Garabalino, Marcela A; Heber, Elisa M; Monti Hughes, Andrea; Pozzi, Emiliano C C; Molinari, Ana J; Nigg, David W; Bauer, William; Trivillin, Verónica A; Schwint, Amanda E

    2014-06-01

    Sodium mercaptoundecahydro-closo-dodecaborate (BSH) is being investigated clinically for BNCT. We examined the biodistribution of BSH and BPA administered jointly in different proportions in the hamster cheek pouch oral cancer model. The 3 assayed protocols were non-toxic, and showed preferential tumor boron uptake versus precancerous and normal tissue and therapeutic tumor boron concentration values (70-85ppm). All 3 protocols warrant assessment in BNCT studies to contribute to the knowledge of (BSH+BPA)-BNCT radiobiology for head and neck cancer and optimize therapeutic efficacy.

  20. Communication—indentation of Li-ion pouch cell: Effect of material homogenization on prediction of internal short circuit

    DOE PAGES

    Kumar, A.; Kalnaus, Sergiy; Simunovic, Srdjan; ...

    2016-09-12

    We performed finite element simulations of spherical indentation of Li-ion pouch cells. Our model fully resolves different layers in the cell. The results of the layer resolved models were compared to the models available in the literature that treat the cell as an equivalent homogenized continuum material. Simulations were carried out for different sizes of the spherical indenter. Here, we show that calibration of a failure criterion for the cell in the homogenized model depends on the indenter size, whereas in the layer-resoled model, such dependency is greatly diminished.

  1. Blister pouches for effective reagent storage and release for low cost point-of-care diagnostic applications

    NASA Astrophysics Data System (ADS)

    Smith, Suzanne; Sewart, Rene; Land, Kevin; Roux, Pieter; Gärtner, Claudia; Becker, Holger

    2016-03-01

    Lab-on-a-chip devices are often applied to point-of-care diagnostic solutions as they are low-cost, compact, disposable, and require only small sample volumes. For such devices, various reagents are required for sample preparation and analysis and, for an integrated solution to be realized, on-chip reagent storage and automated introduction are required. This work describes the implementation and characterization of effective liquid reagent storage and release mechanisms utilizing blister pouches applied to various point-of-care diagnostic device applications. The manufacturing aspects as well as performance parameters are evaluated.

  2. Congenital Absence of the Pericardium

    PubMed Central

    Kim, Hyun-Jin; Cho, Goo-Yeong; Choi, Sang Il

    2014-01-01

    Congenital absence of the pericardium is a rare cardiac malformation and is most often asymptomatic. It is usually discovered as an incidental finding. Physical examination, chest radiography, and electrocardiogram are often unremarkable. Echocardiography provides valuable information, and sometimes computed tomography or magnetic resonance imaging is needed for subsequent confirmation. PMID:24753808

  3. Keep Colon Cancer At Bay

    MedlinePlus

    ... https://medlineplus.gov/news/fullstory_164231.html Keep Colon Cancer at Bay Colonoscopy best way to detect disease ... 22, 2017 WEDNESDAY, March 22, 2017 (HealthDay News) -- Colon cancer can be treated and cured if it's diagnosed ...

  4. Spontaneous transverse colon volvulus

    PubMed Central

    Sana, Landolsi; Ali, Gassara; Kallel, Helmi; Amine, Baklouti; Ahmed, Saadaoui; Mohamed Ali, Elouer; Wajdi, Chaeib; Saber, Mannaï

    2013-01-01

    We report a case of spontaneous transverse colon volvulus in a young healthy woman. It constitutes an unusual case since it occurred in a young healthy woman with a subacute onset and no aetiological factor has been found. Its diagnosis is still challenging. Prompt recognition with emergency intervention constitutes the key to successful outcome. PMID:23785565

  5. Spontaneous transverse colon volvulus.

    PubMed

    Sana, Landolsi; Ali, Gassara; Kallel, Helmi; Amine, Baklouti; Ahmed, Saadaoui; Ali, Elouer Mohamed; Wajdi, Chaeib; Saber, Mannaï

    2013-01-01

    We report a case of spontaneous transverse colon volvulus in a young healthy woman. It constitutes an unusual case since it occurred in a young healthy woman with a subacute onset and no aetiological factor has been found. Its diagnosis is still challenging. Prompt recognition with emergency intervention constitutes the key to successful outcome.

  6. Colon diverticula - slideshow

    MedlinePlus

    ... anatomy URL of this page: //medlineplus.gov/ency/presentations/100158.htm Colon diverticula - series—Normal anatomy To use the sharing features on this page, please enable JavaScript. Go to slide 1 out of 6 Go to slide 2 ...

  7. Get Tested for Colon Cancer: Here's How

    MedlinePlus Videos and Cool Tools

    ... collection below explain colon cancer risk factors, screening tests, and treatments. There are also personal stories from ... Colon Cancer Risk Play Play Colon Cancer: Screening Tests Play Play Colon Cancer Screening Tests: Colonoscopy Play ...

  8. Streptococcus Adherence and Colonization

    PubMed Central

    Nobbs, Angela H.; Lamont, Richard J.; Jenkinson, Howard F.

    2009-01-01

    Summary: Streptococci readily colonize mucosal tissues in the nasopharynx; the respiratory, gastrointestinal, and genitourinary tracts; and the skin. Each ecological niche presents a series of challenges to successful colonization with which streptococci have to contend. Some species exist in equilibrium with their host, neither stimulating nor submitting to immune defenses mounted against them. Most are either opportunistic or true pathogens responsible for diseases such as pharyngitis, tooth decay, necrotizing fasciitis, infective endocarditis, and meningitis. Part of the success of streptococci as colonizers is attributable to the spectrum of proteins expressed on their surfaces. Adhesins enable interactions with salivary, serum, and extracellular matrix components; host cells; and other microbes. This is the essential first step to colonization, the development of complex communities, and possible invasion of host tissues. The majority of streptococcal adhesins are anchored to the cell wall via a C-terminal LPxTz motif. Other proteins may be surface anchored through N-terminal lipid modifications, while the mechanism of cell wall associations for others remains unclear. Collectively, these surface-bound proteins provide Streptococcus species with a “coat of many colors,” enabling multiple intimate contacts and interplays between the bacterial cell and the host. In vitro and in vivo studies have demonstrated direct roles for many streptococcal adhesins as colonization or virulence factors, making them attractive targets for therapeutic and preventive strategies against streptococcal infections. There is, therefore, much focus on applying increasingly advanced molecular techniques to determine the precise structures and functions of these proteins, and their regulatory pathways, so that more targeted approaches can be developed. PMID:19721085

  9. Comparsion of light dose on topical ALA-mediated photodynamic therapy for DMBA-induced hamster buccal pouch premalignant lesions

    NASA Astrophysics Data System (ADS)

    Yang, Deng-Fu; Tseng, Meng-Ke; Liu, Chung-Ji; Hsu, Yih-Chih

    2012-03-01

    Oral cancer has becomes the most prominent male cancer disease due to the local betel nut chewing habit combing with smoking and alcohol-drinking lifestyle. In order to minimize the systemic phototoxic effect of 5-aminolevulinic acid (ALA), this study was designed to use a topical ALA-mediated PDT for treatment of DMBA-induced hamster buccal pouch cancerous lesions. DMBA was applied to one of the buccal pouches of hamsters thrice a week for 8 to 10 weeks. Precancerous lesions were induced and proven by histological examination. These DMBA-induced cancerous lesions were used for testing the efficacy of topical ALA -mediated PDT. We found that ALA reached its peak level in cancerous lesions about 2.5 hrs after topical application of ALA gel. The precancerous lesions in hamsters were then treated with topical ALA -mediated PDT with light exposure dose of 75 and 100 J/cm2 using LED 635 nm Wonderlight device. It is suggesting that optimization of the given light dose is critical to the success of PDT results.

  10. Roles for FGF in lamprey pharyngeal pouch formation and skeletogenesis highlight ancestral functions in the vertebrate head.

    PubMed

    Jandzik, David; Hawkins, M Brent; Cattell, Maria V; Cerny, Robert; Square, Tyler A; Medeiros, Daniel M

    2014-02-01

    A defining feature of vertebrates (craniates) is a pronounced head supported and protected by a cellularized endoskeleton. In jawed vertebrates (gnathostomes), the head skeleton is made of rigid three-dimensional elements connected by joints. By contrast, the head skeleton of modern jawless vertebrates (agnathans) consists of thin rods of flexible cellular cartilage, a condition thought to reflect the ancestral vertebrate state. To better understand the origin and evolution of the gnathostome head skeleton, we have been analyzing head skeleton development in the agnathan, lamprey. The fibroblast growth factors FGF3 and FGF8 have various roles during head development in jawed vertebrates, including pharyngeal pouch morphogenesis, patterning of the oral skeleton and chondrogenesis. We isolated lamprey homologs of FGF3, FGF8 and FGF receptors and asked whether these functions are ancestral features of vertebrate development or gnathostome novelties. Using gene expression and pharmacological agents, we found that proper formation of the lamprey head skeleton requires two phases of FGF signaling: an early phase during which FGFs drive pharyngeal pouch formation, and a later phase when they directly regulate skeletal differentiation and patterning. In the context of gene expression and functional studies in gnathostomes, our results suggest that these roles for FGFs arose in the first vertebrates and that the evolution of the jaw and gnathostome cellular cartilage was driven by changes developmentally downstream from pharyngeal FGF signaling.

  11. A flexible and low-cost polypropylene pouch for naked-eye detection of herpes simplex viruses.

    PubMed

    Nahar, Sharifun; Ahmed, Minhaz Uddin; Safavieh, Mohammadali; Rochette, Annie; Toro, Carla; Zourob, Mohammed

    2015-02-07

    Effective viral detection is a key goal in the development of point of care (POC) diagnostic devices. Loop-mediated isothermal amplification (LAMP) could potentially be a valuable tool for rapid viral detection and diagnosis in commercial and hospital laboratories and resource limited settings. Here, we present a novel polypropylene pouch (PP) for detection of HSV-1 and HSV-2. With this plastic pouch we could detect up to 6.08 × 10(1) copies per μL of HSV-1 DNA and 0.598 copies per μL of HSV-2 DNA within 45 minutes. Since LAMP itself is less sensitive to inhibitory substances present in the real sample, we could also detect viral DNA without the need for viral DNA extraction and purification. The result from LAMP could be evaluated by naked eye due to the addition of hydroxy naphthol blue (HNB) dye in the reaction mixture. Since this proposed device is easy to handle, portable, user friendly and low cost, it offers a tremendous potential to be a perfect candidate for POC diagnostic device for use in resource limited settings.

  12. Gene expression signature of DMBA-induced hamster buccal pouch carcinomas: modulation by chlorophyllin and ellagic acid.

    PubMed

    Vidya Priyadarsini, Ramamurthi; Kumar, Neeraj; Khan, Imran; Thiyagarajan, Paranthaman; Kondaiah, Paturu; Nagini, Siddavaram

    2012-01-01

    Chlorophyllin (CHL), a water-soluble, semi-synthetic derivative of chlorophyll and ellagic acid (EA), a naturally occurring polyphenolic compound in berries, grapes, and nuts have been reported to exert anticancer effects in various human cancer cell lines and in animal tumour models. The present study was undertaken to examine the mechanism underlying chemoprevention and changes in gene expression pattern induced by dietary supplementation of chlorophyllin and ellagic acid in the 7,12-dimethylbenz[a]anthracene (DMBA)-induced hamster buccal pouch (HBP) carcinogenesis model by whole genome profiling using pangenomic microarrays. In hamsters painted with DMBA, the expression of 1,700 genes was found to be altered significantly relative to control. Dietary supplementation of chlorophyllin and ellagic acid modulated the expression profiles of 104 and 37 genes respectively. Microarray analysis also revealed changes in the expression of TGFβ receptors, NF-κB, cyclin D1, and matrix metalloproteinases (MMPs) that may play a crucial role in the transformation of the normal buccal pouch to a malignant phenotype. This gene expression signature was altered on treatment with chlorophyllin and ellagic acid. Our study has also revealed patterns of gene expression signature specific for chlorophyllin and ellagic acid exposure. Thus dietary chlorophyllin and ellagic acid that can reverse gene expression signature associated with carcinogenesis are novel candidates for cancer prevention and therapy.

  13. Colonic perforation by a transmural and transvalvular migrated retained sponge: multi-detector computed tomography findings.

    PubMed

    Camera, Luigi; Sagnelli, Marco; Guadagno, Paolo; Mainenti, Pier Paolo; Marra, Teresa; Scotto di Santolo, Maria; Fei, Landino; Salvatore, Marco

    2014-04-21

    Transmural migrated retained sponges usually impact at the level of the ileo-cecal valve leading to a small bowel obstruction. Once passed through the ileo-cecal valve, a retained sponge can be propelled forward by peristaltic activity and eliminated with feces. We report the case of a 52-year-old female with a past surgical history and recurrent episodes of abdominal pain and constipation. On physical examination, a generalized resistance was observed with tenderness in the right flank. Contrast-enhanced multi-detector computed tomography findings were consistent with a perforated right colonic diverticulitis with several out-pouchings at the level of the ascending colon and evidence of free air in the right parieto-colic gutter along with an air-fluid collection within the mesentery. In addition, a ring-shaped hyperdense intraluminal material was also noted. At surgery, the ascending colon appeared irregularly thickened and folded with a focal wall interruption and a peri-visceral abscess at the level of the hepatic flexure, but no diverticula were found. A right hemi-colectomy was performed and on dissection of the surgical specimen a retained laparotomy sponge was found in the bowel lumen.

  14. Differential expression of p53, p63 and p73 protein and mRNA for DMBA-induced hamster buccal-pouch squamous-cell carcinomas

    PubMed Central

    Chen, Yuk-Kwan; Huse, Shue-Sang; Lin, Li-Min

    2004-01-01

    Abnormalities in the p53 gene are regarded as the most consistent of the genetic abnormalities associated with oral squamous-cell carcinoma. Two related members of the p53 gene family, p73 and p63, have shown remarkable structural similarity to p53, suggesting possible functional and biological interactions. The purpose of this study was to investigate the differential expression of p73, p63 and p53 genes for DMBA-induced hamster buccal-pouch squamous-cell carcinoma. Immunohistochemical analysis for protein expression and reverse transcriptase-polymerase chain reaction (RT-PCR) for mRNA expression were performed for 40 samples of hamster buccal pouches, the total being separated into one experimental group (15-week DMBA-treated; 20 animals) and two control groups (untreated and mineral oil-treated; 10 animals each). Using immunohistochemical techniques, nuclear staining of p53 and p73 proteins was detected in a subset of hamster buccal-pouch tissue specimens treated with DMBA for a period of 15 weeks, whereas p63 proteins were noted for all of the 20 hamster buccal-pouch tissue specimens treated with DMBA for 15 weeks as well as for all of the untreated and mineral oil-treated hamster buccal-pouch tissue specimens. Differential expression of p63, p73 and p53 protein for the experimental group was as follows: p63+/p73+/p53+ (n = 14; 70%); p63+/p73+/p53− (n = 2; 10%); p63+/p73−/p53− (n = 4; 20%) and p63+/p73−/p53− (untreated [n = 10] and mineral oil-treated mucosa [n = 10]; 100% each). Upon RT-PCR, ΔNp63mRNA was detected within all of the 20 hamster buccal-pouch tissue specimens treated with DMBA for 15 weeks, whereas expression of TAp63 was not detected. Furthermore, p73 mRNA was identified for 16 of the hamster buccal-pouch tissue specimens treated with DMBA for 15 weeks, whereas p53 mRNA was noted for 14 15-week DMBA-treated pouches. The proportional (percentage) expression of ΔNp63, p73 and p53 mRNA for the hamster buccal-pouch tissue specimens

  15. [Congenital ranula in a newborn].

    PubMed

    Bernhard, M K; Hückel, D; Hamala, D

    2007-05-01

    Ranulas are cystic lesions in the floor of the mouth. They are either retention cysts of the excretory duct of the sublingual gland or pseudocysts formed by excretory duct rupture followed by extravasation and accumulation of mucus in the surrounding tissue. We report the case of a premature newborn with a congenital ranula in the floor of mouth. The ranula caused no discomfort or complications, so that immediate intervention was not necessary. The cyst resolved completely by the age of 4 months. Complications in newborns especially include airway obstruction and feeding difficulties. Surgical treatment options are needle aspiration, excision of the ranula, marsupialization, cryosurgery, and--in addition to excision of the cyst--removal of the ipsilateral sublingual gland. Sclerotherapy has shown good results as well. As many congenital cysts resolve or rupture spontaneously, they should be observed for potential resolution for several months in uncomplicated cases.

  16. Congenital syphilis: The continuing scourge

    PubMed Central

    Agrawal, Prachi G.; Joshi, Rajesh; Kharkar, Vidya D.; Bhaskar, M. V.

    2014-01-01

    Congenital syphilis is a severe, disabling infection that occurs due to the transmission of Treponema pallidum across the placenta during pregnancy or from contact with an infectious genital lesion during delivery. However, its early diagnosis is often difficult because more than half of the affected infants are asymptomatic, and the signs in symptomatic infants may be subtle and nonspecific. Although its incidence is declining, this long-forgotten disease continues to affect pregnant women, resulting in considerable perinatal morbidity and mortality. We hereby report a case of a 2-month-old infant with early congenital syphilis presenting with joint swellings and Parrot's pseudoparalysis, a comparative rarity in the present scenario. The report also stresses upon the importance of implementing the Centres for Disease Control and Prevention recommendation that all the pregnant women should be screened for syphilis in the first antenatal visit in the first trimester and again in late pregnancy. PMID:26396451

  17. Operative treatment of congenital torticollis.

    PubMed

    Shim, J S; Jang, H P

    2008-07-01

    There were 47 patients with congenital muscular torticollis who underwent operative release. After a mean follow-up of 74 months (60 to 90), they were divided into two groups, one aged one to four years (group 1) and the other aged five to 16 years (group 2). The outcomes were assessed by evaluating the following parameters: deficits of lateral flexion and rotation, craniofacial asymmetry, surgical scarring, residual contracture, subjective evaluation and degree of head tilt. The craniofacial asymmetry, residual contracture, subjective evaluation and overall scores were similar in both groups. However, group 2 showed superior results to group 1 in terms of the deficits of movement, surgical scarring and degree of head tilt. It is recommended that operative treatment for congenital muscular torticollis is postponed until the patient can comply successfully with post-operative bracing and an exercise programme.

  18. Genetics of Congenital Heart Disease

    PubMed Central

    Richards, Ashleigh A; Garg, Vidu

    2010-01-01

    Cardiovascular malformations are the most common type of birth defect and result in significant mortality worldwide. The etiology for the majority of these anomalies remains unknown but genetic factors are being recognized as playing an increasingly important role. Advances in our molecular understanding of normal heart development have led to the identification of numerous genes necessary for cardiac morphogenesis. This work has aided the discovery of an increasing number of monogenic causes of human cardiovascular malformations. More recently, studies have identified single nucleotide polymorphisms and submicroscopic copy number abnormalities as having a role in the pathogenesis of congenital heart disease. This review discusses these discoveries and summarizes our increasing understanding of the genetic basis of congenital heart disease. PMID:21532774

  19. Congenital heart disease in pregnancy.

    PubMed

    Swan, Lorna

    2014-05-01

    The story of congenital heart disease is one of the major successes of medicine in the last 50 years. Heart conditions previously associated with early death are now successfully treated. Many of these women are now in their child-bearing years wishing to have children of their own. All of these women should be offered comprehensive pre-conception counselling by a dedicated multi-disciplinary team. Each woman will present a unique set of cardiac and obstetric challenges that require an individualised assessment of risk and a carefully documented care plan. In this chapter, I describe the most common forms of congenital heart disease and the specific issues that should be assessed before conception. I present a systematic approach to risk stratification and care planning. These lesions range from mild disease with little implications for pregnancy to those with a sizable risk of maternal mortality or complications. I will also discuss fetal risk factors.

  20. Congenital myotonia in related kittens.

    PubMed

    Hickford, F H; Jones, B R; Gething, M A; Pack, R; Alley, M R

    1998-06-01

    Four closely related domestic shorthair kittens were investigated following the detection of abnormalities in their gait, difficulty opening their mouths and muscle hypertrophy. They walked with a stiff, stilted gait, with the stiffness reducing during exercise. Startling of the kittens resulted in hyperextension of the limbs and falling to lateral recumbency, or spasm of the orbicularis oculi muscle, prolonged prolapse of the nictitating membranes and flattening of the ears. One kitten was intermittently dysphonic. Endotracheal intubation of the anaesthetised kittens was difficult due to an inability to open the mouth to a wide angle, and narrowing of the glottis due to muscle spasm. A diagnosis of congenital myotonia was made based on the clinical signs, the kittens' ages, typical myotonic discharges on electromyography, and the histopathological and histochemical findings in muscle. This is the first report of congenital myotonia in this species.

  1. Classifying sex biased congenital anomalies

    SciTech Connect

    Lubinsky, M.S.

    1997-03-31

    The reasons for sex biases in congenital anomalies that arise before structural or hormonal dimorphisms are established has long been unclear. A review of such disorders shows that patterning and tissue anomalies are female biased, and structural findings are more common in males. This suggests different gender dependent susceptibilities to developmental disturbances, with female vulnerabilities focused on early blastogenesis/determination, while males are more likely to involve later organogenesis/morphogenesis. A dual origin for some anomalies explains paradoxical reductions of sex biases with greater severity (i.e., multiple rather than single malformations), presumably as more severe events increase the involvement of an otherwise minor process with opposite biases to those of the primary mechanism. The cause for these sex differences is unknown, but early dimorphisms, such as differences in growth or presence of H-Y antigen, may be responsible. This model provides a useful rationale for understanding and classifying sex-biased congenital anomalies. 42 refs., 7 tabs.

  2. [Radiological evaluation of congenital tumors].

    PubMed

    Aguado del Hoyo, A; Ruiz Martín, Y; Lancharro Zapata, Á; Marín Rodríguez, C; Gordillo Gutiérrez, I

    2015-01-01

    In this article, we consider tumors that are diagnosed during pregnancy or in the first three months of life. This is a heterogeneous group of neoplasms with special biological and epidemiological characteristics that differentiate them from tumors arising in children or adults. In the last two decades, the prenatal detection of congenital tumors has increased due to the generalized use of prenatal sonographic screening. Advances in imaging techniques, especially in fetal magnetic resonance imaging, have enabled improvements in the diagnosis, follow-up, clinical management, and perinatal treatment of these tumors. This image-based review of the most common congenital tumors describes their histologic types, locations, and characteristics on the different imaging techniques used.

  3. Laparoscopic Repair of Congenital Diaphragmatic Hernia in Adults

    PubMed Central

    Kumar, Satendra; Afaque, Yusuf; Bhartia, Abhishek Kumar; Bhartia, Vishnu Kumar

    2016-01-01

    Background, Aims, and Objectives. Congenital diaphragmatic hernia typically presents in childhood but in adults is extremely rare entity. Surgery is indicated for symptomatic and asymptomatic patients who are fit for surgery. It can be done by laparotomy, thoracotomy, thoracoscopy, or laparoscopy. With the advent of minimal access techniques, the open surgical repair for this hernia has decreased and results are comparable with early recovery and less hospital stay. The aim of this study is to establish that laparoscopic repair of congenital diaphragmatic hernia is a safe and effective modality of surgical treatment. Materials and Methods. A retrospective study of laparoscopic diaphragmatic hernia repair done during May 2011 to Oct 2014. Total n = 13 (M/F: 11/2) cases of confirmed diaphragmatic hernia on CT scan, 4 cases Bochdalek hernia (BH), 8 cases of left eventration of the diaphragm (ED), and one case of right-sided eventration of the diaphragm (ED) were included in the study. Largest defect found on the left side was 15 × 6 cm and on the right side it was 15 × 8 cm. Stomach, small intestine, transverse colon, and omentum were contents in the hernial sac. The contents were reduced with harmonic scalpel and thin sacs were usually excised. The eventration was plicated and hernial orifices were repaired with interrupted horizontal mattress sutures buttressed by Teflon pieces. A composite mesh was fixed with nonabsorbable tackers. All patients had good postoperative recovery and went home early with normal follow-up and were followed up for 2 years. Conclusion. The laparoscopic repair is a safe and effective modality of surgical treatment for congenital diaphragmatic hernia in experienced hands. PMID:28074156

  4. [Congenital heart diseases and sports].

    PubMed

    Martínez Quintana, E; Agredo Muñoz, J; Rodríguez González, F; Nieto Lago, V

    2008-04-01

    Congenital heart diseases are a frequent cause of cardiology consultation. New diagnostic and therapeutic techniques have allowed greater survival and quality of life of patients who wish to participate in sports. What they can do is not always easy to determine. Guidelines are helpful at the time of deciding, although finally is the doctor the one that must determine in each case the situation of the patient and the type of exercise they can do depending on the severity and type of cardiopathy.

  5. Congenital deficiency of factor VII.

    PubMed

    Sikka, M; Gomber, S; Madan, N; Rusia, U; Sharma, S

    1996-01-01

    A case of congenital factor VII deficiency in a five-year-old child is reported. The patient, born of a non-consanguineous marriage, presented with repeated bouts of epistaxis since childhood. The prothrombin time (PT) was markedly prolonged with a normal bleeding time (BT), partial thromboplastin time with Kaolin (PTTK) and platelet count. The patient has been on follow up for the last four years and is doing apparently well.

  6. Vestibular abnormalities in congenital disorders.

    PubMed

    Sando, I; Orita, Y; Miura, M; Balaban, C D

    2001-10-01

    This paper reviews the histopathologic features of vestibular abnormalities in congenital disorders affecting the inner ear, based upon a comprehensive literature survey and a review of cases in our temporal bone collection. The review proceeds in three systematic steps. First, we surveyed associated diseases with the major phenotypic features of congenital abnormalities of the inner ear (including the internal auditory canal and otic capsule). Second, the vestibular anomalies are examined specifically. Finally, the anomalies are discussed from a developmental perspective. Among vestibular anomalies, a hypoplastic endolymphatic duct and sac are observed most frequently. Anomalies of the semicircular canals are also often observed. From embryological and clinical viewpoints, many of these resemble the structural features from fetal stages and appear to be associated with vestibular dysfunction. It is expected that progress in genetic analysis and accumulation of temporal bone specimens with vestibular abnormalities in congenital diseases will provide crucial information not only for pathology of those diseases, but also for genetic factors that are responsible for the specific vestibular abnormalities.

  7. Pulmonary hypertension in congenital shunts.

    PubMed

    Beghetti, Maurice; Tissot, Cecile

    2010-10-01

    Pulmonary arterial hypertension frequently arises in patients with congenital heart disease. The vast majority present with congenital cardiac shunts. Initially these may manifest as left-to-right (i.e. systemic-to-pulmonary) shunts. The natural history of disease progression involves vascular remodeling and dysfunction that lead to increased pulmonary vascular resistance and, finally, to the development of Eisenmenger's syndrome, which is the most advanced form. The anatomical, pathological and structural abnormalities occurring in the pulmonary circulation of these patients are, to some extent, similar to those observed in other forms of pulmonary arterial hypertension. This understanding has recently led to significant changes in the management of Eisenmenger's syndrome, with the introduction of treatment specifically targeting pulmonary vascular disease. Early closure of the cardiac shunt remains the best way of preventing pulmonary vascular lesions. However, it is still not clear which preoperative parameters predict safe and successful repair, though hemodynamic evaluation is still routinely used for assessment. Postoperative pulmonary hypertension, both in the immediate period after surgical repair and during long-term follow-up, remains a real therapeutic challenge. The clinical situation of a single ventricle with Fontan circulation also presents difficulties when pulmonary vascular lesions are present. This article reviews pulmonary hypertension associated with congenital shunts and discusses a number of the specific problems encountered.

  8. Congenital Portosystemic Shunt: Our Experience

    PubMed Central

    Timpanaro, Tiziana; Passanisi, Stefano; Sauna, Alessandra; Trombatore, Claudia; Pennisi, Monica; Petrillo, Giuseppe; Smilari, Pierluigi; Greco, Filippo

    2015-01-01

    Introduction. Congenital portosystemic venous malformations are rare abnormalities in which the portal blood drains into a systemic vein and which are characterized by extreme clinical variability. Case Presentations. The authors present two case reports of a congenital extrahepatic portosystemic shunt (Type II). In the first patient, apparently nonspecific symptoms, such as headache and fatigue, proved to be secondary to hypoglycemic episodes related to the presence of a portosystemic shunt, later confirmed on imaging. During portal vein angiography, endovascular embolization of the portocaval fistula achieved occlusion of the anomalous venous tract. In the second patient, affected by Down's syndrome, the diagnosis of a portosystemic malformation was made by routine ultrasonography, performed to rule out concurrent congenital anomalies. Because of the absence of symptoms, we chose to observe this patient. Conclusions. These two case reports demonstrate the clinical heterogeneity of this malformation and the need for a multidisciplinary approach. As part of a proper workup, clinical evaluation must always be followed by radiographic diagnosis. PMID:25709849

  9. Colonic intussusception in descending colon: An unusual presentation of colon lipoma

    PubMed Central

    Bagherzadeh Saba, Reza; Sadeghi, Amir; Rad, Neda; Safari, Mohammad Taghi; Barzegar, Farnoush

    2016-01-01

    Lipomas of the colon are relatively rare benign soft tissue tumors derived from mature adipocytes of mesenchymatic origin. During colonoscopy, surgery or autopsy they are generally discovered incidentally. Most cases are asymptomatic, with a small tumor size, and do not need any special treatment. However, in the cases with larger in size of tumor some symptoms such as anemia, abdominal pain, constipation, diarrhea, bleeding, or intussusception may be presented. We reported a 47-year-old woman with colonic intussusception in the descending colon caused by colonic lipoma and diagnosed after surgical exploration for obstructive colonic mass. PMID:28224035

  10. Difficult colon polypectomy

    PubMed Central

    Vormbrock, Klaus; Mönkemüller, Klaus

    2012-01-01

    Colorectal cancer (CRC) is one of the leading causes of death from cancer in the world. We now know that 90% of CRC develop from adenomatous polyps. Polypectomy of colon adenomas leads to a significant reduction in the incidence of CRC. At present most of the polyps are removed endoscopically. The vast majority of colorectal polyps identified at colonoscopy are small and do not pose a significant challenge for resection to an appropriately trained and skilled endoscopist. Advanced polypectomy techniques are intended for the removal of difficult colon polyps. We have defined a “difficult polyp” as any lesion that due to its size, shape or location represents a challenge for the colonoscopist to remove. Although many “difficult polyps” will be an easy target for the advanced endoscopist, polyps that are larger than 15 mm, have a large pedicle, are flat and extended, are difficult to see or are located in the cecum or any angulated portion of the colon should be always considered difficult. Although very successful, advanced resection techniques can potentially cause serious, even life-threatening complications. Moreover, post polypectomy complications are more common in the presence of difficult polyps. Therefore, any endoscopist attempting advanced polypectomy techniques should be adequately supervised by an expert or have an excellent training in interventional endoscopy. This review describes several useful tips and tricks to deal with difficult polyps. PMID:22816006

  11. [Congenital retinal folds in different clinical cases].

    PubMed

    Munteanu, M

    2005-01-01

    We present 12 clinical cases of congenital retinal folds with different etiologies: posterior primitive vitreous persistency and hyperplasia (7 cases),retinocytoma (1 case). retinopathy of prematurity (1 case), astrocytoma of the retina (1 case), retinal vasculitis (1 case), Goldmann-Favre syndrome (1 case). Etiopathogenic and nosological aspects are discussed; the congenital retinal folds are interpreted as a symptom in a context of a congenital or acquired vitreo-retinal pathology.

  12. Role of the Chinese Herbal Medicine Xianhuayin on the Reversal of Premalignant Mucosal Lesions in the Golden Hamster Buccal Pouch

    PubMed Central

    Xu, Yan-zhi; Qiu, Yong-le; An, Zhi-guang; Yang, Feng-ying

    2010-01-01

    Aim To investigate the role of the Chinese herbal medicine Xianhuayin on the reversal of 7,12-dimethylbenz[a]anthracene (DMBA)-induced premalignant mucosal lesions in the oral buccal pouch of golden hamsters. Methodology The animals were randomly divided into a non-diseased control group (n=5) and an experimental group including 50 animals in which the buccal mucosa had been painted with DMBA (0.5% in acetone) to generate an oral mucosa premalignant lesion. Animals in the experimental group were further divided into Xianhuayin-treated group (n=30), untreated premalignant lesion group (n=10) and normal saline (NS)-treated group (n=10). The cheek (buccal) pouch mucosa of the golden hamsters in each group was observed with light and electron microscopy eight weeks after intragastric administration with NS or Xianhuayin. Results In the non-diseased control group, the buccal mucosa was keratinized and stratified squamous epithelium under a light microscope. In the untreated premalignant lesion group, variable degrees of epithelial dysplasia was observed. The irregular epithelial mucosa gradually became distinct in the Xianhuayin-treated group. Scanning electronic microscopic (SEM) analysis showed that surface of the cells exhibited honeycomb structures in the hamster of untreated-group. The cells were morphologically irregular, overlapped and loosened in the untreated premalignant lesion group. Most of the cell surface exhibited honeycomb structure in the Xianhuayin-treated group. Transmission electronic microscopic (TEM) analysis showed that buccal mucosal epithelial cells were morphologically regular in the non-diseased control group. Desmosomes and tonofibrils were reduced and the nucleus was morphologically irregular in the untreated premalignant lesion group. In the Xianhuayin-treated group, the widening intercellular gap was gradually reduced, desmosomes and the cells becoming morphologically regular. No significant difference was observed between the hamsters in

  13. Genetics Home Reference: nonbullous congenital ichthyosiform erythroderma

    MedlinePlus

    ... Metabolic Diseases Foundation for Ichthyosis and Related Skin Types (FIRST): Congenital Ichthyosiform Erythroderma National Organization for Rare Disorders (NORD): Ichthyosis University of Kansas ...

  14. The changing epidemiology of congenital heart disease.

    PubMed

    van der Bom, Teun; Zomer, A Carla; Zwinderman, Aeilko H; Meijboom, Folkert J; Bouma, Berto J; Mulder, Barbara J M

    2011-01-01

    Congenital heart disease is the most common congenital disorder in newborns. Advances in cardiovascular medicine and surgery have enabled most patients to reach adulthood. Unfortunately, prolonged survival has been achieved at a cost, as many patients suffer late complications, of which heart failure and arrhythmias are the most prominent. Accordingly, these patients need frequent follow-up by physicians with specific knowledge in the field of congenital heart disease. However, planning of care for this population is difficult, because the number of patients currently living with congenital heart disease is difficult to measure. Birth prevalence estimates vary widely according to different studies, and survival rates have not been well recorded. Consequently, the prevalence of congenital heart disease is unclear, with estimates exceeding the number of patients currently seen in cardiology clinics. New developments continue to influence the size of the population of patients with congenital heart disease. Prenatal screening has led to increased rates of termination of pregnancy. Improved management of complications has changed the time and mode of death caused by congenital heart disease. Several genetic and environmental factors have been shown to be involved in the etiology of congenital heart disease, although this knowledge has not yet led to the implementation of preventative measures. In this Review, we give an overview of the etiology, birth prevalence, current prevalence, mortality, and complications of congenital heart disease.

  15. History of the Congenital Heart Surgeons' Society.

    PubMed

    Mavroudis, Constantine; Williams, William G

    2015-10-01

    The Congenital Heart Surgeons' Society is a group of over 100 pediatric heart surgeons representing 72 institutions that specialize in the treatment of patients with congenital heart defects. The Society began in 1972 and incorporated as a not-for-profit charitable organization in 2004. It has become the face and voice of congenital heart surgery in North America. In 1985, the Society established a data center for multicenter clinical research studies to encourage congenital heart professionals to participate in improving outcomes for our patients. The goals of the Congenital Heart Surgeons' Society are to stimulate the study of congenital cardiac physiology, pathology, and management options which are instantiated in data collection, multi-institutional studies, and scientific meetings. Honest and open discussion of problems with possible solutions to the challenges facing congenital heart professionals have been the strength of the Congenital Heart Surgeons' Society. It is imperative for the growth of an organization to know from where it came in order to know to where it is going. The purpose of this article is to review the history of the Congenital Heart Surgeons' Society.

  16. Genetics Home Reference: nonsyndromic congenital nail disorder 10

    MedlinePlus

    ... congenital nail disorder 10 nonsyndromic congenital nail disorder 10 Enable Javascript to view the expand/collapse boxes. ... All Close All Description Nonsyndromic congenital nail disorder 10 is a condition that affects the fingernails and ...

  17. Dysphagia caused by focal guttural pouch mycosis: mononeuropathy of the pharyngeal ramus of the vagal nerve in a 20-year-old pony mare

    PubMed Central

    2013-01-01

    A 20-year-old pony mare was presented to the equine hospital with a ten-day history of dysphagia, regurgitation and coughing. An obstruction of the oesophagus was excluded via endoscopy, but the proximal oesophagus appeared to be distended and circular contractions were missing. A guttural pouch endoscopy revealed a single, black-mottled plaque on the pharyngeal ramus of the vagus nerve in the left guttural pouch, causing a local swelling of this nerve. The pharyngeal ramus seemed to be atrophic distal to the lesion. A biopsy was taken from the lesion and histopathological findings proved the reasonable suspicion of a guttural pouch mycosis with a high degree of purulent-necrotic inflammation and invasion of fungal hyphae. There were no signs of neoplasia, such as melanoma. Daily guttural pouch irrigations with a clotrimazole emulsion (20 g Canesten® Gyn4 solved in 500 ml water), led to a good recovery of the mucosa above the nerve. Periodic endoscopic examination of the left guttural pouch showed that local thickening and distal atrophy of this pharyngeal ramus did not improve, neither did the clinical symptoms. Due to progressive weight loss, acute respiratory distress and aspiration pneumonia, the 20-year-old pony mare unfortunately had to be euthanized three weeks after discharge. This case report emphasizes the enormous importance of a single nerve for the realization of the swallowing process. The one-sided loss of function of the pharyngeal branch of the vagal nerve cannot be compensated neither by the remaining ipsilateral nerves nor by the contralateral normal functioning glossopharyngeal and vagal nerves and thus inevitably leads to severe dysphagia. PMID:23845027

  18. Associated noncardiac congenital anomalies among cases with congenital heart defects.

    PubMed

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

    2015-02-01

    Cases with congenital heart defects (CHD) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CHD in a defined population. The anomalies associated with CHD were collected in all live births, stillbirths and terminations of pregnancy during 26 years in 346,831 consecutive pregnancies of known outcome in the area covered by our population based registry of congenital anomalies. Of the 4005 cases with CHD born during this period (total prevalence of 115.5 per 10,000), 1055 (26.3%) had associated major anomalies. There were 354 (8.8%) cases with chromosomal abnormalities including 218 trisomies 21, and 99 (2.5%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VACTERL association. However, other recognized dysmorphic conditions were registered including Noonan syndrome, fetal alcohol syndrome, and skeletal dysplasias. Six hundred and two (15.0%) of the cases had non syndromic, non chromosomal multiple congenital anomalies (MCA). Anomalies in the urinary tract, the musculoskeletal, the digestive, and the central nervous systems were the most common other anomalies. Prenatal diagnosis was obtained in 18.7% of the pregnancies. In conclusion the overall prevalence of associated anomalies, which was one in four infants, emphasizes the need for a thorough investigation of cases with CHD. A routine screening for other anomalies may be considered in infants and in fetuses with CHD. One should be aware that the anomalies associated with CHD can be classified into a recognizable anomaly, syndrome or pattern in one out of nine cases with CHD.

  19. Cytotoxicity of liposomal α-tocopheryl succinate towards hamster cheek pouch carcinoma (HCPC-1) cells in culture

    PubMed Central

    Gu, Xinbin; Schwartz, Joel L.; Pang, Xiaowu; Zhou, Yanfei; Sirois, David A.; Sridhar, Rajagopalan

    2007-01-01

    There is compelling evidence for the cancer chemopreventive effects of vitamin E and related compounds. Of all the vitamin E derivatives that have been investigated to date, vitamin E acid succinate is the most effective anti-cancer agent. This report describes the preparation and testing of liposomal formulation of mono α-tocopheryl ester of succinic acid (α-TOS) for cytotoxicity against hamster cheek pouch carcinoma cell line (HCPC-1). Small unilamellar vesicles (SUV) of phosphatidylcholine incorporating 70 μM α-TOS were superior to α-TOS alone or SUV without incorporated α-TOS, as inducers of apoptosis in HCPC-1 cells. Liposomal α-TOS perturbed the lipid structure in cells, promoted apoptosis, and decreased cell viability. The mechanism of action of α-TOS appears to involve membrane damage and induction of ceramide mediated apoptosis. PMID:16271438

  20. Prospective radionuclide renal function evaluation and its correlation with radiological findings in patients with Kock pouch urinary diversion

    SciTech Connect

    Chen, K.K.; Chang, L.S.; Chen, M.T.; Yeh, S.H. )

    1991-05-01

    In an attempt to understand better the status of renal function after Kock pouch urinary diversion we conducted a prospective evaluation of renal function in 25 patients using the radionuclide 131iodine-hippurate. Studies were done before, and at 1 month and every 6 months for 30 months postoperatively. The radionuclide results were then compared to excretory urography and contrast study of the reservoir. Our renal function study included the determination of individual and total effective renal plasma flow (ml. per minute), the time to maximal radioactivity over the kidney (peak time in minutes) and a renogram. The mean total (both kidneys) effective renal plasma flow rates before (25 patients) and at month 1 (19), month 6 (14), month 12 (12), month 18 (6), month 24 (6) and month 30 (7) after operation were 385.5 +/- 112.2, 310.5 +/- 109.9, 362.7 +/- 69.2, 442.0 +/- 97.5, 468.2 +/- 82.5, 405.7 +/- 70.6 and 414.0 +/- 65.1, respectively. A comparison of individual and total effective renal plasma flow before and after operation revealed that only the change of the flow at each or both sides of the kidney before and at 1 month after the operation reached statistically significant differences, respectively (p less than 0.05, paired t test). Postoperatively 5 of 6 patients with hydronephrosis had abnormal peak time and a third segment on the renogram was performed on the corresponding side of the kidney. No reflux was noted on contrast study of the reservoir of any patient followed for up to 30 months. In conclusion, the radionuclide renal function evaluation showed a significant decrease of renal function 1 month after Kock pouch diversion, then it resumed and remained stable (neither improved nor deteriorated) for 30 months. Also the abnormal peak time and third segment on the renogram usually implicated a dilated upper urinary tract.

  1. Development and verification of a mouse model for Roux-en-Y gastric bypass surgery with a small gastric pouch.

    PubMed

    Hao, Zheng; Zhao, Zhiyun; Berthoud, Hans-Rudolf; Ye, Jianping

    2013-01-01

    Existing mouse models of Roux-en-Y gastric bypass (RYGB) surgery are not comparable to human RYGB in gastric pouch volume for a large or absent gastric volume. The aim of this study was to develop and characterize a mouse RYGB model that closely replicates gastric pouch size of human RYGB surgery of about 5% of total gastric volume. We established this model in diet-induced obese (DIO) mice of C57BL/6J. This surgery resulted in a sustained 30% weight loss, entirely accounted for by decreased fat mass but not lean mass, compared to sham-operated mice on the high fat diet. Compared to sham-operated mice, energy expenditure corrected for total body weight was significantly increased by about 25%, and substrate utilization was shifted toward higher carbohydrate utilization at 8 weeks after RYGB when body weight had stabilized at the lower level. The energy expenditure persisted and carbohydrate utilization was even more pronounced when the mice were fed chow diet. Although significantly increased during daytime, overall locomotor activity was not significantly different. In response to cold exposure, RYGB mice exhibited an improved capacity to maintain the body temperature. In insulin tolerance test, exogenous insulin-induced suppression of plasma glucose levels was significantly greater in RYGB mice at 4 weeks after surgery. Paradoxically, food intake measured at 5 weeks after surgery was significantly increased, possibly in compensation for increased fecal energy loss and energy expenditure. In conclusion, this new model is a viable alternative to existing murine RYGB models and the model matches human RYGB surgery in anatomy. This model will be useful for studying molecular mechanisms involved in the beneficial effects of RYGB on body weight and glucose homeostasis.

  2. Fungal infection of the colon

    PubMed Central

    Praneenararat, Surat

    2014-01-01

    Fungi are pathogens that commonly infect immunocompromised patients and can affect any organs of the body, including the colon. However, the literature provides limited details on colonic infections caused by fungi. This article is an intensive review of information available on the fungi that can cause colon infections. It uses a comparative style so that its conclusions may be accessible for clinical application. PMID:25364269

  3. Advances in colon cancer.

    PubMed

    Levin, Mark

    2003-06-01

    From May 29 to June 5, 2003, the American Society of Clinical Oncology held its 39th Annual Meeting in Chicago, Illinois, U.S.A. The meeting was devoted to the presentation of advances in clinical sciences, diagnosis, prevention and management of malignant disorders, and brings together investigators, clinicians, policy makers and other professionals interested in the science and impact of cancer worldwide. This report will be presented in two parts, the first focusing of colon cancer, and the second on breast cancer will be published in the next issue of Drug News & Perspectives.

  4. A Case Series: Congenital Hyperinsulinism

    PubMed Central

    Alaei, Mohammad Reza; Akbaroghli, Susan; Keramatipour, Mohammad; Alaei, Ali

    2016-01-01

    Introduction Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell’s function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism. Mutations in ABCC8 gene are the most common cause of the disease that account for approximately 40% of cases. Less frequently KCNJ11 gene mutations are responsible for the disease. Mutations in other genes such as HADH account for smaller fractions of cases. In nearly half of the cases the cause remains unknown. Case Presentation During the period between 2005 and 2010, a total of six patients with persistent hyperinsulinism were investigated at Mofid Children’s Hospital. In this study all of the patients had early onset hyperinsulinemia. Five patients had consanguineous parents. After failure of medical treatment in three patients, They were undergone pancreatectomy. Two diffuse types and one focal type had been recognized in pathological analysis of intra-operative frozen specimens of pancreas in these patients. Genetic analysis was performed using polymerase chain reaction followed by Sanger sequencing for ABCC8, KCNJ11and HADH genes. In five patients homozygous mutations in these genes were identified that indicated an autosomal recessive pattern of inheritance. In one patient a heterozygous mutation in ABCC8 was identified, indicating possible autosomal dominant inheritance of the disease. Conclusions Congenital hyperinsulinism can have different inheritance pattern. Autosomal recessive inheritance is more common but less frequently autosomal dominant inheritance can be seen. It appears that mutations in ABCC8 gene can show both autosomal recessive and autosomal dominant inheritance of the disease. PCR followed by Sanger sequencing proved to be an efficient method for mutation detection in three investigated genes

  5. Immunohistochemical study of congenital gingival granular cell tumor (congenital epulis).

    PubMed

    Takahashi, H; Fujita, S; Satoh, H; Okabe, H

    1990-11-01

    The congenital gingival granular cell tumor (CGGT) or congenital epulis is a rare lesion of unknown origin found only in newborn infants. The tumor consists mainly of large eosinophilic granular cells arranged in solid nests that are separated by thin fibrovascular areas. In addition, there are some spindle-shaped cells and medium-sized polygonal cells (so-called interstitial cells) among the neoplastic granular cells. Three CGGTs were investigated with a panel of poly- and monoclonal antibodies, using immunoperoxidase methods on formalin fixed paraffin embedded sections. Neoplastic granular cells of these three cases show cytoplasmic staining for neuron-specific enolase (NSE) and vimentin. However, all other reactions were negative. Our results suggest that the lesion may be derived from uncommitted nerve-related mesenchymal cells. On the other hand, interstitial cells show strong S-100 protein-, cytokeratin-, vimentin-, and NSE-immunostainings, and these cells are consistent with neuroendocrine nature. The presence of a biphasic cell population with granular cells and interstitial cells must be considered the main immunohistochemical feature.

  6. Congenital dystrophic medial rectus muscles

    PubMed Central

    Murthy, Ramesh

    2017-01-01

    We report two patients, one with congenital dystrophic medial rectus muscles and one with absence of the medial rectus muscles; in addition, one of them had absence of the lateral rectus muscles. While absence of the superior oblique and superior rectus has been more commonly reported in literature, especially with craniofacial syndromes, our patients were nonsyndromic. Considering the risk of anterior segment ischemia, correction of the large-angle exotropia was performed by horizontal rectus muscle surgery where possible, along with transfer of the superior oblique tendon to the superior part of the normal medial rectus muscle insertion area to create a tethering effect with a good outcome. PMID:28300745

  7. CONGENITAL PSEUDARTHROSIS OF THE CLAVICLE

    PubMed Central

    de Figueiredo, Marina Juliana Pita Sassioto Silveira; dos Reis Braga, Susana; Akkari, Miguel; Prado, José Carlos Lopes; Santili, Cláudio

    2015-01-01

    Congenital pseudarthrosis of the clavicle (PCC) is a rare affection, that can be diagnosed at birth and represent a disturbance of union of the ossification centers. It's more common in girls and in the right side. This study objectives to proceed a revision about the subject, that was searched in online database of LILACS and MEDLINE. We found 56 articles till present data. Besides be a bit infrequent, the PCC must not be missed or even forgotten, especially as differential diagnosis with acute fracture of the clavicle at birth by trauma in the childbirth. The diagnostic is relatively easy and the treatment can be just observation or even surgical. PMID:27047839

  8. Laboratory Diagnosis of Congenital Toxoplasmosis

    PubMed Central

    Pomares, Christelle

    2016-01-01

    Recent studies have demonstrated that screening and treatment for toxoplasmosis during gestation result in a decrease of vertical transmission and clinical sequelae. Early treatment was associated with improved outcomes. Thus, laboratory methods should aim for early identification of infants with congenital toxoplasmosis (CT). Diagnostic approaches should include, at least, detection of Toxoplasma IgG, IgM, and IgA and a comprehensive review of maternal history, including the gestational age at which the mother was infected and treatment. Here, we review laboratory methods for the diagnosis of CT, with emphasis on serological tools. A diagnostic algorithm that takes into account maternal history is presented. PMID:27147724

  9. Short stature with congenital ichthyosis.

    PubMed

    Lakhani, Som J; Lakhani, Om J

    2015-12-09

    PIBIDS syndrome (photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature) is a variant of trichothiodystrophy. It is a rare form of autosomal recessive congenital ichthyosis. Short stature is a vital component of PIBIDS syndrome. We present the cases of two siblings in whom we diagnosed PIBIDS syndrome. On evaluation for short stature, they were found to have severe vitamin D deficiency, which on correction led to the patients having considerable gain in stature. With this case, we would also like to propose that vitamin D deficiency could be one of the treatable causes of short stature in PIBIDS syndrome.

  10. Purpura-associated congenital lymphedema.

    PubMed

    Berti, Samantha; Pieri, Alessandro; Lotti, Torello; Duranti, Alberto; Panelos, John; De Martino, Maurizio; Moretti, Silvia

    2009-01-01

    An 8-year-old girl referred to our Department for a two-month worsening of congenital primary lymphedema of the lower limb and for the appearance of several purpuric lesions on the right thigh and knee. We diagnosed a lichenoid pigmented purpura of Gougerot and Blum in a patient with Milroy disease, complicated by an insufficiency of anterior saphena. We treated the patient with topical steroids and compression stockings, until surgical intervention of phlebectomy. We report this case for the rarity of the disease, for the even more rare association with lichenoid pigmented purpura and for cutaneous immunopathological findings.

  11. Genetics Home Reference: congenital central hypoventilation syndrome

    MedlinePlus

    ... on PubMed Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B ... Abara SG, Zhou L, Berry-Kravis EM, Rand CM, Weese-Mayer DE. Later-onset congenital central hypoventilation ...

  12. Congenital psoriasis: case report and literature review.

    PubMed

    Lehman, Julia S; Rahil, Anudeep K

    2008-01-01

    While childhood psoriasis is fairly common, congenital psoriasis appears to be rare and has not been well characterized. We present a patient with histologically confirmed congenital psoriasis. By reviewing the literature, we aim to both define this disease and compare it to infantile and childhood psoriasis. Electronic searches found articles reporting patients with biopsy-proven congenital psoriasis. We recorded clinical features, such as family history, anatomic involvement, and disease severity. We compared these data with previous descriptions of infantile and childhood psoriasis. We included nine patients with congenital psoriasis in our analysis. No patient had a first-degree family history of psoriasis. While the face, scalp, chest, and trunk were frequently involved, the buttocks generally were spared. Several patients had persistent disease despite therapy. In this series, congenital psoriasis differed from infantile and childhood psoriasis in several respects. Specifically, congenital psoriasis was associated with a lower prevalence of relevant family history, which could increase over time, and a different pattern of anatomic involvement, which may reflect exposure to age-associated environmental factors. Although several patients with congenital psoriasis had severe disease, this likely represents publication bias. Additional reports of congenital psoriasis with extended follow-up are needed to better characterize this condition.

  13. Macular colobomas in Leber's congenital amaurosis.

    PubMed

    Margolis, S; Scher, B M; Carr, R E

    1977-01-01

    Two siblings with Leber's congenital amaurosis had the unusual association of bilateral macular colobomas. In addition to the colobomas, the patients also had deafmutism, severe myopia, large corneas, and an unusual discrete area of peripapillary tapetoretinal sheen. Electrodiagnostic evaluation of patients with congenitally poor visual ascuity and a central retinal defect differentiated a localized loss of funciton from a degeneration involving the entire retina.

  14. A case and review of congenital leukonychia.

    PubMed

    Pathipati, Akhilesh S; Ko, Justin M; Yost, John M

    2016-10-15

    Leukonychia refers to a white discoloration of the nails. Although several conditions may cause white nails, a rare, isolated, congenital form of the disease is hypothesized to stem from disordered keratinization of the nail plate. Herein, we report a case of a 41-year-old woman with congenital leukonychia and review prior cases.

  15. Pathways to Colonization

    NASA Technical Reports Server (NTRS)

    Smitherman, David V., Jr.

    2003-01-01

    The steps required for space colonization are many to grow from our current 3-person International Space Station, now under construction, to an infrastructure that can support hundreds and eventually thousands of people in space. This paper will summarize the author's findings from numerous studies and workshops on related subjects and identify some of the critical next steps toward space colonization. Findings will be drawn from the author s previous work on space colony design, space infrastructure workshops, and various studies that addressed space policy. In conclusion, this paper will note that significant progress has been made on space facility construction through the International Space Station program, and that significant efforts are needed in the development of new reusable Earth to Orbit transportation systems. The next key steps will include reusable in space transportation systems supported by in space propellant depots, the continued development of inflatable habitat and space elevator technologies, and the resolution of policy issues that will establish a future vision for space development.

  16. Hereditary congenital unilateral deafness: a new disorder?

    PubMed

    Dikkers, Frederik G; Verheij, Joke B G M; van Mechelen, Monique

    2005-04-01

    Congenital unilateral deafness is a rare disorder. The prevalence rates are unknown. The prevalence of children with severe to profound hearing losses that are congenital (or acquired before the development of speech and language) is 0.5 to 3 per 1,000 live births. Evidently, congenital unilateral deafness must have a lower prevalence. The purpose of this research was to present a new disorder, hereditary congenital unilateral deafness. A pedigree is presented in which both male and female members display symptoms of congenital unilateral deafness. Two affected persons and a normal-hearing member of the family have vestibular abnormalities without dysequilibrium. The inheritance pattern of this new syndrome is not clear. We hypothesize that the disorder might be new. A family like this has never before been presented in the medical literature.

  17. The transport of colonic contents in the irritable colon syndrome.

    PubMed

    Ritchie, J A

    1970-08-01

    The mean distance of travel and hourly incidence of propulsive and retropulsive movements of colonic contents have been assessed by means of time-lapse cinefluorography and compared in 98 patients with the irritable colon syndrome and in 90 control subjects.Net propulsion in patients with the irritable colon syndrome was less than in the controls at rest, similar to the controls after feeding, and greater than in the controls after an injection of carbachol. In both clinical groups, food and carbachol increased the incidence of propulsive and retropulsive movements but did not alter the average distance over which they travelled.The figures suggest that at least two-thirds of all net propulsion of colonic contents in the irritable colon syndrome takes place under circumstances not reproduced in the present study.

  18. Congenital PCB poisoning: a reevaluation

    SciTech Connect

    Miller, R.W.

    1985-05-01

    A review of the literature reveals a need to clarify the pathologic physiology of congenital polychlorinated biphenyl (PCB) poisoning, which is characterized by intrauterine growth retardation, brown staining of the skin and mucous membranes as in Addison's disease, natal teeth, widely open fontanelles and sagittal suture and apparent overgrowth of the gingiva. The skull abnormalities may represent irregular calcification, with natal teeth appearing because the bone of the mandible is penetrated more easily than usual. Some fetuses were poisoned at the time the mothers ingested the oil; others were affected in the subsequent years from residual contamination in the mothers' bodies. The misadventure in Japan was repeated in Taiwan in 1979. The seven congenital cases in Taiwan reported thus far seem to differ from those in Japan. In Taiwan the noses were somewhat black, two of the infants did not have low birth weight and the osseous abnormalities of the skull and gingival hyperplasia were not observed. Systematic followup studies should be made in Taiwan of the children born within 2 years of maternal poisoning with PCBs. Special attention should be given to age at first dentition and skull-X-rays for spotty calcification, among other measures of physical, neurologic and intellectual development.

  19. Cystic lumphangioma of the colon

    SciTech Connect

    Agha, F.P.; Francis, I.R.; Simms, S.M.

    1983-10-01

    Cystic lymphangioma is a rare benign lesion of the gastrointestinal tract, in which the colon is the least frequntly involved site. A case is reported displaying the characteristic radiographic features of an extramucosal intramural mass lesion in a patient with concurrent cystadenocarcinoma of the pancreas, in whom the possibility of a metastatic lesion to the colon could not be excluded except by surgical resection.

  20. Norrbottnian congenital insensitivity to pain.

    PubMed

    Minde, Jan K

    2006-04-01

    Congenital insensitivity to pain is a rare hereditary neuropathy. We present patients from a large family in Norrbotten, Sweden with a mutation in the nerve growth factor beta gene (NGFbeta). Using a model of recessive inheritance, we identified an 8.3-Mb region on chromosome 1p11.2-p13.2 shared by the affected individuals in the family. Analysis of candidate genes in the disease-critical region revealed a mutation in the coding region of the NGFbeta gene specific for the disease haplotype. All three severely affected individuals were homozygous for the mutation. The disease haplotype was also observed in both unaffected and mildly affected family members, but in heterozygote form. We have identified 43 patients, 3 homozygous and 40 heterozygous. The homozygous patients have a severe congenital form with onset of symptoms at an early age, most often affecting the lower extremities with insidious progressive joint swellings or painless fractures. Fracture healing was normal, but the arthropathy was progressive, resulting in disabling Charcot joints with gross deformity and instability. These patients lacked deep pain perception in bones and joints and had no protective reflexes, leading to gross bone and joint complications. They also had abnormal temperature perception but normal ability to sweat. There was no mental retardation. Clinically, they fit best into the group HSAN type V. Sural nerve biopsies showed a moderate loss of thin myelinated fibers (Adelta-fibers) and a severe reduction of unmyelinated fibers (C-fibers). 14 of the 40 heterozygous adult patients had mild or moderate problems with joint deformities, usually with only slight discomfort. Treatment was conservative with (if needed) different kinds of orthosis and in three cases joint replacement. Nine patients had neuropathy, and nine patients had no symptoms. In congenital disorders like these, it is important to evaluate the age and also the slowly progressive nature, when considering treatment

  1. [Colon cancer after colon interposition for oesophageal replacement].

    PubMed

    Sikorszki, László; Horváth, Ors Péter; Papp, András; Cseke, László; Pavlovics, Gábor

    2010-08-01

    The authors report the case of a colon adenocarcinoma developed on the neck at the anastomosis of the skin tube and colon 44 years following a corrosive oesophageal injury. This patient suffered a moderately severe oesophageal, stomach and laryngeal injuries due to drinking hydrochloric acid 44 years ago. He underwent serial laryngoplasties, then needed a tracheostomy, oesophagectomy, pyloroplasty and ileocolon transposition. An antethoracal oesophagus formation was performed with ileocolon and skin tube amendment. 44 years later an ulcerated adenocarcinoma developed in the transposed colon, which was resected and the ability to swallow was reinstated by the transplantation of an isolated jejunal segment using microvascular anastomosis.

  2. Large bimedial rectus recessions in congenital esotropia.

    PubMed Central

    Szmyd, S. M.; Nelson, L. B.; Calhoun, J. H.; Spratt, C.

    1985-01-01

    The success rate of large (6 and 7 mm) bimedial rectus recessions in 45 congenital esotropes with deviations of 50 prism dioptres or greater was found to be 91%. Judgment of final alignment was made six weeks postoperatively, with an average follow-up of 13 months. Large bimedial rectus recessions are an effective surgical treatment for congenital esotropia. This procedure does not significantly alter adduction, and leaves other muscles available should further surgery be necessary. These findings show that initial surgery on three or more muscles is unnecessary in congenital esotropia. PMID:3994944

  3. Public health research in congenital heart disease.

    PubMed

    Lara, Diego A; Lopez, Keila N

    2014-01-01

    Public health research is an integral part of the study of congenital heart disease. While this type of research has become more popular, particularly over the past decade, it has a history that stretches back to almost the beginnings of pediatric cardiology as a field. This review aims to introduce the concepts and methodologies of public health and how they relate to congenital heart disease, describe some of the challenges of traditional research methods in congenital heart disease, describe the history of public health research, and demonstrate the relevance of public health research, particularly databases, to pediatric cardiology fellows.

  4. High hyperopia in Leber's congenital amaurosis.

    PubMed

    Wagner, R S; Caputo, A R; Nelson, L B; Zanoni, D

    1985-10-01

    Few studies comment on the type of refractive errors found in patients with Leber's congenital amaurosis. The association of an uncomplicated infantile form of this condition with high hyperopia but without systemic complications has been suggested. In a retrospective study, we identified 11 patients who satisfied the criteria for the diagnosis of this subtype of Leber's congenital amaurosis. All of our cases were found to have at least +6.00 diopters of hyperopia on cycloplegic refraction. No systemic abnormalities were found in any of these children. We suggest that high hyperopia be included in the diagnostic criteria of this specific form of Leber's congenital amaurosis.

  5. Hyperopia in complicated Leber's congenital amaurosis.

    PubMed

    Dagi, L R; Leys, M J; Hansen, R M; Fulton, A B

    1990-05-01

    We studied the refractive status of 13 children with Leber's congenital amaurosis. Seven had the disease complicated by neurological or other systemic abnormalities, while the other 6 patients had only ophthalmic abnormalities. All 13 patients were hyperopic. The magnitude of hyperopia did not differ significantly between the complicated and uncomplicated groups. Therefore, one cannot, as previously suggested, use the presence of high hyperopia to differentiate an uncomplicated form of Leber's congenital amaurosis from one complicated by neurologic or other systemic abnormalities. The concurrence of hyperopia with Leber's congenital amaurosis should not steer the physician away from careful neurologic systemic or biochemical evaluation of the child.

  6. [Congenital hepatic fibrosis: apropos of 12 cases].

    PubMed

    Murga, M L; Jara, P; Díaz, M C; de la Rubia, L; Arroba, M L; Larrauri, J; Vázquez, C

    1988-02-01

    Twelve patients with congenital hepatic fibrosis have been retrospectively studied and followed for 1 to 14 years. Clinical features, hepatic function tests and biopsy have been analyzed. Presence of portal hypertension and congenital malformation have been investigated. Clinical presentations varies from newborn to nine years of age without male or female predominance. Most frequent clinical form has been hypertensive type. Cholangitic type has worse prognosis. Familiar recurrence rate is 20%. Congenital malformations are associated in 92% most frequently infantile polycystic kidney disease. Hepatic biopsy has confirmed diagnosis in all patients.

  7. Unilateral straight hair and congenital horner syndrome.

    PubMed

    Wang, Frederick M; Wertenbaker, Christian; Cho, Hyung; Marmor, Maury A; Ahn-Lee, Sandra S; Bernard, Bruno A

    2012-06-01

    Congenital Horner syndrome is a rare disorder that accounts for less than 5% of all cases of Horner syndrome. Like Horner syndrome in general, it consists primarily of ptosis, miosis, and anhidrosis. Congenital Horner syndrome may manifest some special features such as iris heterochromia since the sympathetic nervous system is an essential component for the development and maintenance of eye color. We present 3 cases of unilateral straight hair in association with congenital Horner syndrome in which the patients had straight hair ipsilateral to the Horner syndrome, whereas on the contralateral side, it was curly, and we discuss possible mechanisms for this phenomenon.

  8. Postural deformities in congenital nephrotic syndrome.

    PubMed Central

    Morgan, G; Postlethwaite, R J; Lendon, M; Houston, I B; Savage, J M

    1981-01-01

    Six successive cases of congenital nephrotic syndrome are described. Each one showed flexion deformities of the knees and hips, widely open anterior and posterior fontanelles, and wide separation of the skull sutures. These abnormalities were present not only in cases in which the renal histology was of the microcystic Finnish type of congenital nephrotic syndrome, but also in those in which the histological picture was one of the variants associated with congenital nephrotic syndrome. It is suggested that such abnormalities are postural deformities, possibly produced by the large placenta. Images Fig. 1 Fig. 2 PMID:7332344

  9. Congenital onychoheterotopia involving multiple toe nails.

    PubMed

    Yadav, Savita; Khullar, Geeti; Dogra, Sunil

    2013-01-01

    Onychoheterotopia is an uncommon condition in which nail tissue is found beyond the common nail unit of the digits of the hands and feet, most often on the fifth digit of the hand. It represents an extra and independent nail that can be present either congenitally, or more commonly, acquired following trauma. The exact pathogenesis of the congenital type is undetermined. We report a 25-year-old male with multiple congenital ectopic nails of the toes since birth, which has not been reported before.

  10. Congenital anomalies surveillance in Canada.

    PubMed

    Lowry, R Brian

    2008-01-01

    Congenital anomalies (CA) are present in approximately 3% of all newborn babies and account for about 12% of paediatric hospital admissions. They represent an important public health problem. Surveillance is especially important so that preventive measures such as folic acid fortification can be properly assessed without resorting to a series of ad hoc studies. Canada's surveillance of CAs is weak, with only Alberta and British Columbia having established sytems. Most provinces have perinatal systems but their CA data are incomplete and they do not capture terminations of pregnancy. The same is true of the Public Health Agency of Canada's system. A new system, the Fetal Alert Network, has been proposed for Ontario, which represents a start but will require additional sources of ascertainment if it is to be a truly population-based system for Ontario.

  11. Congenital dental disease of horses.

    PubMed

    DeBowes, R M; Gaughan, E M

    1998-08-01

    Equine congenital dental deformities are not limited merely to those presented here; however, the examples discussed offer the reader an appreciation for the range of severity and complexity that may be found in affected horses. The veterinarian is obligated to provide the best possible care for the patient and to relieve animal suffering. The lack of definitive evidence for heritability of many of these defects can place the veterinarian in an untenable position, particularly when presented with literature that proclaims or suggests without evidence that a particular condition is inherited. In such cases, the veterinarian is encouraged to counsel owners, citing substantiated medical information, and to recommend that owners make the decision to eliminate the affected animals' ability to reproduce.

  12. X-linked congenital retinoschisis.

    PubMed

    Kellner, U; Brümmer, S; Foerster, M H; Wessing, A

    1990-01-01

    The natural history and electrophysiological findings of 52 patients with X-linked congenital retinoschisis with a follow-up of up to 26 years are described. The mean visual acuity was reduced to 0.24 +/- 0.2 and remained unchanged in most patients during this time. If visual loss occurred, it usually happened in the first decennium. The complications were retinal detachments in 11% and vitreous hemorrhages in 4% of the eyes. In general, the vitreous hemorrhages resolved spontaneously. Retinal detachments were treated successfully with conventional buckling procedures. Redetachments occurred in about 40%. Prophylactic laser coagulation was of no use because it was complicated by detachment in 43% of our series. The electro-oculogram was usually normal. In addition to the known electrorentinographic findings of normal a-wave and reduced b-wave amplitudes, we found prolonged b-wave latencies and implicit times, as well as a reduced 30 Hz flicker response.

  13. MicroRNAs Expression in the Ileal Pouch of Patients with Ulcerative Colitis Is Robustly Up-Regulated and Correlates with Disease Phenotypes

    PubMed Central

    Sherman Horev, Hadas; Elad, Hofit; Baram, Liran; Issakov, Ofer; Tulchinsky, Hagit; Pasmanik-Chor, Metsada; Shomron, Noam; Dotan, Iris

    2016-01-01

    Background Gene expression alterations are associated with disease behavior in inflammatory bowel disease (IBD). microRNAs (miRNAs) are dominant in the regulation of gene expression, and may affect IBD phenotype. Our aim was to assess mucosal miRNA expression in IBD and the correlation with intestinal inflammation. Methods We performed a large-scale analysis of ileal mucosal miRNA. Biopsies were retrieved from patients with ileal Crohn’s disease (CD), unoperated ulcerative colitis (UC) patients, UC patients after pouch surgery, and normal controls (NC). Pouch UC patients were classified as having a normal pouch (NP), chronic pouchitis (CP), and Crohn’s-like disease of the pouch (CLDP). miRNA expression was analyzed by parallel massive (next-generation) sequencing (NGS). Bioinformatics tools were applied for clustering and the detection of potential targets. Results Sixty-one subjects were recruited. The ileum of unoperated UC patients was comparable with NC. There were significant miRNA expression alterations (fold change ≥2, corrected P ≤.05) in NP (n = 6), CP (n = 40) and CLDP (n = 139), but only two expression alterations were noted in CD. More than 90% of the altered miRNAs were up-regulated, and many were predicted to be associated with significantly decreased transcripts. miRNAs alterations were generally clustered with disease phenotypes. Conclusions Ileal inflammation causes increased miRNA expression. miRNA alterations correlate with IBD phenotype, apparently by controlling the down-regulation of specific mRNAs. PMID:27536783

  14. PillCam colon capsule endoscopy (PCCE) in colonic diseases

    PubMed Central

    Carter, Dan

    2016-01-01

    Diseases affecting the colon are common worldwide and can cause a major health problem. Colorectal cancer (CRC) as well as Inflammatory bowel diseases represent a major cause of morbidity and mortality in western countries. PillCam colon capsule endoscopy (PCCE) is a novel and promising technology that can be useful for the screening and monitoring of colonic diseases. In the recent years many articles examined the use of various versions of PCCE—the 1st and 2nd generation versus various other endoscopic or radiologic modalities both for detection of colonic polyps or cancer and in both ulcerative colitis (UC) and Crohn’s disease. The aim of the current review is to provide up to date information regarding the use and usefulness of this method in these disease. PMID:27668227

  15. Congenital retrosternal hernias of Morgagni: Manifestation and treatment in children

    PubMed Central

    Slepov, Oleksii; Kurinnyi, Sergii; Ponomarenko, Oleksii; Migur, Mikhailo

    2016-01-01

    Background: Due to scarcity of congenital diaphragmatic hearnias of Morgagni (CDHM), non-specific clinical presentation in the pediatric age group, we aimed to investigate the incidence, clinical manifestations, anatomical characteristics, and develop diagnostic algorithm and treatment of CDHM in children. Materials and Methods: The patients’ records of children with CDHM treated in our hospital during past 20 years were retrospectively reviewed for the age at diagnosis, gender, clinical findings, anatomical features, operative details and outcome. Results: Since 1995 to 2014 we observed 6 (3 boys, 3 girls) patients with CDHM, that comprise 3.2% of all congenital diaphragmatic hernia cases (n = 185). Age at diagnosis varied from 3 mo. to 10y.o. Failure to thrive was main symptom in 4 patients, followed by recurrent respiratory infections (n = 3), dyspnea (n = 3), and gastrointestinal manifestations: constipation (n = 2), abdominal pain (n = 1). Work-up consisted of plain X-ray for all (n = 6), upper GI (n = 3), barium enema (n = 2), sonography (n = 6) and CT (n = 2). Abdominal approach used in 5 patients, and thoracotomy in one. Herniated contents were: liver lobes (n = 4), transverse colon (n = 3) and greater omentum (n = 1). 5 had right-sided lesion, 1- left-sided. Defect repaired using local tissues. Post-operative course was uneventful; all patients appeared well during follow-up. Conclusion: CDHM is very uncommon anomaly, very occasionally diagnosed at the early age. Failure to thrive and recurrent respiratory infections are most frequent clinical manifestations. In suspected CDHM we advocate the following work-up: plain chest and abdominal X-ray, contrast study (upper GI series or barium enema), ultrasonographic screen and CT scan. Surgical repair via abdominal approach, using local tissues and hernia sac removal is preferred. PMID:27251653

  16. [Congenital bone marrow failure syndromes. The last 20 years by the example of congenital neutropenia].

    PubMed

    Zeidler, C; Welte, K

    2007-12-01

    Congenital bone marrow failure syndromes are rare diseases characterised by a reduction of mature blood cells (erythrocytes, platelets, neutrophils). Examples of such disorders include congenital aplastic anemia (Fanconi anemia), congenital hypoplastic anemia (Diamond-Blackfan anemia), congenital neutropenias (Kostmann syndrome, cyclic neutropenia, Shwachman-Diamond syndrome and others), and congenital thrombocytopenias (TAR syndrome, amegacaryocytic thrombocytopenia). In Germany the prevalence of congenital bone marrow failure syndromes can be estimated to be 10/1,000,000 children and adolescents. Although rare, these diseases contributed significantly to the current knowledge on normal haematopoiesis. The documentation of rare diseases by patient registries and the cooperation of clinical centres within networks are most important for the resolution of such disorders. In the following, congenital neutropenia will be presented as an example: Until the 1980s congenital neutropenia could only be classified clinically. Few cases had been reported in the literature. All subtypes were therefore collected under the general term "congenital neutropenia". The establishment of an international network of experts and the long-term documentation of the courses of disease in a common database allowed for statistically workable data in response to therapy, secondary diagnoses and the long-term prognosis. A close cooperation with scientists finally led to the characterisation of genetically different disorders with common pathomechanisms.

  17. Genetics Home Reference: congenital insensitivity to pain

    MedlinePlus

    ... have a complete loss of the sense of smell (anosmia). Congenital insensitivity to pain is considered a ... to cells that detect sensations such as touch, smell, and pain. Related Information What does it mean ...

  18. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    MedlinePlus

    ... Fujii T, Aiba H, Toda T. Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy. Brain Dev. ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  19. Genetics Home Reference: congenital mirror movement disorder

    MedlinePlus

    ... Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements ...

  20. Congenital and Genetic Disease in Domestic Animals

    ERIC Educational Resources Information Center

    Mulvihill, John J.

    1972-01-01

    Reviews observations on domestic animals that have led to the identification of environmental teratogens, and have provided insight into the pathogenesis of congenital defects and genetic diseases in man." (Author/AL)

  1. Ancient history of congenital adrenal hyperplasia.

    PubMed

    New, Maria I

    2011-01-01

    Although there are many erudite reports on the history of endocrinology and endocrine disorders, the history of congenital adrenal hyperplasia has not been published. I have tried to review ancient as well as modern history of CAH.

  2. Congenital Insensitivity to Pain (HSNA type IV).

    PubMed

    Millichap, J Gordon

    2015-04-01

    Investigators from New York University, NY, studied 14 patients with congenital insensitivity to pain with anhidrosis (CIPA), compared to 10 patients with chronically deficient sympathetic activity (pure autonomic failure), and 15 normal age-matched controls.

  3. Living with a Congenital Heart Defect

    MedlinePlus

    ... well the heart’s chambers and valves are working. Health Insurance and Employment Adults who have congenital heart defects ... carefully consider how changing jobs will affect their health insurance coverage. Some health plans have waiting periods or ...

  4. Genetics Home Reference: Leber congenital amaurosis

    MedlinePlus

    ... severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time. Leber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), ...

  5. [Congenital toxoplasmosis: severe ocular and neurological complications].

    PubMed

    Hoekstra, Franka; Buzing, Cecile; Sporken, Jan M J; Erasmus, Corry E; van der Flier, Michiel; Semmekrot, Ben A

    2011-01-01

    Two infants with congenital toxoplasmosis are presented. A girl born prematurely was treated postnatally after the mother had received antimicrobial treatment during pregnancy for acute toxoplasmosis. Apart from being small for gestational age, she remained without symptoms and treatment was ceased after 13 months. A 2-month-old boy presented with hydrocephalus and chorioretinitis, consistent with congenital toxoplasmosis. Despite antimicrobial treatment, at 12 months of age he suffered from epilepsy, cerebral palsy and vision impairment. Most infants with congenital toxoplasmosis (2 per 1000 live births in the Netherlands) are asymptomatic at birth. The education of pregnant women is crucial for the prevention of congenital toxoplasmosis. Awareness of antenatal and postnatal presenting signs and symptoms is important for clinicians, because early diagnosis and treatment may minimize sequelae. Untreated, the majority of affected infants will develop chorioretinitis, deafness and/or neurological symptoms.

  6. Genetics Home Reference: autosomal recessive congenital methemoglobinemia

    MedlinePlus

    ... it alters a molecule within these cells called hemoglobin . Hemoglobin carries oxygen to cells and tissues throughout the ... autosomal recessive congenital methemoglobinemia , some of the normal hemoglobin is replaced by an abnormal form called methemoglobin, ...

  7. Five Facts about Congenital Heart Defects

    MedlinePlus

    ... Features Five Facts about Congenital Heart Defects Language: English Español (Spanish) Recommend on Facebook Tweet Share Compartir ... Folic Acid : Helping to Ensure a Healthy Pregnancy. ( English or Spanish ) Ten Tips to Prevent Infections during ...

  8. Submacular hemorrhage secondary to congenital toxoplasmosis

    PubMed Central

    Costa, Ana Luiza Fontes de Azevedo; Martins, Thiago Gonçalves dos Santos; Moncada, Francisco Javier Solano; Motta, Mário Martins dos Santos

    2014-01-01

    ABSTRACT We report the case of a patient with congenital toxoplasmosis and submacular hemorrhage caused by a neovascular membrane who underwent an intravitreal injection of C3F8 and bevacizumab, and had a good visual recovery. PMID:24728255

  9. Congenital esophageal stenosis owing to tracheobronchial remnants

    PubMed Central

    Rebelo, Priscila Guyt; Ormonde, João Victor C.; Ormonde, João Baptista C.

    2013-01-01

    OBJECTIVE To emphasize the need of an accurate diagnosis of congenital esophageal stenosis due to tracheobronchial remnants, since its treatment differs from other types of congenital narrowing. CASE DESCRIPTION Four cases of lower congenital esophageal stenosis due to tracheobronchial remnants, whose definitive diagnosis was made by histopathology. Except for the last case, in which a concomitant anti-reflux surgery was not performed, all had a favorable outcome after resection and anastomosis of the esophagus. COMMENTS The congenital esophageal stenosis is an intrinsic narrowing of the organâ€(tm)s wall associated with its structural malformation. The condition can be caused by tracheobronchial remnants, fibromuscular stenosis or membranous diaphragm and the first symptom is dysphagia after the introduction of solid food in the diet. The first-choice treatment to tracheobronchial remnants cases is the surgical resection and end-to-end anastomosis of the esophagus. PMID:24142326

  10. Genetics Home Reference: congenital hepatic fibrosis

    MedlinePlus

    ... health and development? More about Mutations and Health Inheritance Pattern The various syndromes that include congenital hepatic fibrosis can have different inheritance patterns. Most of these disorders are inherited in an ...

  11. Genetics Home Reference: critical congenital heart disease

    MedlinePlus

    ... right ventricle, D-transposition of the great arteries , Ebstein anomaly, hypoplastic left heart syndrome , interrupted aortic arch, ... Testing Registry: Congenital heart disease Genetic Testing Registry: Ebstein's anomaly Genetic Testing Registry: Hypoplastic left heart syndrome ...

  12. Cervicobrachialgia with congenital vertebral anomalies and diastematomyelia.

    PubMed

    Roosen, N; De Moor, J

    1984-05-01

    A case of diastematomyelia in an adult female patient is reported. The relationship of the cervicobrachialgia, which was the presenting sign, to the diastematomyelia and the congenital vertebral anomalies is discussed.

  13. Congenital lung lesions: Postnatal management and outcome.

    PubMed

    Parikh, Dakshesh H; Rasiah, Shree Vishna

    2015-08-01

    Antenatal diagnosis of lung lesion has become more accurate resulting in dilemma and controversies of its antenatal and postnatal management. Majority of antenatally diagnosed congenital lung lesions are asymptomatic in the neonatal age group. Large lung lesions cause respiratory compromise and inevitably require urgent investigations and surgery. The congenital lung lesion presenting with hydrops requires careful postnatal management of lung hypoplasia and persistent pulmonary hypertension. Preoperative stabilization with gentle ventilation with permissive hypercapnia and delayed surgery similar to congenital diaphragmatic hernia management has been shown to result in good outcome. The diagnostic investigations and surgical management of the asymptomatic lung lesions remain controversial. Postnatal management and outcome of congenital cystic lung lesions are discussed.

  14. Retinoic acid is required for specification of the ventral eye field and for Rathke's pouch in the avian embryo.

    PubMed

    Maden, Malcolm; Blentic, Aida; Reijntjes, Susan; Seguin, Sophie; Gale, Emily; Graham, Anthony

    2007-01-01

    We have investigated the role of retinoic acid (RA) in eye development using the vitamin A deficient quail model system, which overcomes problems of retinoic acid synthesising enzyme redundancy in the embryo. In the absence of retinoic acid, the ventral optic stalk and ventral retina are missing, whereas the dorsal optic stalk and dorsal retina develop appropriately. Other ocular abnormalities observed were a thinner retina and the lack of differentiation of the lens. In an attempt to explain this, we studied the expression of various dorsally and ventrally expressed genes such as Pax2, Pax6, Tbx6, Vax2, Raldh1 and Raldh3 and noted that they were unchanged in their expression patterns. In contrast, the RA catabolising enzymes Cyp26A1 and Cyp26B1 which are known to be RA-responsive were not expressed at all in the developing eye. At much earlier stages, the expression domain of Shh in the prechordal plate was reduced, as was Nkx2.1 and we suggest a model whereby the eye field is specified according to the concentration of SHH protein that is present. We also describe another organ, Rathke's pouch which fails to develop in the absence of retinoic acid. We attribute this to the down-regulation of Bmp2, Shh and Fgf8 which are known to be involved in the induction of this structure.

  15. Stereological studies of differentiation in hamster cheek pouch epithelium: variations in the volume and frequency of mitochondria.

    PubMed Central

    White, F H; Gohari, K

    1983-01-01

    The present report describes quantitative studies of mitochondria from stratified squamous epithelial cells from hamster cheek pouch mucosa in differentiating compartments. Mucosa was processed for electron microscopy and, using strict sampling procedures, electron micrographs of epithelium from defined basal, spinous and granular strata were acquired. Using stereological and other morphometric methods, the volume density, numerical density and volume-to-surface ratio of mitochondria were estimated in each cellular layer, and these data were transformed into absolute values characterising the average cell in these layers. The results suggest that both volumetric and numerical densities of mitochondria decreased progressively during epithelial differentiation; conversely, the total volume and number of mitochondria present in granular cells were consistently higher than in basal cells, as was the volume of individual mitochondria. These quantitative changes may reflect functional alterations in the metabolism of epithelial cells during differentiation and provide a base line for further work on experimental epithelial biology and pathology. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 Fig. 6 Fig. 7 PMID:6350250

  16. Fast and slow ion diffusion processes in lithium ion pouch cells during cycling observed with fiber optic strain sensors

    NASA Astrophysics Data System (ADS)

    Sommer, Lars Wilko; Kiesel, Peter; Ganguli, Anurag; Lochbaum, Alexander; Saha, Bhaskar; Schwartz, Julian; Bae, Chang-Jun; Alamgir, Mohamed; Raghavan, Ajay

    2015-11-01

    Cell monitoring for safe capacity utilization while maximizing pack life and performance is a key requirement for effective battery management and encouraging their adoption for clean-energy technologies. A key cell failure mode is the build-up of residual electrode strain over time, which affects both cell performance and life. Our team has been exploring the use of fiber optic (FO) sensors as a new alternative for cell state monitoring. In this present study, various charge-cycling experiments were performed on Lithium-ion pouch cells with a particular class of FO sensors, fiber Bragg gratings (FBGs), that were externally attached to the cells. An overshooting of the volume change at high SOC that recovers during rest can be observed. This phenomenon originates from the interplay between a fast and a slow Li ion diffusion process, which leads to non-homogeneous intercalation of Li ions. This paper focuses on the strain relaxation processes that occur after switching from charge to no-load phases. The correlation of the excess volume and subsequent relaxation to SOC as well as temperature is discussed. The implications of being able to monitor this phenomenon to control battery utilization for long life are also discussed.

  17. Raman spectroscopic detection of early stages in DMBA-induced tumor evolution in hamster buccal pouch model: an exploratory study

    NASA Astrophysics Data System (ADS)

    Ghanate, Avinash D.; Kumar, G.; Talathi, Sneha; Maru, G. B.; Krishna, C. Murali

    2010-12-01

    Oral cancers are the serious health problem in developing as well as developed world, and more so in India and other south Asian countries. Survival rate of these cancers, despite advances in treatment modalities are one of the poorest which is attributed to lack of reliable screening and early detection methods. The hamster buccal pouch (HBP)carcinogenesis model closely mimics human oral cancers. Optical spectroscopy methods are sensitive enough to detect subtle biochemical changes and thus hold great potential in early detection of cancers. However, efficacy of these techniques in classifying of sequential evolution of tumors has never been tested. Therefore, in this study, we have explored the feasibility of Raman spectroscopic classification of different stages of cancers in hamster model. Strong vibrational modes of lipids (1440, 1654, and 1746 cm-1) are seen in control tissue spectra, whereas strong protein bands are seen in spectra of DMBA treated tissues. These differences were exploited to classify control and treated tissues using Linear Discriminant Analysis (LDA), Principle Component Analysis (PCA)-Limit test, Factorial Discriminant Analysis (FDA), Quadratic Discriminant Analysis (QDA), PLS-DA and non- linear decision tree methods. All these techniques have shown good classification between spectra of different stages of tumor evolution and results were further successfully verified by leave-one-out and single blinded methods. Thus findings of this study, first of its kind,demonstrate the feasibility of Raman spectroscopic detection of early changes in tumor evolution.

  18. Raman spectroscopic detection of early stages in DMBA-induced tumor evolution in hamster buccal pouch model: an exploratory study

    NASA Astrophysics Data System (ADS)

    Ghanate, Avinash D.; Kumar, G.; Talathi, Sneha; Maru, G. B.; Krishna, C. Murali

    2011-08-01

    Oral cancers are the serious health problem in developing as well as developed world, and more so in India and other south Asian countries. Survival rate of these cancers, despite advances in treatment modalities are one of the poorest which is attributed to lack of reliable screening and early detection methods. The hamster buccal pouch (HBP)carcinogenesis model closely mimics human oral cancers. Optical spectroscopy methods are sensitive enough to detect subtle biochemical changes and thus hold great potential in early detection of cancers. However, efficacy of these techniques in classifying of sequential evolution of tumors has never been tested. Therefore, in this study, we have explored the feasibility of Raman spectroscopic classification of different stages of cancers in hamster model. Strong vibrational modes of lipids (1440, 1654, and 1746 cm-1) are seen in control tissue spectra, whereas strong protein bands are seen in spectra of DMBA treated tissues. These differences were exploited to classify control and treated tissues using Linear Discriminant Analysis (LDA), Principle Component Analysis (PCA)-Limit test, Factorial Discriminant Analysis (FDA), Quadratic Discriminant Analysis (QDA), PLS-DA and non- linear decision tree methods. All these techniques have shown good classification between spectra of different stages of tumor evolution and results were further successfully verified by leave-one-out and single blinded methods. Thus findings of this study, first of its kind,demonstrate the feasibility of Raman spectroscopic detection of early changes in tumor evolution.

  19. Chronic treatment of male tammar wallabies with deslorelin implants during pouch life: effects on development, puberty, and reproduction in adulthood.

    PubMed

    Herbert, C A; Eckery, D C; Trigg, T E; Cooper, D W

    2007-06-01

    The present study evaluated the effects of chronic GnRH agonist (deslorelin) treatment on sexual maturation in the male tammar wallaby. Slow-release deslorelin or placebo implants were administered to male pouch young (n = 10/group) when they were between 180 and 200 days old, to determine if disruption of the pituitary-testicular axis during development altered the timing of sexual maturation or had long-term effects on adult reproductive function. Deslorelin treatment caused retardation of testicular growth and reduced the serum FSH and testosterone concentrations between 12 and 24 mo of age. Maturation of the hypothalamic-pituitary-testicular axis was also delayed in treated animals at 13 and 19 mo of age. Despite these alterations in the pattern and timing of neuroendocrine development, sexual maturation was not permanently blocked in these animals and deslorelin-treated animals reached sexual maturity at the same age as treated animals, as evidenced by a fully functional pituitary-testicular axis and proven fertility at 25 mo of age. The ability of the treated animals to reach puberty at the same time as control animals, despite delayed maturation of the hypothalamic-pituitary-testicular axis, suggests that puberty in the male tammar wallaby is additionally regulated by other, gonadotropin-independent factors.

  20. Ontogenetic shifts in brain scaling reflect behavioral changes in the life cycle of the pouched lamprey Geotria australis

    PubMed Central

    Salas, Carlos A.; Yopak, Kara E.; Warrington, Rachael E.; Hart, Nathan S.; Potter, Ian C.; Collin, Shaun P.

    2015-01-01

    Very few studies have described brain scaling in vertebrates throughout ontogeny and none in lampreys, one of the two surviving groups of the early agnathan (jawless) stage in vertebrate evolution. The life cycle of anadromous parasitic lampreys comprises two divergent trophic phases, firstly filter-feeding as larvae in freshwater and secondly parasitism as adults in the sea, with the transition marked by a radical metamorphosis. We characterized the growth of the brain during the life cycle of the pouched lamprey Geotria australis, an anadromous parasitic lamprey, focusing on the scaling between brain and body during ontogeny and testing the hypothesis that the vast transitions in behavior and environment are reflected in differences in the scaling and relative size of the major brain subdivisions throughout life. The body and brain mass and the volume of six brain structures of G. australis, representing six points of the life cycle, were recorded, ranging from the early larval stage to the final stage of spawning and death. Brain mass does not increase linearly with body mass during the ontogeny of G. australis. During metamorphosis, brain mass increases markedly, even though the body mass does not increase, reflecting an overall growth of the brain, with particularly large increases in the volume of the optic tectum and other visual areas of the brain and, to a lesser extent, the olfactory bulbs. These results are consistent with the conclusions that ammocoetes rely predominantly on non-visual and chemosensory signals, while adults rely on both visual and olfactory cues. PMID:26283894

  1. A new species of pouched octopus, Cistopus Gray, 1849 (Cephalopoda: Octopodidae) from the southwest coast of India.

    PubMed

    Sreeja, Vijayamma; Norman, Mark D; Kumar, Appukuttannair Biju

    2015-12-16

    Octopuses of the genus Cistopus Gray, 1849 are commercially valuable catches in the cephalopod fisheries of India. The primary and unique diagnostic character of this genus is the possession of eight small mucous pouches embedded in the oral faces of the webs between the bases of each arm. Historically only a single species of Cistopus, C. indicus, had been reported from Indian waters. In reviewing the octopod fauna off the Kerala coast, we have detected three species of Cistopus, of which one is described here as a new species. Cistopus platinoidus sp. nov. is distinct from Cistopus species described to date (C. indicus, C. taiwanicus and C. chinensis) on the basis of sucker counts, the number and position of enlarged suckers in males, and presence/absence of a calamus. Our studies of catch composition of Kerala octopod fisheries indicate a higher diversity of target species than previously suspected, including a number of undescribed species. Taxonomic resolution and collation of biological and distributional data are required for effective monitoring and management of these valuable fisheries.

  2. Diabetes Is Reversed in a Murine Model by Marginal Mass Syngeneic Islet Transplantation Using a Subcutaneous Cell Pouch Device

    PubMed Central

    Pepper, Andrew R.; Pawlick, Rena; Gala-Lopez, Boris; MacGillivary, Amanda; Mazzuca, Delfina M.; White, David J. G.; Toleikis, Philip M.; Shapiro, A. M. James

    2015-01-01

    Background Islet transplantation is a successful β-cell replacement therapy for selected patients with type 1 diabetes mellitus. Although high rates of early insulin independence are achieved routinely, long-term function wanes over time. Intraportal transplantation is associated with procedural risks, requires multiple donors, and does not afford routine biopsy. Stem cell technologies may require potential for retrievability, and graft removal by hepatectomy is impractical. There is a clear clinical need for an alternative, optimized transplantation site. The subcutaneous space is a potential substitute, but transplantation of islets into this site has routinely failed to reverse diabetes. However, an implanted device, which becomes prevascularized before transplantation, may alter this equation. Methods Syngeneic mouse islets were transplanted subcutaneously within Sernova Corp's Cell Pouch (CP). All recipients were preimplanted with CPs 4 weeks before diabetes induction and transplantation. After transplantation, recipients were monitored for glycemic control and glucose tolerance. Results Mouse islets transplanted into the CP routinely restored glycemic control with modest delay and responded well to glucose challenge, comparable to renal subcapsular islet grafts, despite a marginal islet dose, and normoglycemia was maintained until graft explantation. In contrast, islets transplanted subcutaneously alone failed to engraft. Islets within CPs stained positively for insulin, glucagon, and microvessels. Conclusions The CP is biocompatible, forms an environment suitable for islet engraftment, and offers a potential alternative to the intraportal site for islet and future stem cell therapies. PMID:26308506

  3. Congenital hemangiopericytoma: two cases of familiar presentation.

    PubMed

    Margarit, J; Rodó, J; Costa, J M; Vives, E; Escorihuela, F; Cardesa, A; Ribalta, T

    1997-08-01

    We report two cases of congenital hemangiopericytoma localized in the abdominal wall in the first patient and scalp in the second. The treatment of both cases consisted in the complete resection of the tumor mass. Four and two years later the patients remain asymptomatic. The special interest in this case report lies in the extremely low incidence of congenital hemangiopericytoma and that this is the first reference to affected siblings.

  4. Mediastinal bronchogenic cyst mimicking congenital lobar emphysema.

    PubMed

    Arun, Sumitha; Kumar, Manish; Ross, Benjamin Jeyanth

    2016-09-08

    Bronchogenic cyst (BC) is a rare congenital malformation of the lung. Most patients remain asymptomatic until adulthood while some are symptomatic in the first few years of life. However, symptoms in newborn period are rare. We report a case of a 3-day-old preterm baby with respiratory distress diagnosed as congenital lobar emphysema on chest X-ray. A CT scan revealed a mediastinal cyst causing obstructive lobar emphysema. The cyst was excised and pathological examination was suggestive of BC.

  5. Leber's congenital amaurosis with associated nephronophthisis.

    PubMed

    Roizenblatt, J; Peduti Cunha, L A

    1980-01-01

    The authors present a case of a 15-year-old girl with Leber's congenital amaurosis with associated nephronophthisis. The main findings in this case are: congenital blindness; enophthalmos; photophobia; nystagmus; keratoconus; cataracts; pigmentary degeneration in the fundus of both eyes; progressive uremia with absence of hematuria, proteinuria, pyuria, and glycosuria; low urinary density, normal lipidic profile; osteoporosis; absence of edema; polydipsia; polyuria; and a history of consanguinity between her parents. Tranmission of this entity allows an autosomal recessive pattern.

  6. Screening programme for congenital toxoplasmosis in France.

    PubMed

    Thulliez, P

    1992-01-01

    The high prevalence of Toxoplasma gondii infection in France led to the establishment of a national screening programme. Preventive measures were progressively introduced, and these became compulsory in 1978 with the result that the incidence of congenital toxoplasmosis is now markedly reduced. Further improvements may include more systematic sampling from women before pregnancy, better and adequate health education and centralized notification of both maternal and congenital cases of toxoplasmosis.

  7. Congenital diseases of the gastrointestinal tract.

    PubMed

    Lentze, M

    2014-05-01

    With the rapid increase in knowledge on the genetic origin of diseases within the gastrointestinal tract the number of congenital diseases, which already manifest during childhood have drastically increased. Due to the large application of molecular genetics the number is steadily increasing. To make the access to these rare diseases fast and efficient the data base of the National Library of Medicine (Online Mendelian Inheritance of Man - OMIN) is a very helpful online tool, with which all these disease entities can be found easily (http://www.ncbi.nlm.nih.gov/omim). Detailed tables are given to find most of the congenitally inherited disease, which affect the gastrointestinal tract. A variety of congenital diarrheas with disturbances of digestion, hydrolysis, absorption and secretion is described in detail: lactose intolerance, sucrose intolerance, glucose-galactose malabsorption, fructose malabsorption, trehalase and enterokinase deficiency, congenital chloride and sodium diarrhea, congenital hypomagnesaemia, primary bile acid malabsorption, acrodermatitis enteropathica and Menke's syndrome. Also described in detail are diseases with structural anomalies of the intestine like microvillous inclusion disease, congenital tufting enteropathy and IPEX syndrome. The diagnosis in the disturbances of carbohydrate hydrolysis or absorption can be established by H2-breath tests after appropriate sugar challenge. Treatment consists of elimination of the responsible sugar from the diet. The diagnosis of the congenital secretory diarrheas is established by investigation of electrolytes in blood and stool. Substitution of high doses of the responsible mineral can improve the clinical outcome. In acrodermatitis enteropathica low serum zinc level together with the typical skin lesions guide to the diagnosis. High doses of oral zinc aspartate can cure the symptoms of the disease. The diagnosis of structural congenital lesions of the intestine can be established by histology and

  8. Congenital bilateral sternocleidomastoid contracture: a case report.

    PubMed

    Babu, Manohar K V; Lee, Peter; Mahadev, Arjandas; Lee, Eng Hin

    2009-05-01

    Unilateral sternocleidomastoid muscle contracture causing torticollis and other secondary deformities such as facial scoliosis, plagiocephaly and scoliosis of cervical spine are well known. The aetiology and pathogenesis is still intriguing. Although unilateral contracture of sternocleidomastoid is seen quite often, bilateral sternocleidomastoid contracture is almost unheard of. A review of the English literature revealed no cases of bilateral congenital sternocleidomastoid contracture being reported. We present a case report of a 19-year-old girl with congenital bilateral sternocleidomastoid contracture.

  9. Congenital abnormalities associated with extrahepatic portal hypertension.

    PubMed Central

    Odièvre, M; Pigé, G; Alagille, D

    1977-01-01

    Congenital abnormalities were present in 12 out of 30 (40%) children with extrahepatic portal hypertension of unknown cause, but in only 2 out of 17 (12%) children with extnahepatic portal hypertension secondary to umbilical vein catheterization or omphalitis. The most frequent abnormalities in this series and in published reports were atrial septal defect, malformation of the biliary tract, and anomalous inferior vena cava. These findings are consistent with the view that some cases with extrahepatic portal hypertension are congenital in origin. PMID:869567

  10. Congenital abnormalities associated with extrahepatic portal hypertension.

    PubMed

    Odièvre, M; Pigé, G; Alagille, D

    1977-05-01

    Congenital abnormalities were present in 12 out of 30 (40%) children with extrahepatic portal hypertension of unknown cause, but in only 2 out of 17 (12%) children with extnahepatic portal hypertension secondary to umbilical vein catheterization or omphalitis. The most frequent abnormalities in this series and in published reports were atrial septal defect, malformation of the biliary tract, and anomalous inferior vena cava. These findings are consistent with the view that some cases with extrahepatic portal hypertension are congenital in origin.

  11. Congenital Symmastia: A 3-Step Approach

    PubMed Central

    Allam, Atef A.

    2016-01-01

    Summary: Congenital symmastia is a medial confluence of the breasts. It is a rare anomaly with few reports in the literature and no standard treatment. In this article, we present a case of congenital symmastia treated by 3 steps: liposuction, fixation of the skin to the chest wall in the area of the intermammary sulcus, and postoperative intermammary compression. A successful result was achieved with normal cleavage between the breasts. So, this is considered the ideal treatment for this condition.

  12. Cholesterol metabolism and colon cancer.

    PubMed

    Broitman, S A; Cerda, S; Wilkinson, J

    1993-01-01

    While epidemiologic and concordant experimental data indicate a direct relationship between dietary fat (and presumably caloric) intake and the development of colon cancer, the effect of dietary cholesterol on this disease is still not clear. However, there appears to be a developing literature concerning an inverse relationship between serum and plasma cholesterol levels, and the risk for colon cancer. Findings that low serum cholesterol levels are apparent as early as ten years prior to the detection of colon cancer implies that sub clinical disease is probably not involved initially in this process. The possibility of low serum cholesterol as a bio-marker was considered in epidemiologic studies which focused upon obese men with lower than normal serum cholesterol levels who were found to be at increased risk to colon cancer. While the relationship between low serum cholesterol and colonic or intestinal cholesterol metabolism is presently not understood, current genetic studies provide a promising though as yet unexplored potential association. Alterations which occur during the developmental progression of colonic cancer include changes in chromosome 5, which also carries two genes vital to the biosynthesis and regulation of systemic and cellular cholesterol metabolism, 3-hydroxy-3-methylglutaryl coenzyme A synthase, and 3-hydroxy-3-methylglutaryl coenzyme A reductase (HMGCoA R). Regulation of cholesterol metabolism in intestinal cells in vivo and in vitro varies from that seen in normal fibroblasts or hepatocytes in terms of exogenous sources of cholesterol and how these sources regulate internal synthesis. Colonic cancer cells have been used to assess small bowel enterocyte cholesterol metabolism, which has been possible because of their ability to differentiate in culture, however information regarding true colonic enterocyte cholesterol metabolism is relatively scarce. Colonic cancer cells have been shown to possess a diminished or nonexistent ability to use

  13. Small bowel and colon perforation.

    PubMed

    Brown, Carlos V R

    2014-04-01

    For patients with small bowel and colonic perforations, a definitive diagnosis of the cause of perforation is not necessary before operation. Bowel obstruction and inflammatory bowel disease are the most common causes of nontraumatic intestinal perforations in industrialized countries, whereas infectious causes of intestinal perforations are more common in developing countries. Treatment of small bowel and colonic perforations generally includes intravenous antibiotics and fluid resuscitation, but the specific management of the bowel depends on the underlying cause of the perforation.

  14. [Extramedullary plasmacytoma of the colon].

    PubMed

    Amo Trillo, Víctor; Vera García, Pilar; Pinto, Isabel; Olmedo Martín, Raúl; Romero Blasco, Bartolomé

    2007-05-01

    We report the case of a 68 year-old man in whom a tumour of the colon was identified by colonoscopy, during diagnostic studies for lower gastrointestinal bleeding as an outpatient. Histological examination showed clonal proliferation of plasma cells IgG-K. No other location was affected (including bone marrow). Diagnosis of plasmacytoma of the colon was made. We have carried out a review of the literature in relation to this unusual disorder.

  15. Selenium, Folate, and Colon Cancer

    PubMed Central

    Connelly-Frost, Alexandra; Poole, Charles; Satia, Jessie A.; Kupper, Lawrence L.; Millikan, Robert C.; Sandler, Robert S.

    2009-01-01

    Background Selenium is an essential trace element which has been implicated in cancer risk; however, study results have been inconsistent with regard to colon cancer. Our objectives were to 1) investigate the association between selenium and colon cancer 2) evaluate possible effect measure modifiers and 3) evaluate potential biases associated with the use of post-diagnostic serum selenium measures Methods The North Carolina Colon Cancer Study is a large population-based, case-control study of colon cancer in North Carolina between 1996 and 2000 (n=1,691). Nurses interviewed patients about diet and lifestyle and drew blood specimens which were used to measure serum selenium. Results Individuals who had both high serum selenium (>140 mcg/L) and high reported folate (>354 mcg/day), had a reduced relative risk of colon cancer (OR=0.5, 95% CI=0.4,0.8). The risk of colon cancer for those with high selenium and low folate was approximately equal to the risk among those with low selenium and low folate (OR=1.1, 95% CI=0.7,1.5) as was the risk for those with low selenium and high folate (OR=0.9, 95% CI=0.7–1.2). We did not find evidence of bias due to weight loss, stage at diagnosis, or time from diagnosis to selenium measurement. Conclusion High levels of serum selenium and reported folate jointly were associated with a substantially reduced risk of colon cancer. Folate status should be taken into account when evaluating the relation between selenium and colon cancer in future studies. Importantly, weight loss, stage at diagnosis, or time from diagnosis to blood draw did not appear to produce strong bias in our study. PMID:19235033

  16. [Lactobacilli and colon carcinoma--A review].

    PubMed

    Wang, Shumei; Zhang, Lanwei; Shan, Yujuan

    2015-06-04

    Epidemiological studies showed that incidence of colon carcinoma is increased in the world. There are many difficulties to inhibit colon carcinoma because the causes of inducing colon carcinoma were various and interactive each other. Previous evidence supported the balance of the colonic microflora was critical in inhibiting colon carcinoma and the protection by colonic microflora could be improved by ingesting lactobacilli. Therefore, the biological functions and anticancer effects of lactobacilli attract attention of researchers. In this review we discussed the causes of colon carcinoma; the anticancer mechanisms of lactobacilli on the basis of our own studies. Eventually, we summarized the effects of anticancer of different components and metabolic products extracted from lactobacilli.

  17. Microtia and congenital aural atresia.

    PubMed

    Genc, Selahattin; Kahraman, Erkan; Ozel, Halil Erdem; Arslan, Ilker Burak; Demir, Ahmet; Selcuk, Adin

    2012-11-01

    The purpose of this study was to show the clinical characteristics of microtia and congenital aural atresia cases in Turkey and to make the classification. For this purpose, records of 28 patients with microtia who were admitted to the ENT Clinic of Eskisehir Military Hospital, Turkey, between 1995 and 2011 and 3 patients admitted to the ENT outpatient clinic of Kocaeli Derince Education and Research Hospital, Turkey, were analyzed retrospectively. Of the total 31 patients with microtia (35 microtic ears), involvement of the right ear of 20 patients (64.5%), the left ear of 7 patients (22.5%), and bilateral involvement in 4 patients (12.9%) were observed. There was a unilateral involvement in 27 patients (87.1%). According to the Marx grading, 2 patients (5.7%) had grade 1 malformation, 3 (8.6%) had grade 2 malformation, 29 (82.9%) had grade 3 malformation, and 1 (2.9%) had grade 4 malformation (anotia). Although the characteristics of microtia vary in different population, the results in Turkey are consistent with those in the literature.

  18. Congenital abnormalities of the goat.

    PubMed

    Basrur, P K

    1993-03-01

    Congenital abnormalities of genetic and environmental causes constitute a striking proportion of the afflictions seen in goats. These include a variety of malformations and metabolic diseases that could occur in all breeds but tend to exhibit predisposition in some breeds of goats. Genetic abnormalities for which the carrier state is detectable with the aid of enzymes and surface protein markers can be eliminated from goat populations, whereas common polygenic disorders including udder problems in does and gynecomastia in bucks are more difficult to eradicate because the mutant genes responsible for these traits generally do not declare themselves until inbreeding brings together a critical concentration of liability genes to create a crisis. A substantial reduction of common abnormalities in this species, such as intersexuality in dairy breeds, abortion in Angora breed, and arthritis in the Pygmy breed, will require a change in breeders' preference and selection practice. In making these changes, however, the beneficial traits will have to be balanced against the undesirable effects of the selected mutant genes (pleiotropy), which hold the key to success or failure of a breed under domestication.

  19. Diagnosis of congenital fibrinogen disorders.

    PubMed

    Lebreton, Aurélien; Casini, Alessandro

    2016-08-01

    Congenital fibrinogen disorders comprise quantitative disorders defined by a complete absence (afibrinogenemia) or by a decreased level (hypofibrinogenemia) of circulating fibrinogen and qualitative disorders characterized by a discrepancy between the activity and the antigenic levels of fibrinogen (dysfibrinogenemia and hypodysfibrinogenemia). The biological diagnosis is based on a standard haemostasis assessment. All the coagulation tests that depend on the formation of fibrin as the end point are affected; although in dysfibrinogenemia the specificity and sensitivity of routine test depend on reagent and techniques. A genetic exploration permits to confirm the diagnosis and may enhance the prediction of the patient's phenotype. Homozygous or composite heterozygous null mutations are most often responsible for afibrinogenemia while hypofibrinogenemic patients are mainly heterozygous carrier of an afibrinogenemic allele. Heterozygous missense mutations are prevalent in dysfibrinogenemia, with two hot spot localized in exon 2 of the FGA and in the exon 8 of the FGG. The correlation between phenotype and genotype has been identified in some fibrinogen variants, including six mutations clustered in exons 8 and 9 of the FGG leading to hypofibrinogenemia with hepatic inclusions of abnormal fibrinogen aggregates as well as a few mutations associated with an increase risk of thrombotic events. A familial screening and additional functional assays should be carried out when possible.

  20. [Congenital muscular dystrophies in children].

    PubMed

    Scavone-Mauro, Cristina; Barros, Graciela

    2013-09-06

    From the clinical and genetic point of view, congenital muscular dystrophies (CMD) are a heterogenic group of diseases within neuromuscular pathologies. The best known forms are: merosin deficiency CMD, collagen VI deficiency CMD, LMNA-related CMD, selenoprotein-related CMD (SEPN1) and alpha-dystroglycan-related CMD. They present with a broad spectrum of clinical phenotypes. Most of them are transmitted by recessive autosomal inheritance. The initial manifestations very often begin in infancy or in the neonatal period. There are clinical suspicions of the existence of hypotonia and paresis, and they are characterised by a dystrophic pattern in the muscular biopsy (muscle replaced by fibroadipose tissue, with necrosis and cell regeneration). Advances in the understanding of the molecular pathogenesis of CMD have made it possible to make further progress in the classification of the different subtypes. The aim of this review is to comment on the advances made in recent years as regards the classification of CMD in terms of genetics, the proteins involved and their clinical presentation.

  1. Congenital malaria in Urabá, Colombia

    PubMed Central

    2011-01-01

    Background Congenital malaria has been considered a rare event; however, recent reports have shown frequencies ranging from 3% to 54.2% among newborns of mothers who had suffered malaria during pregnancy. There are only a few references concerning the epidemiological impact of this entity in Latin-America and Colombia. Objective The aim of the study was to measure the prevalence of congenital malaria in an endemic Colombian region and to determine some of its characteristics. Methods A prospective, descriptive study was carried out in the mothers who suffered malaria during pregnancy and their newborns. Neonates were clinically evaluated at birth and screened for Plasmodium spp. infection by thick smear from the umbilical cord and peripheral blood, and followed-up weekly during the first 21 days of postnatal life through clinical examinations and thick smears. Results 116 newborns were included in the study and 80 umbilical cord samples were obtained. Five cases of congenital infection were identified (four caused by P. vivax and one by P. falciparum), two in umbilical cord blood and three in newborn peripheral blood. One case was diagnosed at birth and the others during follow-up. Prevalence of congenital infection was 4.3%. One of the infected newborns was severely ill, while the others were asymptomatic and apparently healthy. The mothers of the newborns with congenital malaria had been diagnosed with malaria in the last trimester of pregnancy or during delivery, and also presented placental infection. Conclusions Congenital malaria may be a frequent event in newborns of mothers who have suffered malaria during pregnancy in Colombia. An association was found between congenital malaria and the diagnosis of malaria in the mother during the last trimester of pregnancy or during delivery, and the presence of placental infection. PMID:21846373

  2. Congenital tumors of the central nervous system.

    PubMed

    Severino, Mariasavina; Schwartz, Erin S; Thurnher, Majda M; Rydland, Jana; Nikas, Ioannis; Rossi, Andrea

    2010-06-01

    Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into "definitely congenital" (present or producing symptoms at birth), "probably congenital" (present or producing symptoms within the first week of life), and "possibly congenital" (present or producing symptoms within the first 6 months of life). They represent less than 2% of all childhood brain tumors. The clinical features of newborns include an enlarged head circumference, associated hydrocephalus, and asymmetric skull growth. At birth, a large head or a tense fontanel is the presenting sign in up to 85% of patients. Neurological symptoms as initial symptoms are comparatively rare. The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies. Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor. They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas. Less common histologies include craniopharyngiomas and ependymomas. There is a strong predilection for supratentorial locations, different from tumors of infants and children. Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia. The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor. However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors, where aggressive surgical treatment leads to disease-free survival.

  3. Laboratory Investigations of African Pouched Rats (Cricetomys gambianus) as a Potential Reservoir Host Species for Monkeypox Virus

    PubMed Central

    Hutson, Christina L.; Nakazawa, Yoshinori J.; Self, Joshua; Olson, Victoria A.; Regnery, Russell L.; Braden, Zachary; Weiss, Sonja; Malekani, Jean; Jackson, Eddie; Tate, Mallory; Karem, Kevin L.; Rocke, Tonie E.; Osorio, Jorge E.; Damon, Inger K.; Carroll, Darin S.

    2015-01-01

    Abstract Monkeypox is a zoonotic disease endemic to central and western Africa, where it is a major public health concern. Although Monkeypox virus (MPXV) and monkeypox disease in humans have been well characterized, little is known about its natural history, or its maintenance in animal populations of sylvatic reservoir(s). In 2003, several species of rodents imported from Ghana were involved in a monkeypox outbreak in the United States with individuals of three African rodent genera (Cricetomys, Graphiurus, Funisciurus) shown to be infected with MPXV. Here, we examine the course of MPXV infection in Cricetomys gambianus (pouched Gambian rats) and this rodent species’ competence as a host for the virus. We obtained ten Gambian rats from an introduced colony in Grassy Key, Florida and infected eight of these via scarification with a challenge dose of 4X104 plaque forming units (pfu) from either of the two primary clades of MPXV: Congo Basin (C-MPXV: n = 4) or West African (W-MPXV: n = 4); an additional 2 animals served as PBS controls. Viral shedding and the effect of infection on activity and physiological aspects of the animals were measured. MPXV challenged animals had significantly higher core body temperatures, reduced activity and increased weight loss than PBS controls. Viable virus was found in samples taken from animals in both experimental groups (C-MPXV and W-MPXV) between 3 and 27 days post infection (p.i.) (up to 1X108 pfu/ml), with viral DNA found until day 56 p.i. The results from this work show that Cricetomys gambianus (and by inference, probably the closely related species, Cricetomys emini) can be infected with MPXV and shed viable virus particles; thus suggesting that these animals may be involved in the maintenance of MPXV in wildlife mammalian populations. More research is needed to elucidate the epidemiology of MPXV and the role of Gambian rats and other species. PMID:26517724

  4. Laboratory Investigations of African Pouched Rats (Cricetomys gambianus) as a Potential Reservoir Host Species for Monkeypox Virus.

    PubMed

    Hutson, Christina L; Nakazawa, Yoshinori J; Self, Joshua; Olson, Victoria A; Regnery, Russell L; Braden, Zachary; Weiss, Sonja; Malekani, Jean; Jackson, Eddie; Tate, Mallory; Karem, Kevin L; Rocke, Tonie E; Osorio, Jorge E; Damon, Inger K; Carroll, Darin S

    2015-01-01

    Monkeypox is a zoonotic disease endemic to central and western Africa, where it is a major public health concern. Although Monkeypox virus (MPXV) and monkeypox disease in humans have been well characterized, little is known about its natural history, or its maintenance in animal populations of sylvatic reservoir(s). In 2003, several species of rodents imported from Ghana were involved in a monkeypox outbreak in the United States with individuals of three African rodent genera (Cricetomys, Graphiurus, Funisciurus) shown to be infected with MPXV. Here, we examine the course of MPXV infection in Cricetomys gambianus (pouched Gambian rats) and this rodent species' competence as a host for the virus. We obtained ten Gambian rats from an introduced colony in Grassy Key, Florida and infected eight of these via scarification with a challenge dose of 4X104 plaque forming units (pfu) from either of the two primary clades of MPXV: Congo Basin (C-MPXV: n = 4) or West African (W-MPXV: n = 4); an additional 2 animals served as PBS controls. Viral shedding and the effect of infection on activity and physiological aspects of the animals were measured. MPXV challenged animals had significantly higher core body temperatures, reduced activity and increased weight loss than PBS controls. Viable virus was found in samples taken from animals in both experimental groups (C-MPXV and W-MPXV) between 3 and 27 days post infection (p.i.) (up to 1X108 pfu/ml), with viral DNA found until day 56 p.i. The results from this work show that Cricetomys gambianus (and by inference, probably the closely related species, Cricetomys emini) can be infected with MPXV and shed viable virus particles; thus suggesting that these animals may be involved in the maintenance of MPXV in wildlife mammalian populations. More research is needed to elucidate the epidemiology of MPXV and the role of Gambian rats and other species.

  5. Macroscopic anatomy of the lower respiratory system in a nocturnal burrowing rodent: African giant pouched rat (Cricetomys gambianus, Waterhouse 1840).

    PubMed

    Ibe, C S; Salami, S O; Onyeanusi, B I

    2011-04-01

    Cricetomys gambianus is a rat that lives principally in burrows, coming out at night in search of food. The design and structure of the lower respiratory system reflects its oxygen and metabolic demand which can be attributed to its habitat. A morphological and morphometric investigation of its lower respiratory system was undertaken to document the normal anatomical features and assess its morpho-functional paradigm. Specifically, an anatomical detail of the lungs and conductive airway was described, the structures being elucidated by dissection and radiography. Evaluation of dissected specimens showed that tracheal cartilages ranged from 21 to 33 rings with an average of 25.5. They exhibited a random pattern of anastomoses between adjacent rings. Transverse diameters of the principal bronchus in the male and female rats were 3.767 and 3.759 mm respectively. The right lung consisted of four lobes while the left lung was not lobed. Bronchogram revealed that lung lobation corresponded with bronchial tree division. Inter-lobar fissures were absent on the right lung except for the ventral boarder separating the cranial lobe from the caudal lobe. The entire lungs provided stability to the heart in situ, through the cardiac notch. This study also included correlation analysis of the dimensions, weights and volumes of the lower respiratory organs with the nose-rump length and body weight of 18 African giant pouched rats of both sexes. The relationship of the anatomy of the lower respiratory system of the rodent to the oxygen tension in their burrow and to their energy utilization is discussed.

  6. Male genitoplasty for 46 XX congenital adrenal hyperplasia patients presenting late and reared as males

    PubMed Central

    Sharma, Shilpa; Gupta, Devendra K.

    2012-01-01

    Aim: To evaluate the clinical profile and management of 46 XX Congenital Adrenal Hyperplasia (CAH) patients presenting with severe virilization and assigned a male gender. Materials and Methods: Of 173 children diagnosed with CAH at the Pediatric Intersex Clinic since 1980, seven children with CAH presented late with severe virilization and were reared as males. All of them were assigned the male sex with removal of the female adnexa. Six were treated with male genitoplasty. Appropriate hormonal supplementation was offered after puberty. Results: The mean age at presentation was 14.2 years (7 – 21). Six patients had presented after puberty, only one at seven years of age. Staged male genitoplasty comprising of chordee correction, male urethroplasty, and bilateral testicular prosthesis was performed. The female adnexa (uterus, ovaries, most of the upper vagina, and the fallopian tubes) were removed. The mental makeup was masculine in six and bigender in one. Bilateral mastectomy was performed at puberty in all. Hormonal treatment comprised of glucocorticoids and testosterone. Six patients were comfortable with the outcome of the masculinizing genitoplasty. One had a short-sized phallus. One had repeated attacks of urinary tract infection arising from the retained lower vaginal pouch. Social adjustments were good in all, except in one who had a bigender mental makeup. Conclusion: CAH patients with severe virilization presenting late and reared as males are extremely rare. However, the assigned gender can be retained adequately as males, meeting the socioeconomic compulsions of the society. The results are satisfactory following appropriate surgical procedures and hormonal supplementation. PMID:23226638

  7. Prevention and avoidance of congenital malformations.

    PubMed

    Nevin, N C

    1988-06-15

    Many congenital abnormalities do not have either a Mendelian pattern of inheritance or an identifiable chromosome abnormality and are described as 'multifactorial' as it is assumed they are determined by several genes, each with added effects and modified to a greater or lesser extent by environmental factors. They include spina bifida and anencephaly, cleft lip or cleft palate or both, congenital heart defect and congenital dislocation of the hip, and they constitute a major community health problem. Developments in genetics, biochemistry and cytogenetics have presented new approaches to the prevention and avoidance of congenital abnormalities. The approaches available for the avoidance of congenital malformations include the avoidance of harmful environmental factors, the screening of the newborn and early treatment, genetic counselling and antenatal monitoring with selective termination. The prevention of neural-tube defects in 'high risk' mothers can be achieved by periconceptional vitamin supplementation. In Northern Ireland, of 438 fully supplemented women, only 4 (0.98%) infants or fetuses among 407 infants and fetuses examined had a neural-tube defect, whereas of 356 unsupplemented women, 16 (4.7%) infants or fetuses among 337 infants or fetuses examined had a neural-tube defect.

  8. Congenital lacrimal fistula: A major review.

    PubMed

    Chaung, Jia Quan; Sundar, Gangadhara; Ali, Mohammad Javed

    2016-08-01

    The purpose of this article is to review and summarize the etiopathogenesis, symptomatology, systemic associations, management, complications and clinical outcomes of congenital lacrimal fistulae. The authors performed an electronic database (PubMed, MEDLINE, EMBASE and Cochrane Library) search of all articles published in English on congenital lacrimal fistulae. Congenital subsets of patients from series of mixed lacrimal fistulae were included in the review. These articles were reviewed along with their relevant cross-references. Data reviewed included demographics, presentations, investigations, management, complications and outcomes. The prevalence of congenital lacrimal fistulae is reported to be around 1 in 2000 live births. They are frequently unilateral, although familial cases tend to be bilateral. Lacrimal and systemic anomalies have been associated with lacrimal fistulae. Exact etiopathogenesis is unknown but mostly believed to be an accessory out budding from the lacrimal drainage system during embryogenesis. Treatment is indicated when significant epiphora or discharge is present and is mostly achieved by various fistulectomy techniques with or without a dacryocystorhinostomy. Congenital lacrimal fistulae are a distinct clinical entity with unique features. Surgical management can be challenging and successful outcomes are usually achieved with widely accepted protocols.

  9. Congenital basis of posterior fossa anomalies

    PubMed Central

    Cotes, Claudia; Bonfante, Eliana; Lazor, Jillian; Jadhav, Siddharth; Caldas, Maria; Swischuk, Leonard

    2015-01-01

    The classification of posterior fossa congenital anomalies has been a controversial topic. Advances in genetics and imaging have allowed a better understanding of the embryologic development of these abnormalities. A new classification schema correlates the embryologic, morphologic, and genetic bases of these anomalies in order to better distinguish and describe them. Although they provide a better understanding of the clinical aspects and genetics of these disorders, it is crucial for the radiologist to be able to diagnose the congenital posterior fossa anomalies based on their morphology, since neuroimaging is usually the initial step when these disorders are suspected. We divide the most common posterior fossa congenital anomalies into two groups: 1) hindbrain malformations, including diseases with cerebellar or vermian agenesis, aplasia or hypoplasia and cystic posterior fossa anomalies; and 2) cranial vault malformations. In addition, we will review the embryologic development of the posterior fossa and, from the perspective of embryonic development, will describe the imaging appearance of congenital posterior fossa anomalies. Knowledge of the developmental bases of these malformations facilitates detection of the morphological changes identified on imaging, allowing accurate differentiation and diagnosis of congenital posterior fossa anomalies. PMID:26246090

  10. [Evaluation of congenital heart disease in adults].

    PubMed

    Oliver Ruiz, José María; Mateos García, Marta; Bret Zurita, Montserrat

    2003-06-01

    Improvements in the diagnosis and surgical treatment of congenital heart disease during infancy and childhood have resulted in an outstanding increase in the prevalence of these entities during adulthood. Congenital heart disease in the adult represents a new diagnostic challenge to the consultant cardiologist, unfamiliar with the anatomical and functional complexities of cardiac malformations. Assessment of adult congenital heart disease with imaging techniques can be as accurate as in children. However, these techniques cannot substitute for a detailed clinical assessment. Physical examination, electrocardiography and chest x-rays remain the three main pillars of bedside diagnosis. Transthoracic echocardiography is undoubtedly the imaging technique which provides most information, and in many situations no additional studies are needed. Nevertheless, ultrasound imaging properties in adults are not as favorable as in children, and prior surgical procedures further impair image quality. Despite recent advances in ultrasound technologies such as harmonic or contrast imaging, other diagnostic procedures are sometimes required. Fortunately, transesophageal echocardiography and magnetic resonance imaging are easily performed in the adult, and do not require anaesthetic support, in contrast to pediatric patients. These techniques, together with nuclear cardiology and cardiac catheterization, complete the second tier of diagnostic techniques for congenital heart disease. To avoid unnecessary repetition of diagnostic procedures, the attending cardiologist should choose the sequence of diagnostic techniques carefully; although the information this yields is often redundant, it is also frequently complementary. This article aims to compare the diagnostic utility of different imaging techniques in adult patients with congenital heart disease, both with and without prior surgical repair.

  11. [Congenital heart disease in Mexico. Regionalization proposal].

    PubMed

    Calderón-Colmenero, Juan; Cervantes-Salazar, Jorge Luis; Curi-Curi, Pedro José; Ramírez-Marroquín, Samuel

    2010-01-01

    Congenital cardiopathies are the most frequent congenital malformations. Reports of its prevalence around the world range from 2.1 to 12.3 for every 1000 newborns. Prevalence in our country remains unknown, but it probably occupies sixth place for mortality in infants less than a year old, and third place for mortality in those aged between 1 and 4 years. Based on birthrate, it is calculated that 10 to 12 000 infants in our country have some cardiac malformation. To understand the magnitude of the problem, it is important to identify the global number of newborns with some congenital cardiopathy each year and the type of malformation that they have, in order to determine the necessary resources and to plan their distribution. The main objective of regionalization is the justification of the resources with an emphasis in the specialized medical services to provide the best results for the patients. Hence, reason, based on the resources of each state, as well as their natality and infant mortality rates related to congenital cardiovascular pathology, we should proceed to regionalize the attention, and to simultaneously create a trustworthy database of the congenital cardiopathies. This should have many benefits, such as increase the number of total attended cases, improve the quality of attention, use appropriately the existent resources, and -surely- decrease the infant mortality.

  12. Congenital scoliosis: an up-to-date

    PubMed Central

    Burnei, G; Gavriliu, S; Vlad, C; Georgescu, I; Ghita, RA; Dughilă, C; Japie, EM; Onilă, A

    2015-01-01

    Congenital scoliosis represents a spinal malformation due to defects of formation, segmentation or mixed ones. It is characterized by a longitudinal and rotational imbalance. 54 patients were analyzed and 39 out of them were operated by various approaches with anterior and posterior instrumentations during 2000 and 2012. The impossibility to appoint some patients encountered in the daily practice into the known classifications, allowed us to purpose two categories of congenital scoliosis related to the predominance of spinal deviances in the coronal and transversal views. No certain etiology of congenital scoliosis has been identified until today. The susceptibility of some polygenic defects is obvious due to the presence of a sum of defects associated to most of the congenital scoliosis cases and the rarity of the presence of a unique defect. The diagnosis requires a thorough clinical and imaging examination in order to establish an individualized therapeutic strategy. The treatment of congenital scoliosis is different from the adolescent idiopathic one. Therapeutic criteria are significantly different. It is essential to assess the difference in growth of the concavity related to the convexity when choosing a particular procedure. The magnitude of the curve and the progressive rate are fundamental issues to the surgeon PMID:26351546

  13. Molecular Pathophysiology of Congenital Long QT Syndrome.

    PubMed

    Bohnen, M S; Peng, G; Robey, S H; Terrenoire, C; Iyer, V; Sampson, K J; Kass, R S

    2017-01-01

    Ion channels represent the molecular entities that give rise to the cardiac action potential, the fundamental cellular electrical event in the heart. The concerted function of these channels leads to normal cyclical excitation and resultant contraction of cardiac muscle. Research into cardiac ion channel regulation and mutations that underlie disease pathogenesis has greatly enhanced our knowledge of the causes and clinical management of cardiac arrhythmia. Here we review the molecular determinants, pathogenesis, and pharmacology of congenital Long QT Syndrome. We examine mechanisms of dysfunction associated with three critical cardiac currents that comprise the majority of congenital Long QT Syndrome cases: 1) IKs, the slow delayed rectifier current; 2) IKr, the rapid delayed rectifier current; and 3) INa, the voltage-dependent sodium current. Less common subtypes of congenital Long QT Syndrome affect other cardiac ionic currents that contribute to the dynamic nature of cardiac electrophysiology. Through the study of mutations that cause congenital Long QT Syndrome, the scientific community has advanced understanding of ion channel structure-function relationships, physiology, and pharmacological response to clinically employed and experimental pharmacological agents. Our understanding of congenital Long QT Syndrome continues to evolve rapidly and with great benefits: genotype-driven clinical management of the disease has improved patient care as precision medicine becomes even more a reality.

  14. Genetics Home Reference: autosomal dominant congenital stationary night blindness

    MedlinePlus

    ... stationary night blindness autosomal dominant congenital stationary night blindness Enable Javascript to view the expand/collapse boxes. ... Close All Description Autosomal dominant congenital stationary night blindness is a disorder of the retina , which is ...

  15. Handicapping Conditions Associated with the Congenital Rubella Syndrome.

    ERIC Educational Resources Information Center

    Vernon, McCay; And Others

    1980-01-01

    The authors discuss the incidence of impairments diagnosed among children with congenital rubella syndrome. Approximately 73 percent are hearing impaired, at least 35 percent have congenital heart disorders, and 33 percent have visual defects. (Author)

  16. Precalcaneal congenital fibrolipomatous hamartomas: report of occurrence in half brothers.

    PubMed

    Fangman, William L; Prose, Neil S

    2004-01-01

    Precalcaneal congenital fibrolipomatous hamartomas are uncommon, congenital, nontender papules located on the medial plantar aspects of the heel. We report the occurrence of this rare disorder in two half brothers, suggesting that it may occur in a familial pattern.

  17. Frequently Asked Questions about Congenital Melanocytic Nevus (CMN)

    MedlinePlus

    ... Now Open Conference Schedule Highlights Fundraiser Advice Holiday Shopping at Amazon Happy In My Skin Congenital Nevus ... Now Open Conference Schedule Highlights Fundraiser Advice Holiday Shopping at Amazon Happy In My Skin Congenital Nevus ...

  18. Psychological Challenges Associated with Congenital Melanocytic Nevus (CMN)

    MedlinePlus

    ... Now Open Conference Schedule Highlights Fundraiser Advice Holiday Shopping at Amazon Happy In My Skin Congenital Nevus ... Now Open Conference Schedule Highlights Fundraiser Advice Holiday Shopping at Amazon Happy In My Skin Congenital Nevus ...

  19. Genetics Home Reference: congenital bile acid synthesis defect type 1

    MedlinePlus

    ... bile acid synthesis defect type 1 congenital bile acid synthesis defect type 1 Enable Javascript to view ... PDF Open All Close All Description Congenital bile acid synthesis defect type 1 is a disorder characterized ...

  20. Genetics Home Reference: congenital bile acid synthesis defect type 2

    MedlinePlus

    ... bile acid synthesis defect type 2 congenital bile acid synthesis defect type 2 Enable Javascript to view ... PDF Open All Close All Description Congenital bile acid synthesis defect type 2 is a disorder characterized ...

  1. Bacterial oncogenesis in the colon

    PubMed Central

    Dejea, Christine; Wick, Elizabeth; Sears, Cynthia L

    2013-01-01

    The human colon plays host to a diverse and metabolically complex community of microorganisms. While the colonic microbiome has been suggested to contribute to the development of colorectal cancer (CRC), a definitive link has not been made. The role in which the colon microflora could contribute to the initiation and/or progression of CRC is explored in this review. Potential mechanisms of bacterial oncogenesis are presented, along with lines of evidence derived from animal models of microbially induced CRC. Particular focus is given to the oncogenic capabilities of enterotoxigenic Bacteroides fragilis. Recent progress in defining the microbiome of CRC in the human population is evaluated, and the future challenges of linking specific etiologic agents to CRC are emphasized. PMID:23534358

  2. Crenarchaeota colonize terrestrial plant roots.

    PubMed

    Simon, H M; Dodsworth, J A; Goodman, R M

    2000-10-01

    Microorganisms that colonize plant roots are recruited from, and in turn contribute substantially to, the vast and virtually uncharacterized phylogenetic diversity of soil microbiota. The diverse, but poorly understood, microorganisms that colonize plant roots mediate mineral transformations and nutrient cycles that are central to biosphere functioning. Here, we report the results of epifluorescence microscopy and culture-independent recovery of small subunit (SSU) ribosomal RNA (rRNA) gene sequences showing that members of a previously reported clade of soil Crenarchaeota colonize both young and senescent plant roots at an unexpectedly high frequency, and are particularly abundant on the latter. Our results indicate that non-thermophilic members of the Archaea inhabit an important terrestrial niche on earth and direct attention to the need for studies that will determine their possible roles in mediating root biology.

  3. Physical stress and bacterial colonization

    PubMed Central

    Otto, Michael

    2014-01-01

    Bacterial surface colonizers are subject to a variety of physical stresses. During the colonization of human epithelia such as on the skin or the intestinal mucosa, bacteria mainly have to withstand the mechanical stress of being removed by fluid flow, scraping, or epithelial turnover. To that end, they express a series of molecules to establish firm attachment to the epithelial surface, such as fibrillar protrusions (pili) and surface-anchored proteins that bind to human matrix proteins. In addition, some bacteria – in particular gut and urinary tract pathogens – use internalization by epithelial cells and other methods such as directed inhibition of epithelial turnover to ascertain continued association with the epithelial layer. Furthermore, many bacteria produce multi-layered agglomerations called biofilms with a sticky extracellular matrix, providing additional protection from removal. This review will give an overview over the mechanisms human bacterial colonizers have to withstand physical stresses with a focus on bacterial adhesion. PMID:25212723

  4. Dietary fibre and colonic neoplasia.

    PubMed Central

    Freeman, H J

    1979-01-01

    Dietary plant fibre, or plantix, is thought to play a significant role in the pathogenesis of colon cancer in humans. It is a complex polymeric substance that has several distinct components resistant to hydrolysis by the digestive enzymes of humans. These components include cellulose, hemicelluloses, pectins, lignin, gums, mucilages and, in certain instances, algal polysaccharides. These polymers have different physicochemical properties, and recent evidence from experimental studies in animals treated with carcinogens suggests that some may exert protective effects in the intestine and others may enhance colon carcinogenesis. This review synthesizes information on the chemical composition, methods of analysis and physicochemical properties of dietary plant fibre and reviews available studies examining the role of fibre in colonic neoplasia in animals and humans. PMID:466603

  5. Colon volvulus displaced into the chest – right-sided posttraumatic hernia or congenital malformation?

    PubMed Central

    Dębek, Wojciech; Matuszczak, Ewa

    2016-01-01

    We present the case of a 13.5-year-old girl who was admitted to the Pediatric Surgery Department from the Pediatric Department of a district hospital, where she stayed because of stomachache and vomiting. Interview revealed blunt injury of the epigastrium a week ago. Chest X-ray revealed a loss of the right diaphragmatic outline, irregular radiolucency on the right side of the chest, collapsed right lung and mediastinal displacement to the left. The patient was operated on, and the surgery revealed herniation of the intestines and half of the stomach into the defect of the right dome of the diaphragm. The patient made an uneventful postoperative recovery. A small innate defect of the diaphragm can remain asymptomatic and undiagnosed as long as there is no herniation of the abdominal organs into the chest. PMID:27516794

  6. Inhibitory effect of vitamin D-binding protein-derived macrophage activating factor on DMBA-induced hamster cheek pouch carcinogenesis and its derived carcinoma cell line

    PubMed Central

    TOYOHARA, YUKIYO; HASHITANI, SUSUMU; KISHIMOTO, HIROMITSU; NOGUCHI, KAZUMA; YAMAMOTO, NOBUTO; URADE, MASAHIRO

    2011-01-01

    This study investigated the inhibitory effect of vitamin D-binding protein-derived macrophage-activating factor (GcMAF) on carcinogenesis and tumor growth, using a 9,10-dimethyl-1,2-benzanthracene (DMBA)-induced hamster cheek pouch carcinogenesis model, as well as the cytocidal effect of activated macrophages against HCPC-1, a cell line established from DMBA-induced cheek pouch carcinoma. DMBA application induced squamous cell carcinoma in all 15 hamsters of the control group at approximately 10 weeks, and all 15 hamsters died of tumor burden within 20 weeks. By contrast, 2 out of the 14 hamsters with GcMAF administration did not develop tumors and the remaining 12 hamsters showed a significant delay of tumor development for approximately 3.5 weeks. The growth of tumors formed was significantly suppressed and none of the hamsters died within the 20 weeks during which they were observed. When GcMAF administration was stopped at the 13th week of the experiment in 4 out of the 14 hamsters in the GcMAF-treated group, tumor growth was promoted, but none of the mice died within the 20-week period. On the other hand, when GcMAF administration was commenced after the 13th week in 5 out of the 15 hamsters in the control group, tumor growth was slightly suppressed and all 15 hamsters died of tumor burden. However, the mean survival time was significantly extended. GcMAF treatment activated peritoneal macrophages in vitro and in vivo, and these activated macrophages exhibited a marked cytocidal effect on HCPC-1 cells. Furthermore, the cytocidal effect of activated macrophages was enhanced by the addition of tumor-bearing hamster serum. These findings indicated that GcMAF possesses an inhibitory effect on tumor development and growth in a DMBA-induced hamster cheek pouch carcinogenesis model. PMID:22848250

  7. Inhibitory effect of vitamin D-binding protein-derived macrophage activating factor on DMBA-induced hamster cheek pouch carcinogenesis and its derived carcinoma cell line.

    PubMed

    Toyohara, Yukiyo; Hashitani, Susumu; Kishimoto, Hiromitsu; Noguchi, Kazuma; Yamamoto, Nobuto; Urade, Masahiro

    2011-07-01

    This study investigated the inhibitory effect of vitamin D-binding protein-derived macrophage-activating factor (GcMAF) on carcinogenesis and tumor growth, using a 9,10-dimethyl-1,2-benzanthracene (DMBA)-induced hamster cheek pouch carcinogenesis model, as well as the cytocidal effect of activated macrophages against HCPC-1, a cell line established from DMBA-induced cheek pouch carcinoma. DMBA application induced squamous cell carcinoma in all 15 hamsters of the control group at approximately 10 weeks, and all 15 hamsters died of tumor burden within 20 weeks. By contrast, 2 out of the 14 hamsters with GcMAF administration did not develop tumors and the remaining 12 hamsters showed a significant delay of tumor development for approximately 3.5 weeks. The growth of tumors formed was significantly suppressed and none of the hamsters died within the 20 weeks during which they were observed. When GcMAF administration was stopped at the 13th week of the experiment in 4 out of the 14 hamsters in the GcMAF-treated group, tumor growth was promoted, but none of the mice died within the 20-week period. On the other hand, when GcMAF administration was commenced after the 13th week in 5 out of the 15 hamsters in the control group, tumor growth was slightly suppressed and all 15 hamsters died of tumor burden. However, the mean survival time was significantly extended. GcMAF treatment activated peritoneal macrophages in vitro and in vivo, and these activated macrophages exhibited a marked cytocidal effect on HCPC-1 cells. Furthermore, the cytocidal effect of activated macrophages was enhanced by the addition of tumor-bearing hamster serum. These findings indicated that GcMAF possesses an inhibitory effect on tumor development and growth in a DMBA-induced hamster cheek pouch carcinogenesis model.

  8. Topical chlorophyll-pheophytin derivative-mediated photodynamic therapy for DMBA-induced hamster buccal pouch premaligant lesions: an in vivo study

    NASA Astrophysics Data System (ADS)

    Hsu, Yih-Chih; Chiang, Chung-Pin; Chen, Jian Wen; Lee, Jeng-Woei; How, Mon-Hsin

    2010-02-01

    In Taiwan, oral cancer has become a prominent cancer because of its highest annual increase rate among all cancer diseases. Betel quid chewing habit is a major risk factor for oral precancerous and cancerous lesions and there are more than two million people who have this habit in Taiwan. Our previous studies showed that chlorophyll-pheophytin derivative (CPD)-mediated PDT is very effective for killing of SCC-4 cell lines in vitro. In order to decrease the systemic phototoxic effect of CPD, this study was designed to use a topical CPD-mediated PDT for treatment of DMBA-induced hamster buccal pouch precancerous lesions. DMBA was applied to one of the buccal pouches of hamsters thrice a week for 8 to 10 weeks. Precancerous lesions of moderate to severe dysplasia were induced and proven by histological examination. These induced precancerous lesions were used for testing the efficacy of topical CPD-mediated PDT. Before PDT, fluorescence spectroscopy was used to determine when CPD reached its peak level in the lesional epithelial cells after topical application of CPD gel. We found that CPD reached its peak level in precancerous lesions about 1 hour (range, 0 to 30 hours) after topical application of CPD gel. The precancerous lesions in hamsters were then treated with topical CPD-mediated PDT (fluence rate: 200 mW/cm2; light exposure dose 100 J/cm2) using the portable WonderLight LED 635 nm fiber-guided light device once or twice a week. Visual and histological examination demonstrated that topical CPD-mediated PDT was partially effective treatment modality for DMBA-induced hamster buccal pouch precancerous lesions.

  9. Cytogenomic Aberrations in Congenital Cardiovascular Malformations

    PubMed Central

    Azamian, Mahshid; Lalani, Seema R.

    2016-01-01

    Congenital cardiovascular malformations are the most common birth defects, with a complex multifactorial etiology. Genetic factors play an important role, illuminated by numerous cytogenetically visible abnormalities, as well as submicroscopic genomic imbalances affecting critical genomic regions in the affected individuals. Study of rare families with Mendelian forms, as well as emerging next-generation sequencing technologies have uncovered a multitude of genes relevant for human congenital cardiac diseases. It is clear that the complex embryology of human cardiac development, with an orchestrated interplay of transcription factors, chromatin regulators, and signal transduction pathway molecules can be easily perturbed by genomic imbalances affecting dosage-sensitive regions. This review focuses on chromosomal abnormalities contributing to congenital heart diseases and underscores several genomic disorders linked to human cardiac malformations in the last few decades. PMID:27385961

  10. Congenital narrowing of the cervical spinal canal.

    PubMed Central

    Kessler, J T

    1975-01-01

    The clinical and laboratory findings in six patients with congenital narrowing of the cervical spinal canal and neurological symptoms are described. A variable age of onset and an entirely male occurrence were found. Signs and symptoms of spinal cord dysfunction predominated in all but one patient. Symptoms were produced in five patients by increased physical activity alone. Congenital narrowing of the cervical spinal canal may result in cord compression without a history of injury and occasionally without evidence of significant bony degenerative changes. The clinical features may be distinguishable from those found in cervical spondylosis without congenital narrowing. Intermittent claudication of the cervical spinal cord appears to be an important feature of this syndrome. Surgery improved four out of five people. PMID:1219087

  11. New Genetic Insights into Congenital Heart Disease

    PubMed Central

    Ware, Stephanie M.; Jefferies, John Lynn

    2012-01-01

    There has been remarkable progress in understanding the genetic basis of cardiovascular malformations. Chromosome microarray analysis has provided a new tool to understand the genetic basis of syndromic cardiovascular malformations resulting from microdeletion or microduplication of genetic material, allowing the delineation of new syndromes. Improvements in sequencing technology have led to increasingly comprehensive testing for aortopathy, cardiomyopathy, single gene syndromic disorders, and Mendelian-inherited congenital heart disease. Understanding the genetic etiology for these disorders has improved their clinical recognition and management and led to new guidelines for treatment and family-based diagnosis and surveillance. These new discoveries have also expanded our understanding of the contribution of genetic variation, susceptibility alleles, and epigenetics to isolated congenital heart disease. This review summarizes the current understanding of the genetic basis of syndromic and non-syndromic congenital heart disease and highlights new diagnostic and management recommendations. PMID:22822471

  12. Deprivation amblyopia and congenital hereditary cataract.

    PubMed

    Mansouri, Behzad; Stacy, Rebecca C; Kruger, Joshua; Cestari, Dean M

    2013-01-01

    Amblyopia is a neurodevelopmental disorder of vision associated with decreased visual acuity, poor or absent stereopsis, and suppression of information from one eye.(1,2) Amblyopia may be caused by strabismus (strabismic amblyopia), refractive error (anisometropic amblyopia), or deprivation from obstructed vision (deprivation amblyopia). 1 In the developed world, amblyopia is the most common cause of childhood visual impairment, 3 which reduces quality of life 4 and also almost doubles the lifetime risk of legal blindness.(5, 6) Successful treatment of amblyopia greatly depends on early detection and treatment of predisposing disorders such as congenital cataract, which is the most common cause of deprivational amblyopia. Understanding the genetic causes of congenital cataract leads to more effective screening tests, early detection and treatment of infants and children who are at high risk for hereditary congenital cataract.

  13. Treatment of Common Congenital Hand Conditions

    PubMed Central

    Oda, Takashi; Pushman, Allison G.; Chung, Kevin C.

    2015-01-01

    Objective After reading this article, the participant should be able to: 1. Recognize the clinical features associated with five common congenital hand conditions. 2. Describe the indications and appropriate timing for various surgical procedures used to treat congenital hand anomalies. 3. Identify the pearls and pitfalls of these surgical treatments in order to avoid complications. 4. Understand the expected post-operative outcomes associated with these surgical procedures. Summary This article will provide an introduction to congenital hand differences by focusing on practical surgical strategies for treating five commonly encountered conditions including syndactyly, constriction ring syndrome, duplicated thumb, hypoplastic thumb and trigger thumb. The accompanying videos will demonstrate common and reliable surgical techniques for syndactyly release, duplicated thumb reconstruction and pollicization for hypoplastic thumb. PMID:20811188

  14. Congenital malformations of the brain and spine.

    PubMed

    Shankar, Prashant; Zamora, Carlos; Castillo, Mauricio

    2016-01-01

    In this chapter we briefly address the most common congenital brain and spinal anomalies as well as their most salient imaging, especially magnetic resonance, findings. Some of them, such as Chiari II, and open spinal defects, have become relatively rare due to their detection in utero and repair of the spinal malformation. Regardless of the type of brain anomaly, the most common clinical symptoms are mental retardation, hydrocephalus, and seizure; the latter two may need to be surgically and medically addressed. The most commonly found spinal congenital anomalies include the filum terminale lipoma which is generally asymptomatic and incidental and the caudal regression syndrome for which no primary treatment exists. Any spinal congenital anomaly may present in adulthood as a consequence of spinal cord tethering and/or development of syringomyelia.

  15. Pulmonary Hypertension in Congenital Heart Disease: Beyond Eisenmenger Syndrome.

    PubMed

    Krieger, Eric V; Leary, Peter J; Opotowsky, Alexander R

    2015-11-01

    Patients with adult congenital heart disease have an increased risk of developing pulmonary hypertension. There are several mechanisms of pulmonary hypertension in patients with adult congenital heart disease, and understanding them requires a systematic approach to define the patient's hemodynamics and physiology. This article reviews the updated classification of pulmonary hypertension in patients with adult congenital heart disease with a focus on pathophysiology, diagnostics, and the evaluation of pulmonary hypertension in special adult congenital heart disease populations.

  16. Congenital chylothorax in newborn with trisomy 21.

    PubMed

    Lomauri, Kh

    2014-11-01

    Neonatal chylothorax results from the accumulation of chyle in the pleural space and may be either congenital or an acquired condition. Congenital chylothorax is most likely due to abnormal development or obstruction of the lymphatic system. It is often associated with hydrops fetalis. It can be idiopathic or may be associated with various chromosomal anomalies including Trisomy 21, Turner syndrome, Noonan syndrome, and other genetic abnormalities. Congenital pulmonary lymphangiectasia and generalized lymphangiomatosis have also been reported to be associated with congenital chylothorax. Several case reports indicate that congenital chylothorax can recur in subsequent offspring, suggesting a possible underlying genetic etiology. It is important to identify infants with chylothorax, as there are specific issues that need to be addressed in the management of these patients. We present a case of newborn with trysomy 21 (trisomy 21 was diagnosed antenatally by amniocentesis with support of Association "Perinatology"), who developed moderate Respiratory Distress Syndrome, chest X-ray and US reveal pleural effusion on right side rapid intervention was made before deterioration, requiring intensive life-saving measures. In the neonate, chylous effusion is not a common cause of pleural effusions. It is characterized as an exudate because of the high protein and lipid content once the infant is fed. The fluid will be clear/yellow to slightly cloudy in the unfed state and will quickly become milky following feeding, as chylomicrons appear in the fluid. Lymphocytes predominate in the differential cell count of chyle. The volume of fluid output can be high, and management can be challenging. We review the common manifestations of congenital chylotoraxes and emphasize the importance of early diagnosis and intervention in preventing devastating outcomes from this condition.

  17. Air pollution and congenital heart defects.

    PubMed

    Agay-Shay, Keren; Friger, Michael; Linn, Shai; Peled, Ammatzia; Amitai, Yona; Peretz, Chava

    2013-07-01

    Environmental factors such as ambient air pollution have been associated with congenital heart defects. The aim of this study was to investigate the association between gestational exposure to air pollution and the risk of congenital heart defects. We conducted a registry-based cohort study with a total of 135,527 live- and still-births in the Tel-Aviv region during 2000-2006. We used a Geographic Information System-based spatiotemporal approach with weekly inverse distance weighting modeling to evaluate associations between gestational exposure to ambient air pollution during weeks 3-8 of pregnancy and the risk for congenital heart defects. The following pollutants were studied: carbon monoxide, nitrogen-dioxide, ozone, sulfur-dioxide and particulate matter with aerodynamic diameter smaller than 10 μm and 2.5 μm (PM10, PM2.5 respectively). Logistic models, adjusted for socio-demographic covariates were used to evaluate the associations. We found that maternal exposure to increased concentrations of PM10 was associated with multiple congenital heart defects (adjusted OR 1.05, 95% CI: 1.01 to 1.10 for 10 μg/m(3) increment). An inverse association was observed between concentrations of PM2.5 and isolated patent ductus arteriosus (adjusted OR 0.78, 95% CI: 0.68 to 0.91 for 5 µg/m(3) increment). Sensitivity analyses showed that results were consistent. Generally there were no evidence for an association between gaseous air pollutants and congenital heart defects.Our results for PM10 and congenital heart defects confirm results from previous studies. The results for PM2.5 need further investigations.

  18. Epidemiology of congenital heart disease in Brazil

    PubMed Central

    Pinto Júnior, Valdester Cavalcante; Branco, Klébia Magalhães P. Castello; Cavalcante, Rodrigo Cardoso; Carvalho Junior, Waldemiro; Lima, José Rubens Costa; de Freitas, Sílvia Maria; Fraga, Maria Nazaré de Oliveira; de Souza, Nayana Maria Gomes

    2015-01-01

    Introduction Congenital heart disease is an abnormality in the structure or cardiocirculatory function, occurring from birth, even if diagnosed later. It can result in intrauterine death in childhood or in adulthood. Accounted for 6% of infant deaths in Brazil in 2007. Objective To estimate underreporting in the prevalence of congenital heart disease in Brazil and its subtypes. Methods The calculations of prevalence were performed by applying coefficients, giving them function rates for calculations of health problems. The study makes an approach between the literature and the governmental registries. It was adopted an estimate of 9: 1000 births and prevalence rates for subtypes applied to births of 2010. Estimates of births with congenital heart disease were compared with the reports to the Ministry of Health and were studied by descriptive methods with the use of rates and coefficients represented in tables. Results The incidence in Brazil is 25,757 new cases/year, distributed in: North 2,758; Northeast 7,570; Southeast 10,112; South 3,329; and Midwest 1,987. In 2010, were reported to System of Live Birth Information of Ministry of Health 1,377 cases of babies with congenital heart disease, representing 5.3% of the estimated for Brazil. In the same period, the most common subtypes were: ventricular septal defect (7,498); atrial septal defect (4,693); persistent ductus arteriosus (2,490); pulmonary stenosis (1,431); tetralogy of Fallot (973); coarctation of the aorta (973); transposition of the great arteries (887); and aortic stenosis 630. The prevalence of congenital heart disease, for the year of 2009, was 675,495 children and adolescents and 552,092 adults. Conclusion In Brazil, there is underreporting in the prevalence of congenital heart disease, signaling the need for adjustments in the methodology of registration. PMID:26107454

  19. Late-onset fistula presenting as buttock abscess in two patients with ileo-anal J-pouches for ulcerative colitis.

    PubMed

    Banerjee, S; Farquharson, M; Cecil, T D; Gold, D; Moran, B J

    2004-03-01

    Two cases are described of patients who presented with a buttock abscess 3 and 5 years after restorative proctocolectomy for ulcerative colitis. In both the abscess was secondary to a fistula, which was shown on further investigation to be a track traversing the greater sciatic notch. Both patients had had an ileo-anal J-pouch after a proctectomy which had included a mesorectal excision. The possibility that these unusual fistulae might be more common following removal of the mesorectum rather than a close rectal dissection is explored.

  20. Segmentation and segment connection of obstructed colon

    NASA Astrophysics Data System (ADS)

    Medved, Mario; Truyen, Roel; Likar, Bostjan; Pernus, Franjo

    2004-05-01

    Segmentation of colon CT images is the main factor that inhibits automation of virtual colonoscopy. There are two main reasons that make efficient colon segmentation difficult. First, besides the colon, the small bowel, lungs, and stomach are also gas-filled organs in the abdomen. Second, peristalsis or residual feces often obstruct the colon, so that it consists of multiple gas-filled segments. In virtual colonoscopy, it is very useful to automatically connect the centerlines of these segments into a single colon centerline. Unfortunately, in some cases this is a difficult task. In this study a novel method for automated colon segmentation and connection of colon segments' centerlines is proposed. The method successfully combines features of segments, such as centerline and thickness, with information on main colon segments. The results on twenty colon cases show that the method performs well in cases of small obstructions of the colon. Larger obstructions are mostly also resolved properly, especially if they do not appear in the sigmoid part of the colon. Obstructions in the sigmoid part of the colon sometimes cause improper classification of the small bowel segments. If a segment is too small, it is classified as the small bowel segment. However, such misclassifications have little impact on colon analysis.

  1. Giant congenital diverticulum of the right atrium.

    PubMed

    Tomar, Munesh; Radhakrishnan, Sitaraman; Iyer, Krishna Subramony; Shrivastava, Savitri

    2008-01-01

    Congenital diverticulum of heart is a rare entity, which may arise from the atria, atrial appendages, coronary sinus or the ventricles. A 3-year-old child presented with history of early fatigability for 6 months and recent upper respiratory tract infection. Chest X-ray and echocardiogram revealed marked right atrial enlargement. At surgery, a right atrial diverticulum was excised under cardiopulmonary bypass. Pathology revealed thickened endocardium with edema and myocardial fiber hypertrophy. Our experience with this rare congenital disease is presented along with a review of the literature.

  2. New approaches to managing congenital diaphragmatic hernia.

    PubMed

    Ivascu, Felicia A; Hirschl, Ronald B

    2004-06-01

    A number of new techniques have been studied for managing newborns with congenital diaphragmatic hernia and respiratory insufficiency. Among these have been the techniques of delayed approach to the repair of the diaphragmatic hernia; permissive hypercapnia; nitric oxide and surfactant administration; intratracheal pulmonary ventilation; liquid ventilation; perfluorocarbon-induced lung growth; and lung transplantation. These interventions are at various stages of development and evaluation of effectiveness. All, however, are being explored in the hopes of improving outcome in patients with congenital diaphragmatic hernia who continue to have significant morbidity and mortality in the newborn period.

  3. Bone lesions in early congenital syphilis.

    PubMed

    Rosen, E U; Solomon, A

    1976-01-31

    A radiological study of bone changes in 112 children with congenital syphilis was undertaken. A similar number of normal children acted as a control group. Radiological examination of 5 syphilitic children showed that their bones were normal. Combined metaphyseal and periosteal lesions were the commonest bone disorders seen and are thus the most convincing radiological evidence of congenital syphilis. Transverse metaphyseal lucencies occur early in the disease, and with Wimburger's sign they are the prime evidence of pathology in syphilitic bone. Other radiographic changes are probably owing to minimal trauma in fragile disorganized bone. The occurrence of periosteal lesions alone has also been evaluated.

  4. [Radionuclide studies of congenital kidney abnormalities].

    PubMed

    Vlakhov, N

    1984-06-01

    Using the potentialities of isotope nephrograms as a screening test a total of 4746 patients suspected of renal abnormalities were examined. The author established pathological deviations in 561 cases (11.8%). During further verification using scintigraphy unsuspected congenital renal abnormalities (aplasia, hypoplasia, dystopia, double kidney, horseshoe kidney, solitary cyst and polycystic renal disease) were found in 46 patients (8.2%). The diagnosis was confirmed at subsequent venous x-ray urography. A conclusion has been made as to the role of comprehensive nephrographic-scintigraphic examination in the diagnosis of congenital renal abnormalities.

  5. Congenital agminated melanocytic nevus - case report*

    PubMed Central

    da Rocha, Camila Roos Mariano; Grazziotin, Thaís Corsetti; Rey, Maria Carolina Widholzer; Luzzatto, Laura; Bonamigo, Renan Rangel

    2013-01-01

    Agminated nevus is a cluster group of melanocytic nevi confined to a localized area of the body. There are many pigmented lesions described in the literature as agminated, such as blue nevi, multiple lentigines and Spitz nevi, but only a few cases of congenital agminated melanocytic nevi have been described. We report a case of a male child who presented with congenital agminated nevi, emphasizing the importance of physical examination, dermoscopy, histopathological evaluation, differential diagnosis and follow up to rule out the possibility of dysplastic or malignant changes. PMID:24346910

  6. Leber's congenital amaurosis associated with hyperthreoninemia.

    PubMed

    Hayasaka, S; Hara, S; Mizuno, K; Narisawa, K; Tada, K

    1986-04-15

    Two siblings had Leber's congenital amaurosis. The girl (Patient 1) showed blindness shortly after birth, absent pupillary light reflex, and multiple round, white spots in both fundi. Her serum threonine level was increased (2.0 to 5.3 mg/dl; normal, 0.78 to 1.82 mg/dl). She died of massive pericardial effusion four months after birth. Her brother (Patient 2) was nearly blind shortly after birth. He had a poor pupillary light reflex and a nearly extinguished electroretinographic response. He also had hyperthreoninemia, hyperthreoninuria, hepatomegaly, and mental and physical retardation. We suspect a close relationship between hyperthreoninemia and Leber's congenital amaurosis in these siblings.

  7. Leber's congenital amaurosis associated with mitochondrial dysfunction.

    PubMed

    Castro-Gago, M; Pintos-Martínez, E; Beiras-Iglesias, A; Maroto, S; Campos, Y; Arenas, J; Eirís-Puñal, J

    1996-03-01

    We report the case histories of two 6-month-old girls, both with young, nonconsanguineous parents, referred to us for suspected blindness. In both cases, Leber's congenital amaurosis was diagnosed. Due to persistently high lactic acid levels in blood, muscle biopsies were taken. Analysis of biopsies revealed that both patients had low levels of complex IV of the mitochondrial respiratory chain; one patient additionally had low levels of complex III. Microscopic and ultrastructural alterations of muscle, typically observed in mitochondrial disorders, were observed only in the second patient. These observations raise the possibility that at least some cases of Leber's congenital amaurosis may be due to alterations in the mitochondrial respiratory chain.

  8. Congenital glaucoma in cutis marmorata teleangiectatica congenita.

    PubMed

    Mayatepek, E; Krastel, H; Völcker, H E; Pfau, B; Almasan, K

    1991-01-01

    A case of congenital glaucoma in cutis marmorata teleangiectatica congenita (CMTC, van Lohuizen syndrome) is described. The cutaneous anomaly and heterochromia iridium were noticed at birth. Brown discoloration of one iris was due to iris anterior layer dysplasia, resulting in unilateral glaucoma. Two trabeculotomies were performed until persistent normalization of intraocular pressure could be achieved. The possibility of a genetic basis and hereditary condition of CMTC and its association with congenital glaucoma is discussed. Patients with CMTC should regularly undergo ophthalmological follow-up to rule out development of glaucoma.

  9. NEW BORN SCREENING IN PREVENTING CONGENITAL HYPOTHYROIDISM.

    PubMed

    Ali, Mazahir; Zia, Aisha; Siddiqui, Saad Ebrahim

    2015-01-01

    Congenital Hypothyroidism is one of the most common preventable causes of mental retardation which is highly prevalent in our society due to lack of a national neonatal screening program, lack of education of the parents, increased consanguinity, and lack of suspicion from doctor's leads to delayed diagnosis and an increased incidence of congenital hypothyroidism in our society. This Menace can be easily tackled with a mass neonatal screening program and effective legislation which would make sure that serious efforts are being made to eradicate this preventable disease from Pakistan.

  10. Congenital malformations of the temporal bone.

    PubMed

    Mukerji, Shraddha S; Parmar, Hemant A; Ibrahim, Mohannad; Mukherji, Suresh K

    2011-08-01

    Congenital ear or temporal bone malformations are a diagnostic challenge to radiologists and surgeons alike. Newer imaging techniques can detect subtle changes in middle ear and cochlear anatomy. This information is invaluable with increasing use of hearing restoration surgeries and/or cochlear implants in such patients. This article discusses the embryogenesis, classification system, and salient imaging findings of congenital outer, middle ear, and inner ear anomalies in children. Both high-resolution computerized tomography and magnetic resonance imaging scans of the temporal bones are described.

  11. Congenital Absence of the Internal Carotid Artery

    SciTech Connect

    Florio, Francesco; Balzano, Silverio; Nardella, Michele; Strizzi, Vincenzo; Cammisa, Mario; Bozzini, Vincenzo; Catapano, Giuseppe; D'Angelo, Vincenzo

    1999-01-15

    We report three cases of congenital absence of an internal carotid artery (ICA), diagnosed incidentally by digital subtraction angiography. The analysis of the cases is based on the classification of segmental ICA agenesis proposed by Lasjaunias and Berenstein. Usually the patients with this rare vascular anomaly are asymptomatic; some may have symptoms related to cerebrovascular insufficiency, compression by enlarged intracranial collateral vessels, or complications associated with cerebral aneurysms. Diagnosis of congenital absence of ICA is made by skull base computed tomography (CT) scan, CT and magnetic resonance angiography, and conventional or digital subtraction angiography.

  12. Congenital color blindness in young Turkish men.

    PubMed

    Citirik, Mehmet; Acaroglu, Golge; Batman, Cosar; Zilelioglu, Orhan

    2005-04-01

    We investigated a healthy population of men from different regions of Turkey for the presence of congenital red-green color blindness. Using Ishihara pseudoisochromatic plates, 941 healthy men from the Turkish army were tested for congenital red-green color blindness. The prevalence of red-green color blindness was 7.33 +/- 0.98% (5.10% protans and 2.23% deutans). These ratios were higher than other reported samples from Mediterranean Europe. Higher percentages of color blindness were found in regions with a lower education level and more consanguineous marriages.

  13. Congenital dislocation of the patella - clinical case.

    PubMed

    Miguel Sá, Pedro; Raposo, Filipa; Santos Carvalho, Manuel; Alegrete, Nuno; Coutinho, Jorge; Costa, Gilberto

    2016-01-01

    Congenital patellar dislocation is a rare condition in which the patella is permanently dislocated and cannot be reduced manually. The patella develops normally as a sesamoid bone of the femur. This congenital dislocation results from failure of the internal rotation of the myotome that forms the femur, quadriceps muscle and extensor apparatus. It usually manifests immediately after birth, although in some rare cases, the diagnosis may be delayed until adolescence or adulthood. Early diagnosis is important, thereby allowing surgical correction and avoiding late sequelae, including early degenerative changes in the knee. A case of permanent dislocation of the patella is presented here, in a female child aged seven years.

  14. Congenital Minamata disease: warnings from Japan's experience.

    PubMed

    Kondo, K

    2000-07-01

    Minamata disease is alkylmercury poisoning causing Hunter-Russell syndrome due to ingestion of seafood polluted by industrial waste. Two epidemics occurred in Minamata (1956) and Niigata (1965), Japan. Many infants with "cerebral palsy" in villages where adult cases occurred were established as having congenital Minamata disease. Developing brains were affected by alkylmercury through transplacental exposure and even by breastfeeding. This report reviews the history, clinical features, pathology, epidemiology, metal analysis, experiments, and sociolegal aspects of congenital Minamata disease. Many victims are still alive and their present conditions are reviewed.

  15. Giant congenital diaphragmatic hernia in an adult

    PubMed Central

    2014-01-01

    Bochdalek hernia is the most common type of congenital diaphragmatic hernia. It appears frequently in infants but rarely in adults. We present the case of a 50-year-old female han patient with tremendous left-sided congenital posterolateral diaphragmatic hernia (Bochdalek hernia) who also has a pair of supernumerary breasts and pulmonary hypoplasia of the lower-left lobe. The patient had an experience of misdiagnosis and she was treated for bronchitis for one year until being admitted to our hospital. This case study emphasizes the rare presentation of Bochdalek hernia in adults and the necessity of high clinical attention to similar cases. PMID:24512974

  16. Acquired Congenital Malalignment of the Great Toenails

    PubMed Central

    Decker, Ashley; Scher, Richard K.; Avarbock, Andrew

    2016-01-01

    Congenital malalignment is the lateral deviation of the nail plate along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges caused by repeated microtrauma to the nail. Common complications include onychomycosis, Pseudomonas infection and acute or chronic paronychia. Treatment options range from conservative management to surgical options including realignment and nail matrixectomy. Congenital malalignment usually presents in infancy or childhood, but we present two cases of acquired malalignment occurring in the teenage years. PMID:27171597

  17. Radiographic findings in congenital lead poisoning

    SciTech Connect

    Pearl, M.; Boxt, L.M.

    1980-07-01

    Because lead crosses the placenta throughout pregnancy, the fetus is at risk for lead poisoning. A full term, asymptomatic child was born with congenital lead poisoning secondary to maternal pica. Radiographic findings of a dense cranial vault, lead lines, and delayed skeletal and deciduous dental development were noted at birth. After chelation therapy, when the patient was seven months old, radiographs revealed normal skeletal maturation. Tooth eruption did not occur until 15 months of age. Newborn infants with these radiographic findings should be screened for subclinical, congenital lead poisoning.

  18. [Congenital lobar hyperinflation: conservative management as an alternative therapy].

    PubMed

    Hermoso Torregrosa, C; Moreno Medinilla, E; Pérez Ruiz, E; Caro Aguilera, P; Pérez Frías, F J

    2014-07-01

    Congenital lobar emphysema used to be treated surgically. Congenital lobar hyperinflation is the currently recommended term, as it involves pathologically healthy lung tissue, which is why conservative management may be an option. Four cases of diagnosed congenital lobar hyperinflation are presented in which conservative treatment was chosen due to their clinical stability. Their outcome has been satisfactory with progressively normal radiology.

  19. Congenital torticollis caused by unilateral absence of the sternocleidomastoid muscle.

    PubMed

    Raman, Subha; Takhtani, Deepak; Wallace, E Christine

    2009-01-01

    Congenital torticollis is most commonly caused by benign fibrosis of the sternocleidomastoid muscle. Absence of the sternocleidomastoid muscle is a rare cause of congenital torticollis. There have been fewer than a dozen reported cases of agenesis of the sternocleidomastoid muscle. We describe a case of congenital absence of the sternocleidomastoid diagnosed by US and confirmed on MRI.

  20. Symptoms of Autism among Children with Congenital Deafblindness

    ERIC Educational Resources Information Center

    Dammeyer, Jesper

    2014-01-01

    Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported concerning individuals with congenital deafblindness.…