WorldWideScience

Sample records for evaluation congenital gastrointestinal

  1. Radiological evaluation congenital gastrointestinal tract anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Young Hee; Kim, Ock [Hanil Hospital, Seoul (Korea, Republic of); Jang, Jung Wha [Seoul Nationl Hospital, Seoul (Korea, Republic of)

    1983-06-15

    With the improvements, during recent years, in the control of the infections and nutritional diseases the subject of congenital malformation becomes of increasing importance. The radiologic signs are crucial for prompt diagnosis of anomalies of alimentary tract and with early identification of resulting complication, surgical therapy is usually life-saving. 30 cases of congenital anomalies of alimentary tract in infants were reviewed in respect of age, sex, incidence and radiological findings. The results are summarized as follows; 1, The most common lesion was hypertrophic pyloric stenosis, followed by congenital megacolon and anorectal anomaly, tracheoesophageal fistula, intestinal atresia. 2. Male outnumbered female in most congenital anomalies of alimentary tract. 25 cases were under the age of 1 month. 3. Common symptoms of upper gastrointestinal tract obstruction are vomiting and abdominal distension. In the obstruction of lower gastrointestinal tract, abdominal distension and failure of meconium passage were noted. 4. Roentgenologic findings were as follows, a. Chest A-P and lateral view: In tracheoesophageal fistula, saccular dilatation of upper esophagus and displacement of trachea anterolaterally were the most common finding. b. Simple abdomen: Obstructive pattern of proximal portion of duodenum shows in 11 cases, of distal bowel shows in 16 cases. Duodenal atresia showed 'double bubble' sign, hypertrophic pyloric stenosis showed marked gastric distension, paucity of air in small bowel and increases gastric peristalsis were the most common findings. Hirschsprung's disease showed absenced of rectal gas almostly. The variable length between blind hindgut to anus was seen in anorectal anomalies. c. Esophagogram: Blind sac of upper esophagus was seen at the 4th thoracic spinal level and displacement of trachea anterolaterally. 1 case of tracheoesophageal fistula had an intact esophageal lumen. d. Upper G-I series: In hypertrophic pyloric

  2. Congenital portosystemic shunts with and without gastrointestinal bleeding - case series

    Energy Technology Data Exchange (ETDEWEB)

    Gong, Ying; Chen, Jun; Chen, Qi; Ji, Min; Pa, Mier; Qiao, Zhongwei [Children' s Hospital of Fudan University, Department of Radiology, Shanghai (China); Zhu, Hui [Fudan University Shanghai Cancer Center, Department of Radiology, Shanghai (China); Zheng, Shan [Children' s Hospital of Fudan University, Department of Surgery, Shanghai (China)

    2015-12-15

    The clinical presentation of congenital portosystemic shunt is variable and gastrointestinal bleeding is an uncommon presentation. To describe the imaging features of congenital portosystemic shunt as it presented in 11 children with (n = 6) and without gastrointestinal bleeding (n = 5). We performed a retrospective study on a clinical and imaging dataset of 11 children diagnosed with congenital portosystemic shunt. A total of 11 children with congenital portosystemic shunt were included in this study, 7 with extrahepatic portosystemic shunts and 4 with intrahepatic portosystemic shunts. Six patients with gastrointestinal bleeding had an extrahepatic portosystemic shunt, and the imaging results showed that the shunts originated from the splenomesenteric junction (n = 5) or splenic vein (n = 1) and connected to the internal iliac vein. Among the five cases of congenital portosystemic shunt without gastrointestinal bleeding, one case was an extrahepatic portosystemic shunt and the other four were intrahepatic portosystemic shunts. Most congenital portosystemic shunt patients with gastrointestinal bleeding had a shunt that drained portal blood into the iliac vein via an inferior mesenteric vein. This type of shunt was uncommon, but the concomitant rate of gastrointestinal bleeding with this type of shunt was high. (orig.)

  3. Peculiarities of surgical treatment of gastrointestinal tract combined congenital malformations in newborns

    OpenAIRE

    М. О. Makarova

    2017-01-01

    Congenital gastrointestinal (GI) malformations make up 21–25 % of all congenital anomalies and require surgical correction in the neonatal period. The aim was to analyze the methods of operative treatment of hard composite congenital gastrointestinal malformations in infants. Materials and Methods: There were 13 newborns with gastroschisis, omphalocele and esophageal atresia combined with intestinal atresia, anal atresia and also with congenital heart defects in our study. Results...

  4. Multiple Congenital Colonic Stenosis: A Rare Gastrointestinal Malformation

    Directory of Open Access Journals (Sweden)

    Zambaiti Elisa

    2016-01-01

    Full Text Available Congenital colonic stenosis is a rare pediatric condition. Since 1968, only 16 cases have been reported in the literature. To the authors’ knowledge, multiple congenital colonic stenosis has not been previously reported in the literature. We report the case of a 2-month-old male, presented at our Neonatal Intensive Care Unit with a suspicion of intestinal malrotation. Clinical examination revealed persistent abdominal distension. During the enema examination, the contrast medium appeared to fill the lumen of the colon up to three stenotic segments and could not proceed further. Intraoperatively we confirmed the presence of four types of colonic atresia, located in the ascending, transverse, and descending colon, respectively, plus appendix atresia. First surgical steps consisted in resection of proximal stenotic segment, appendix removal, proximal cecostomy, and distal colostomy on ascending colon in order to preserve colonic length. Histopathological examination confirmed the diagnosis of colonic stenosis. Final surgical step consisted in multiple colocolostomy and enteroplasty. A planned two-stage procedure, consisting of resection with colostomy for decompression as the first step and a later anastomosis, is recommended in order to allow bowel length preservation.

  5. Peculiarities of surgical treatment of gastrointestinal tract combined congenital malformations in newborns

    Directory of Open Access Journals (Sweden)

    М. О. Makarova

    2017-04-01

    Full Text Available Congenital gastrointestinal (GI malformations make up 21–25 % of all congenital anomalies and require surgical correction in the neonatal period. The aim was to analyze the methods of operative treatment of hard composite congenital gastrointestinal malformations in infants. Materials and Methods: There were 13 newborns with gastroschisis, omphalocele and esophageal atresia combined with intestinal atresia, anal atresia and also with congenital heart defects in our study. Results. We have designed new preoperative care strategies for the newborns. All combined GI defects were corrected in one step. In gastroschisis and omphalocele in combination with small intestine atresia we made a plastic of anterior abdominal wall, bowel segment resection and anastomosis end-to-end. In esophageal atresia and atresia of the anus direct esophago-esophagoanastomosis was applied with suturing of tracheoesophageal fistula, also in two patients proctoplasty by Pena 2 was carried out, and in one patient with high anal atresia colostomy was applied, which was closed in the age of 6 months. In case of esophageal atresia combined with small intestine atresia direct esophago-esophagoanastomosis with tracheoesophageal fistula suturing was carried out, and resection of the bowel segment with anastomosis end-to-end was applied. In a patient with a combination of esophageal atresia and duodenal obstruction esophagoplasty and closure of tracheoesophageal fistula with anastomosis by Kimur was made. Preference was given to the combined anesthesia with neuraxial blockade. Postoperative care included prolonged artificial lung ventilation, anesthesia, parenteral nutrition, antibacterial and antifungal medicines. Conclusions. One-step correction of the congenital GI malformations in newborns is effective and it gives opportunity to achieve the best results with a single surgical intervention. Extremely important links of the combined GI defects therapy is timely and balanced

  6. Left-sided appendicitis in a patient with congenital gastrointestinal malrotation: a case report

    Directory of Open Access Journals (Sweden)

    Welte Frank J

    2007-09-01

    Full Text Available Abstract Background While appendicitis is the most common abdominal disease requiring surgical intervention seen in the emergency room setting, intestinal malrotation is relatively uncommon. When patients with asymptomatic undiagnosed gastrointestinal malrotation clinically present with abdominal pain, accurate diagnosis and definitive therapy may be delayed, possibly increasing the risk of morbidity and mortality. We present a case where CT was crucial diagnostically and helpful for pre-surgical planning in a patient presenting with an acute abdomen superimposed on complete congenital gastrointestinal malrotation. Case presentation A 46-year-old previously healthy male with four days of primarily left-sided abdominal pain, low-grade fevers, nausea and anorexia presented to the Emergency Department. His medical history was significant for poorly controlled diabetes and dyslipidemia. His white blood count at that time was elevated. Initial abdominal plain films suggested small bowel obstruction. A CT scan of the abdomen and pelvis was performed with oral and IV contrast to exclude diverticulitis, revealing acute appendicitis superimposed on congenital intestinal malrotation. Following consultation with the surgical team for surgical planning, the patient went on to laparoscopic appendectomy and did well postoperatively. Conclusion Atypical presentations of acute abdominal conditions superimposed on asymptomatic gastrointestinal malrotation can result in delays in delivery of definitive therapy and potentially increase morbidity and mortality if not diagnosed in a timely manner. Appropriate imaging can be helpful in hastening diagnosis and guiding intervention.

  7. Computed tomography evaluation of gastrointestinal bleeding and acute mesenteric ischemia.

    Science.gov (United States)

    Lee, Seung Soo; Park, Seong Ho

    2013-01-01

    Gastrointestinal bleeding and acute mesenteric ischemia are conditions that generally require an urgent and accurate diagnosis. In this setting, multidetector computed tomography (MDCT) can play an important role. This article discusses current techniques, the findings in correlation with pathophysiology, and the proper use of MDCT in the diagnostic evaluation and management of these patients. Copyright © 2013 Elsevier Inc. All rights reserved.

  8. Echocardiographic evaluation of coronary arteries in congenital heart disease.

    Science.gov (United States)

    Freire, Grace; Miller, Michelle S

    2015-12-01

    Among populations of patients with the congenital heart disease, there is considerable diversity in the anatomy of the coronary arteries. Understanding these anatomical differences is vitally important in directing interventions and surgical repair. In this report, the authors describe the echocardiographic evaluation of the variants of coronary artery anatomy in the following lesions: transposition of the great arteries, congenitally corrected transposition of the great arteries, double-inlet left ventricle, common arterial trunk, tetralogy of Fallot, and double-outlet right ventricle.

  9. Severe gastrointestinal tract bleeding in a two-month-old infant due to congenital intrahepatic arterioportal fistula

    Energy Technology Data Exchange (ETDEWEB)

    Aarts, R. [Department of Radiology, University Medical Center St. Radboud, P.O. Box 9101, 6500 HB Nijmegen (Netherlands); Ijland, M.M. [Department of Pediatrics, University Medical Center St. Radboud, P.O. Box 9101, 6500 HB Nijmegen (Netherlands); Blaauw, I. de [Department of Pediatric Surgery, University Medical Center St. Radboud, P.O. Box 9101, 6500 HB Nijmegen (Netherlands); Hoogeveen, Y. [Department of Radiology, University Medical Center St. Radboud, P.O. Box 9101, 6500 HB Nijmegen (Netherlands); Boetes, C. [Department of Radiology, University Medical Center St. Radboud, P.O. Box 9101, 6500 HB Nijmegen (Netherlands)]. E-mail: C.Boetes@rad.umcn.nl; van Proosdij, M. [Department of Radiology, University Medical Center St. Radboud, P.O. Box 9101, 6500 HB Nijmegen (Netherlands)

    2006-07-15

    A 2-month-old boy was referred for assessment of severe upper gastrointestinal tract bleeding and melena. On physical examination, a continuous murmur was heard over the right upper quadrant of the abdomen. A splenomegaly and dilated veins were also noted on the abdominal wall. Liver functions were normal. There was no history of trauma or jaundice. Doppler ultrasonography, magnetic resonance arteriography and angiography suggested the presence of an intrahepatic arteriovenous fistula between the phrenic artery and the portal vein. Management consisted of successful embolization by coiling of the phrenic artery. To our knowledge this is the first documented case report of a congenital fistula between the phrenic artery and the portal vein.

  10. Evaluation of swallowing in infants with congenital heart defect.

    Science.gov (United States)

    Pereira, Karine da Rosa; Firpo, Cora; Gasparin, Marisa; Teixeira, Adriane Ribeiro; Dornelles, Silvia; Bacaltchuk, Tzvi; Levy, Deborah Salle

    2015-01-01

    Introduction Surgical repair of congenital heart disease in the first years of life compromises the coordination of the suction, breathing, and swallowing functions. Objective To describe the alterations in swallowing found in infants with congenital heart defect during their hospitalization. Methods Prospective, cross-sectional study in a reference hospital for heart disease. The sample consisted of 19 postsurgical patients who underwent an evaluation of swallowing. The infants included were younger than 7 months and had a diagnosis of congenital heart defect and suspected swallowing difficulties. Results Of the 19 infants with congenital heart defect, the median age was 3.2 months. A significant association was found between suction rhythm and dysphagia (p = 0.036) and between oral-motor oral feeding readiness and dysphagia (p = 0.014). Conclusions The data suggest that dysphagia often occurs after surgery in infants with congenital heart defect. Infants with congenital heart defect had very similar behavior to preterm infants in terms of oral feeding readiness.

  11. Evaluation of Swallowing in Infants with Congenital Heart Defect

    Directory of Open Access Journals (Sweden)

    Pereira, Karine da Rosa

    2014-11-01

    Full Text Available Introduction Surgical repair of congenital heart disease in the first years of life compromises the coordination of the suction, breathing, and swallowing functions. Objective To describe the alterations in swallowing found in infants with congenital heart defect during their hospitalization. Methods Prospective, cross-sectional study in a reference hospital for heart disease. The sample consisted of 19 postsurgical patients who underwent an evaluation of swallowing. The infants included were younger than 7 months and had a diagnosis of congenital heart defect and suspected swallowing difficulties. Results Of the 19 infants with congenital heart defect, the median age was 3.2 months. A significant association was found between suction rhythm and dysphagia (p = 0.036 and between oral-motor oral feeding readiness and dysphagia (p = 0.014. Conclusions The data suggest that dysphagia often occurs after surgery in infants with congenital heart defect. Infants with congenital heart defect had very similar behavior to preterm infants in terms of oral feeding readiness.

  12. Evaluation of canine congenital heart disease using an echocardiographic algorithm.

    Science.gov (United States)

    Oyama, M A; Sisson, D D

    2001-01-01

    Evaluation of canine congenital heart disease presents a diagnostic challenge to many ultrasonographers. To assist clinicians attempting to examine these patients, an echocardiographic algorithm containing the six most common canine congenital heart diseases (i.e., patent ductus arteriosus, subaortic stenosis, pulmonic stenosis, ventricular septal defect, tricuspid dysplasia, and tetralogy of Fallot) is presented. The algorithm focuses on the underlying disease pathogenesis and the resultant changes in cardiac structure and function that can be readily identified during echocardiographic examination. Use of this algorithm provides a framework from which the ultrasonographer gains both experience and confidence in diagnosing congenital heart disease via echocardiography. This algorithm is supported by a number of still figures within the article as well as real-time echocardiographic images available for viewing at AAHA's website, www.aahanet.org.

  13. Evaluation of gastrointestinal motility with MRI: Advances, challenges and opportunities

    NARCIS (Netherlands)

    de Jonge, C. S.; Smout, A. J. P. M.; Nederveen, A. J.; Stoker, J.

    2018-01-01

    Dynamic magnetic resonance imaging (MRI) of gastrointestinal motility has developed rapidly over the past few years. The non-invasive and non-ionizing character of MRI is an important advantage together with the fact that it is fast and can visualize the entire gastrointestinal tract. Advances in

  14. Evaluation of Sorghum bicolor leaf base extract for gastrointestinal ...

    African Journals Online (AJOL)

    macerated with 70% v/v methanol. The aqueous methanolic extract was further fractionated into non-polar, medium polar and very polar components using hexane, ethylacetate and water (aqueous), respectively. The gastrointestinal effects of these ...

  15. Evaluation of clinicopathological features in cats with chronic gastrointestinal signs.

    Science.gov (United States)

    Gianella, P; Pietra, M; Crisi, P E; Famigli Bergamini, P; Fracassi, F; Morini, M; Boari, A

    2017-03-01

    Food-responsive enteropathy (FRE), idiopathic inflammatory bowel disease (IBD), and alimentary tract lymphoma (AL) are often the remaining differentials for cats presenting with chronic gastrointestinal (GI) signs. Differential diagnosis is further complicated by overlapping clinicopathological features and histopathological changes, however. In this study we describe the clinical presentation of cats with chronic GI signs secondary to FRE, IBD, and AL, and evaluate possible associations between clinical, clinicopathological, ultrasonographic findings and diagnosis. The medical records of client-owned cats with chronic GI signs secondary to FRE, IBD, and AL were reviewed. Univariate and multivariate logistic regression models and receiver-operating characteristic curve (ROC) analysis were used for testing the data. Of the 56 cats included in the study, 22 were diagnosed with FRE (mean age, 70 months ± 49), 17 with IBD (mean age, 101 months ± 40), and 17 with AL (mean age, 122 months ± 45). Cats with FRE were younger and presented more often with diarrhea and less frequently with muscle wasting than cats with IBD or AL. In cats with AL, serum cobalamin levels were lower than in those with FRE or IBD (239 ± 190 ng/L vs. 762 ± 408 ng/L and 625 ± 443 ng/L, respectively) and folate levels were higher than in cats with IBD (18.2 ± 4.2 μg/L vs. 9.1 ± 4.7 μg/L, respectively). Multivariate/ROC curve analysis showed increased values of BUN (sensitivity 100, specificity 29.4, criterion >37 mg/dl) and serum folate (sensitivity 80, specificity 100, criterion >15.6 μg/L) and reduced values of cobalamin (sensitivity 100, specificity 62.5, criterion ≤540 ng/L), which suggested a diagnosis of AL versus IBD. Some clinicopathological features evaluated at diagnosis might suggest AL; however, because differentiating AL from IBD is often difficult, definitive diagnosis should be based on invasive diagnostic workup.

  16. Evaluation of Sorghum bicolor leaf base extract for gastrointestinal ...

    African Journals Online (AJOL)

    PRECIOUS

    2009-11-02

    Nov 2, 2009 ... parts in the treatment of gastrointestinal problems such as diarrhoea, fluxes and stomach ache. Therefore .... (LD50) in rats, assessment based on 24 h post treatment showed a median lethal dose (LD50) ≥ 2,000 ..... The Medicinal Plants of the World, Computer index with more than 85,000 enteries, vol. 3.

  17. Mesenteric near-infrared spectroscopy and risk of gastrointestinal complications in infants undergoing surgery for congenital heart disease.

    Science.gov (United States)

    Iliopoulos, Ilias; Branco, Ricardo G; Brinkhuis, Nadine; Furck, Anke; LaRovere, Joan; Cooper, David S; Pathan, Nazima

    2016-04-01

    We hypothesised that lower mesenteric near-infrared spectroscopy values would be associated with a greater incidence of gastrointestinal complications in children weighing infrared spectroscopy, central venous oxygen saturation, and arterial blood gases for 48 hours post-operatively. Enteral feeding intake, gastrointestinal complications, and markers of organ dysfunction were monitored for 7 days. A total of 50 children, with median age of 16.7 (3.2-31.6) weeks, were studied. On admission, the average mesenteric near-infrared spectroscopy value was 71±18%, and the systemic oxygen saturation was 93±7.5%. Lower admission mesenteric near-infrared spectroscopy correlated with longer time to establish enteral feeds (r=-0.58, pinfrared spectroscopy (58±18% versus 73±17%, p=0.01) and higher mesenteric arteriovenous difference of oxygen at admission [39 (23-47) % versus 19 (4-27) %, p=0.02]. Based on multiple logistic regression, admission mesenteric near-infrared spectroscopy was independently associated with gastrointestinal complications (Odds ratio, 0.95; 95% confidence interval, 0.93-0.97; p=0.03). Admission mesenteric near-infrared spectroscopy showed an area under the receiver operating characteristic curve of 0.76 to identify children who developed gastrointestinal complications, with a suggested cut-off value of 72% (78% sensitivity, 68% specificity). In this pilot study, we conclude that admission mesenteric near-infrared spectroscopy is associated with gastrointestinal complications and enteral feeding tolerance in children after cardiac surgery.

  18. A STUDY ON ENDOSCOPIC EVALUATION OF UPPER GASTROINTESTINAL BLEEDING

    Directory of Open Access Journals (Sweden)

    Pranaya Kumar

    2016-03-01

    Full Text Available CONTEXT Upper gastrointestinal bleeding (UGIB is one of the commonest gastrointestinal emergencies encountered by clinicians. Peptic ulcers are the most common cause of UGIB. Endoscopy has become the preferred method for diagnosis in patients with acute UGIB. This study is done in a diagnostic upper gastrointestinal endoscopy (UGIE setup of a tertiary care hospital to ascertain the causes of UGIB prevalent in this part of our country which might differ from other studies. AIM To ascertain prevalent causes of UGIB in patients of this part of India admitted to a Govt. Tertiary Hospital with a provisional diagnosis of UGIB. METHOD One hundred consecutive patients with UGIB were subjected to UGIE to find out the aetiology. The clinical profile and endoscopic findings were analysed and compared with the data on UGIB from other studies. RESULTS The mean age of patients was 47.03 years with male: female ratio of 2.33:1. 58% of patients were first time bleeders. Majority of patients presented with melaena. Visualisation of active bleeding achieved to 85.7% when endoscopy was done within first 24 hrs. The commonest cause of UGIB was duodenal ulcer (DU which accounted for 41% cases. Gastric ulcer was responsible in 13% of cases. Portal hypertension was responsible for bleed in only 13%. Neoplasms accounted for 25% of cases. Other less common causes were erosive gastritis (3%, gastric polyp (3%, Mallory-Weiss tear (1%, and Dieulafoy’s lesion (1%. Among bleeding peptic ulcers, 27.8% of cases were classified as Forrest IIa and 20.4% in Forrest IIb & IIc each. Acid peptic disease was past history elicited in majority (33% followed by NSAID (26% and alcohol (26%. CONCLUSION The present study has diagnosed various causes of upper gastrointestinal bleeding in this part of country. The incidence of gastric carcinoma as a cause of upper gastrointestinal bleeding is significantly high compared to those in other studies. UGI endoscopy should be done in every case

  19. Employment of a noninvasive magnetic method for evaluation of gastrointestinal transit in rats

    OpenAIRE

    Quini, Caio C; Américo, Madileine F; Corá, Luciana A; Calabresi, Marcos FF; Alvarez, Matheus; Oliveira, Ricardo B; Miranda, Jose Ricardo A

    2012-01-01

    AC Biosusceptometry (ACB) was previously employed towards recording gastrointestinal motility. Our data show a reliable and successful evaluation of gastrointestinal transit of liquid and solid meals in rats, considering the methods scarcity and number of experiments needed to endorsement of drugs and medicinal plants. ACB permits real time and simultaneous experiments using the same animal, preserving the physiological conditions employing both meals with simplicity and accuracy. © 2012 Quin...

  20. Ethnomedicinal Evaluation of Medicinal Plants Used against Gastrointestinal Complaints

    Directory of Open Access Journals (Sweden)

    Akash Tariq

    2015-01-01

    Full Text Available Aim of the present study was to document ethnomedicinal plants used against gastrointestinal complaints in five selected remote regions of Pakistan and to select potential medicinal plants for further in vitro and in vivo investigation. Data on ethnomedicinal plants and ethnographic profile of respondents was documented using semistructured questionnaires. The present study revealed utilization of 52 medicinal plants for the treatment of different gastrointestinal infections in studied regions. Apiaceae was the most dominant family reported to be used for the treatment of these infections (4 plants. Among all the plant parts fruit (24%, whole plants and leaves (23% each were the most preferred plant parts used by the healers. Dosage of recipe was found to be related with the age of the patient. Highest degree of informant consensus was reported for vomiting, nausea (0.92 each, abdominal pain (0.9, and diarrhea (0.89. Withania coagulans scored highest FL value (86% followed by Mentha longifolia and Melia azadirachta ranked second with FL value (75% each. Young generation was found to possess little traditional knowledge about utilizing plant recipes against these infections. Plants with high Fic and FL values should be subjected for further phytochemical and pharmacological investigation for scientific validation.

  1. Physical activity evaluation in children with congenital heart disease.

    Science.gov (United States)

    Voss, Christine; Harris, Kevin C

    2017-09-01

    Significant advances in the management of children with congenital heart disease (CHD) have resulted in marked improvements in survival and life expectancy. Thus, there is an increased emphasis on promoting physical activity to optimise healthy development and long-term cardiovascular health. Evaluation of physical activity levels as part of ongoing clinical care is recommended to facilitate physical activity counselling and/or exercise prescription. Physical activity is a complex health behaviour that is challenging to evaluate. We provide an overview of techniques for measuring physical activity in children with CHD with a focus on how to do this in the clinical context. Accelerometers are devices that objectively assess intensity and duration of physical activity under free living conditions. They enable evaluation against physical activity guidelines, but are costly and require advanced technical expertise. Pedometers are a simple-to-use and cost-effective alternative, but an outcome metric of daily step count limits classification against guidelines. Commercial wearable activity trackers offer an appealing user experience and can provide valid estimates in children. Furthermore, activity trackers enable remote monitoring of physical activity levels, which may facilitate exercise prescription and activity counselling. Questionnaires are the most cost-effective and time-effective method, but recall error in younger children is a consideration. Routine exercise testing in children with CHD provides important insight into functional status but should not be viewed as a proxy measure of habitual physical activity. Understanding the spectrum and role of physical activity measurement tools is important for clinicians focused on optimising cardiovascular health in children with CHD. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  2. Evaluation of early and late complications in patients with congenital ...

    African Journals Online (AJOL)

    Background: Congenital lobar emphysema (CLE) is characterised by over distension of one lobe and pressure on the adjacent lobe and mediastinum. In this study, we review the pathological results of our paediatric patients with CLE, highlighting the early and late complications that occurred in these patients. Patients and ...

  3. Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: a congenital disorder of glycosylation mimicking glycogen storage disease.

    Science.gov (United States)

    Choi, Rihwa; Woo, Hye In; Choe, Byung-Ho; Park, Seungman; Yoon, Yeomin; Ki, Chang-Seok; Lee, Soo-Youn; Kim, Jong-Won; Song, Junghan; Kim, Dong Sub; Kwon, Soonhak; Park, Hyung-Doo

    2015-04-15

    Rare inherited metabolic diseases with neurological and gastrointestinal manifestations can be misdiagnosed as other diseases or remain as disorders with indeterminate etiologies. This study aims to provide evidence to recommend the utility of whole exome sequencing in clinical diagnosis of a rare inherited metabolic disease. A 4-month-old female baby visited an outpatient clinic due to poor weight gain, repeated seizure-like episodes, developmental delay, and unexplained hepatomegaly with abnormal liver function test results. Although liver biopsy revealed moderate fibrosis with a suggested diagnosis of glycogen storage disease (GSD), no mutations were identified either by single gene approach for GSD (G6PC and GAA) or by next generation sequencing panels for GSD (including 21 genes). Whole exome sequencing of the patient revealed compound heterozygous mutations of PMM2: c.580C>T (p.Arg194*) and c.713G>C (p.Arg238Pro) which mutations were associated with congenital disorder of glycosylation Ia (CDG-Ia: PMM2-CDG). We successfully applied exome sequencing to diagnose the first reported Korean patient with CDG-Ia, which was misdiagnosed as GSD. Whole exome sequencing may prove to be the preferred strategy for analysis of clinical features that do not readily suggest a specific diagnosis, such as those observed in inherited metabolic diseases, including CDG. Copyright © 2015 Elsevier B.V. All rights reserved.

  4. Nanoparticle-coated organic-inorganic microparticles: experimental design and gastrointestinal tolerance evaluation

    Directory of Open Access Journals (Sweden)

    Ruy Carlos R. Beck

    2006-10-01

    Full Text Available The influences of the spray-drying parameters and the type of nanoparticles (nanocapsules or nanospheres on the characteristics of nanoparticle-coated diclofenac-loaded microparticles were investigated by using a factorial design 3². Gastrointestinal tolerance following oral administration in rats was evaluated. Formulations were selected considering the best yields, the best encapsulation efficiencies and the lowest water contents, presenting surfaces completely coated by nanostructures and a decrease in the surface areas in relation to the uncoated core. In vitro drug release demonstrated the influence of the nanoparticle-coating on the dissolution profiles of diclofenac. Nanocapsule-coated microparticles presented a protective effect on the gastrointestinal mucosa.

  5. Nanoparticle-coated organic-inorganic microparticles: experimental design and gastrointestinal tolerance evaluation

    Directory of Open Access Journals (Sweden)

    Beck Ruy Carlos R.

    2006-01-01

    Full Text Available The influences of the spray-drying parameters and the type of nanoparticles (nanocapsules or nanospheres on the characteristics of nanoparticle-coated diclofenac-loaded microparticles were investigated by using a factorial design 3². Gastrointestinal tolerance following oral administration in rats was evaluated. Formulations were selected considering the best yields, the best encapsulation efficiencies and the lowest water contents, presenting surfaces completely coated by nanostructures and a decrease in the surface areas in relation to the uncoated core. In vitro drug release demonstrated the influence of the nanoparticle-coating on the dissolution profiles of diclofenac. Nanocapsule-coated microparticles presented a protective effect on the gastrointestinal mucosa.

  6. Congenital syphilis: refining newborn evaluation and management in Shenzhen, southern China.

    Science.gov (United States)

    Wu, Da-Dong; Hong, Fu-Chang; Feng, Tie-Jian; Liu, Xiao-Li; Lin, Li-Jun; Tian, Li-Shan; Qiu, Li-Xia

    2010-08-01

    Consistent definitions of congenital syphilis are critical for determining true incidences and setting up targets of elimination. This study aimed to assess the evaluation and management of infants at high risk of congenital syphilis with an antenatal syphilis-screening programme in the Shenzhen SEZ and to develop feasible definitions for the detection of congenital syphilis in China. A retrospective study was conducted of all standardised records of pregnant women with positive syphilis between 2003 and 2007. Infants at high risk of congenital syphilis were evaluated by laboratory tests at birth and longitudinal follow-up. A screening test-positive congenital syphilis case was defined based on a positive 19S-IgM-FTA-ABS result at birth. Assuming that 19S-IgM-FTA-ABS was the gold standard, the sensitivity and specificity of the ascertainment methods were calculated. During the study period, 1010 live infants were born to women with active syphilis during pregnancy. 19S-IgM-FTA-ABS detected 42 screening-positive congenital syphilis cases and another nine cases were identified by longitudinal follow-up only. Using 19S-IgM-FTA-ABS as the gold standard, 'fourfold rapid plasma reagin (RPR) titres' had the highest sensitivity and specificity compared with the other two follow-up methods. 19S-IgM-FTA-ABS makes congenital syphilis case classification simpler and faster for newborns. In areas where 19S-IgM-FTA-ABS is not available, comparing newborn RPR titres with maternal titres can be an alternative method. Meanwhile, positive follow-up results act as treatment indicators for older infants. As congenital syphilis definitions vary over the country, the Shenzhen programme suggested a practical model for surveillance and treatment in areas with or without available 19S-IgM-FTA-ABS testing.

  7. Evaluation and management of congenital peripheral arteriovenous malformations.

    Science.gov (United States)

    Nassiri, Naiem; Cirillo-Penn, Nolan C; Thomas, Jones

    2015-12-01

    The International Society for Study of Vascular Anomalies (ISSVA) broadly categorizes vascular anomalies into vascular tumors and vascular malformations. Vascular malformations are further divided based on their flow properties into slow-flow venous and lymphatic malformations, high-flow arteriovenous malformations (AVMs), and congenital mixed syndromes, which can include combinations thereof. Whether occurring in isolation or as part of a broader syndrome, congenital high-flow AVMs are arguably the most complicated, challenging, and gratifying of all vascular malformations to diagnose and manage. Various configurations exist depending on location and coexisting clinical features. Transcatheter embolization has evolved into the mainstay of treatment for most congenital peripheral AVMs with surgical excision playing a growingly limited role as an adjunctive modality. Successful treatment requires technical precision, creativity, patience, and persistence given the ever-evolving angioarchitecture and hemodynamic profile of these lesions. Despite these challenges, certain fundamental principles have been established as our understanding of the pathogenesis, natural history, hemodynamics, and treatment outcomes has expanded and evolved over the last few decades. These principles are crucial to adhere to in the overall management of these lesions and are highlighted and expanded upon herein. Copyright © 2015 Society for Vascular Surgery. Published by Elsevier Inc. All rights reserved.

  8. Evaluation of GLUT-1 in the granular cell tumour and congenital granular cell epulis.

    Science.gov (United States)

    Souto, Giovanna Ribeiro; Caldeira, Patrícia Carlos; Johann, Aline Cristina Batista Rodrigues; Andrade Marigo, Helenicede; Souza, Suzana Cantanhede Orsini Machadode; Mesquita, Ricardo Alves

    2013-07-01

    The glucose transporter type 1 (GLUT-1) protein is a useful marker for perineurial cells. Because of the possible neuroectodermal histogenesis of the granular cell tumour and congenital granular cell epulis, the aim of this study was to assess the immunoexpression of GLUT-1 protein in granular cell tumour and congenital granular cell epulis to aid in clarifying their histogenesis. The protocol of this study was approved by the Committee of Bioethics in Research at Universidade Federal Minas Gerais. Six cases of granular cell tumour and three cases of congenital granular cell epulis were submitted to immunohistochemistry for GLUT-1 and S-100 using the streptavidin-biotin standard protocol. Five cases of granular cell tumour were located on the tongue and one case on the upper lip. All cases of congenital granular cell epulis were observed in the alveolar ridge of newborns. All lesions evaluated proved to be immunonegative for GLUT-1. S-100 was found to be positive in all granular cell tumours and negative in congenital granular cell epulis. Neither granular cell tumour nor congenital granular cell epulis is directly related to perineurial cells. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  9. Patient follow up screening evaluations. Examples with regard to congenital hip dislocation and congenital heart disease

    NARCIS (Netherlands)

    R.E. Juttmann (Rikard); J. Hess (Jakob); P.J. van der Maas (Paul); G.J. van Oortmarssen (Gerrit)

    2001-01-01

    textabstractOBJECTIVE: To discuss the merits of the patient follow up study design for the evaluation of some specific mass screening programmes. DESIGN: Theoretical evaluation illustrated by two examples. SETTING: Department of Public Health Erasmus University

  10. New techniques for evaluating the gastrointestinal tract: capsular endoscopy

    Directory of Open Access Journals (Sweden)

    A E Karateyev

    2009-01-01

    Full Text Available The paper describes a procedure for capsular endoscopy (CE, a new high-technology method of evaluating the small bowel, and reports on its use in rheumatological care. Small bowel involvement is noted to be frequently encountered in rheumatic diseases, such as Behcet's disease, diffuse scleroderma, and seronegative spondylitis. According to the data of clinical trials, CE is effective in timely detecting this visceral abnormality. At the same time, CE is actually the only accurate method of diagnosing drug-induced enteropathy, a potentially menacing disease that frequently occurs with the use of nonsteroidal anti-inflammatory drugs.

  11. Point-of-care gastrointestinal and urinary tract sonography in daily evaluation of gastrointestinal dysfunction in critically ill patients (GUTS Protocol).

    Science.gov (United States)

    Perez-Calatayud, Angel Augusto; Carrillo-Esper, Raul; Anica-Malagon, Eduardo Daniel; Briones-Garduño, Jesus Carlos; Arch-Tirado, Emilio; Wise, Robert; Malbrain, Manu L N G

    2018-01-05

    There is currently a lack of universally accepted criteria for gastrointestinal (GI) failure or dysfunction in critical care. Also, the clinical assessment of intestinal function is notoriously difficult and thus often goes unrecognized, contributing to poor outcomes. A recent grading system has been proposed to define acute gastrointestinal injury (AGI) in conjunction with other organ function scores (e.g., SOFA). Ultrasonography has become widely accepted as a diagnostic tool for GI problems and pathology. We propose a sonographic examination of the abdomen, using the GUTS protocol (gastrointestinal and urinary tract sonography) in critically ill patients as part of the point-of-care ultrasound evaluation in patients with AGI. This article reviews possible applications of ultrasonography that may be relevant to monitor the GI function in critically ill patients. The GI ultrasound protocol (GUTS) focuses on four gastrointestinal endpoints: gastrointestinal diameter, mucosal thickness, peristalsis, and blood flow. Also, it is possible to examine the urinary tract and kidney function. Real-time ultrasound with the GUTS protocol is a simple, inexpensive, bedside imaging technique that can provide anatomical and functional information of the GI tract. Further studies are needed to investigate the utility of GUTS with other parameters, such as GI biomarkers, AGI class, and clinical outcomes.

  12. Evaluation of Self-Perceived Changes in Gastrointestinal Symptoms During Ramadan Fasting.

    Science.gov (United States)

    Keshteli, A H; Sadeghpour, S; Feizi, A; Boyce, P; Adibi, P

    2017-10-01

    Little is known regarding the effects of Ramadan fasting on common gastrointestinal symptoms. The aim of this study was to assess the alterations of these symptoms in a healthy Iranian adult population during Ramadan. In a cross-sectional study, self-administered questionnaires were used to evaluate the alterations in seven groups of gastrointestinal symptoms (esophageal symptoms, dyspeptic symptoms, bloating and abdominal distension, constipation, diarrhea, abdominal pain, and nausea) after Ramadan. A total of 900 individuals participated in the study. Almost 87 % of participants reported to fast for at least 2 weeks during Ramadan. After adjusting for potential confounders, we found no relationship between alteration in frequency of gastrointestinal symptoms and Ramadan fasting, except for constipation which increased significantly after Ramadan fasting (odds ratio 1.99, 95 % confidence interval 1.05-3.80, P Ramadan fasting. We found that Ramadan fasting does not increase frequency and severity of common gastrointestinal symptoms in the general population except for constipation that may be experienced more frequently and severely among those who fast for 2 weeks or more.

  13. Endoscopic Evaluation and Management of Gastrointestinal Bleeding in Patients with Ventricular Assist Devices

    Directory of Open Access Journals (Sweden)

    Marty M. Meyer

    2012-01-01

    Full Text Available The optimal diagnostic approach and yield for gastrointestinal bleeding (GIB in patients with ventricular assist devices (VAD are unknown. We explored the etiology of bleeding and yield of upper and lower endoscopy, balloon-assisted enteroscopy, and video capsule endoscopy in the evaluation of GIB in patients with VADs. Methods. All VAD patients with overt gastrointestinal bleeding and drop in hematocrit from April 1, 2000 to July 31, 2008 were retrospectively reviewed. The endoscopic evaluation of each episode was recorded. Overall yield of EGD, colonoscopy, balloon-assisted, and video capsule endoscopy were evaluated. Results. Thirty-six bleeding episodes occurred involving 20 patients. The site of GIB was identified in 32/36 episodes (88.9%, and the etiology of bleeding was determined in 30/36 cases (83.3%. Five VAD patients underwent VCE. The VCE exams demonstrated a high yield with 80% of exams identifying the etiology of GIB. Endoscopic intervention was successful in 8/9 attempts. No adverse events were recorded. Two patients required surgical intervention for GIB. Conclusion. Upper, lower, video capsule, and balloon-assisted enteroscopies are safe and demonstrate a high yield in the investigation of gastrointestinal bleeding in VAD patients. Medical centers caring for VAD patients should employ a standardized protocol to optimize endoscopic evaluation and intervention.

  14. Diagnostic performance of the upper gastrointestinal series in the evaluation of children with clinically suspected malrotation

    Energy Technology Data Exchange (ETDEWEB)

    Sizemore, Alecia W. [Indiana University School of Medicine, Department of Radiology, Indianapolis, IN (United States); University of Virginia School of Medicine, Department of Radiology, Charlottesville, VA (United States); Rabbani, Kaneez Z. [Indiana University School of Medicine, Department of Medicine, Indianapolis, IN (United States); Ladd, Alan [Indiana University School of Medicine, Division of Pediatric Surgery, Riley Hospital, Indianapolis, IN (United States); Applegate, Kimberly E. [Indiana University School of Medicine, Section of Pediatric Radiology, Department of Radiology, Indianapolis, IN (United States); Riley Hospital for Children, Department of Radiology, Indianapolis, IN (United States)

    2008-05-15

    Malrotation is a congenital disorder of abnormal intestinal rotation and fixation that predisposes infants to potentially life-threatening midgut volvulus. Upper gastrointestinal tract (UGI) examination is sometimes equivocal and can lead to inaccurate diagnosis. To determine the diagnostic performance of UGI examinations in children who subsequently underwent a Ladd procedure for suspected malrotation or volvulus. We reviewed all children up to 21 years old who had undergone both a UGI examination and a Ladd procedure for possible malrotation across 9 years. Children were excluded if they had not undergone either a UGI examination or a Ladd procedure and if congenital abdominal wall defects were present. Of 229 patients identified, 166 (59% male, median age 67 days) were included. Excluded were 47 without a UGI series, 12 with omphalocele or gastroschisis, 1 without verifiable operative data, 1 who had not undergone a Ladd procedure, and 2 older than 21 years. Of the 166 patients, 40% were neonates and 73% were <12 months old, and 31% presented with bilious vomiting and 15% with abdominal distention. Of 163 patients with surgically verified malrotation, 156 had a positive UGI examination, a sensitivity of 96%. There were two patients with a false-positive UGI examination and seven with false-negative examination. Jejunal position was normal in six of the seven with a false-negative examination and abnormal in the two with a false-positive examination. Of 38 patients with surgically verified volvulus, 30 showed volvulus on the UGI series. Five required bowel resection and three died. Jejunal position can lead to inaccurate UGI series interpretation. Meticulous technique and periodic assessment of performance will help more accurately diagnose difficult or equivocal cases. (orig.)

  15. Gastrointestinal emergencies.

    Science.gov (United States)

    Aronson, L R; Brockman, D J; Brown, D C

    2000-05-01

    The animal with a surgical gastrointestinal emergency usually requires a rapid, thorough physical examination with concurrent resuscitation. As the diagnosis is being made, the animal must be made as stable as possible before undergoing general anesthesia. During surgery, there must be a critical evaluation of gastrointestinal viability and the use of precise technical skills to achieve the best outcome. Adept postoperative management, including careful monitoring and an index of suspicion for potential complications, is vital.

  16. Economic evaluation of preventive programmes against congenital toxoplasmosis.

    Science.gov (United States)

    Stray-Pedersen, B; Jenum, P

    1992-01-01

    Benefit-cost analysis are applied to different strategies aimed at preventing congenital toxoplasmosis. The first strategy involves health education of pregnant women on how to avoid toxoplasma infection. The second strategy comprise serological surveillance in pregnancy combined with prenatal diagnosis and chemotherapy. The cost of health education is less than the cost of the serological screening, but health education will most likely lead to a haphazard testing of individuals and thereby increasing the cost. The best and most rational approach, and the programme which will prevent most cases and save most money for the society, is a combination of both programmes. Compared with the results of any of the two strategies alone, the benefits of the combined programme will increase significantly, while the cost (NOK 165 per participating woman) will only add fractions to that of the serological screening programme. The benefits of the strategies are influenced by many uncertain factors such as the discount rate, the incidence of infection, the intrauterine transmission rate, the outcome of pregnancy, the prognosis of the offspring, the sensitivity of the screening tests and the effectiveness of the programme. After applying a sensitivity analysis, both programmes were found to be of economic benefit to society at an incidence of maternal toxoplasmosis of 1-1.5 per 1000. Thus the pilot screening initiated in Norway to determine the incidence of infection, seems justified.

  17. Evaluation of perioperative nutritional status with subjective global assessment method in patients undergoing gastrointestinal cancer surgery.

    Science.gov (United States)

    Erdim, Aylin; Aktan, Ahmet Özdemir

    2017-01-01

    This study was designed to evaluate the perioperative nutritional status of patients undergoing surgery for gastrointestinal cancer using Subjective Global Assessment and surgeon behavior on nutritional support. We recruited 100 patients undergoing surgery for gastrointestinal cancer in one university and two state teaching hospitals. Subjective Global Assessment was administered to evaluate preoperative and postoperative nutritional status. Fifty-two patients in the state hospitals (Group 1) and 48 in the university hospital were assessed. Anthropometric and biochemical measurements were performed. Changes in preoperative Subjective Global Assessment scores and scores at the time of discharge and types of nutritional support were compared. Subjective Global Assessment-B was regarded as moderate and Subjective Global Assessment-C as heavy malnutrition. Ten patients had Subjective Global Assessment-B and 29 had Subjective Global Assessment-C malnutrition in Group 1 and nine had Subjective Global Assessment-B and 31 had Subjective Global Assessment-C malnutrition in Group 2 during preoperative assessment. Respective numbers in postoperative assessment were 12 for Subjective Global Assessment-B and 30 for Subjective Global Assessment-C in Group 1 and 14 for Subjective Global Assessment-B and 26 for Subjective Global Assessment-C in Group 2. There was no difference between two groups. Nutritional methods according to Subjective Global Assessment evaluation in pre- and postoperative periods were not different between the groups. This study demonstrated that the malnutrition rate is high among patients scheduled for gastrointestinal cancer surgery and the number of surgeons were inadequate to provide perioperative nutritional support. Both university and state hospitals had similar shortcomings. Subjective Global Assessment is an easy and reliable test and if utilized will be helpful to detect patients requiring nutritional support.

  18. Gastrointestinal malformations

    DEFF Research Database (Denmark)

    Garne, Ester; Loane, Maria; Dolk, Helen

    2007-01-01

    malformations, although not statistically significant for gastroschisis. There was little difference in median birthweight by GA for the pre- and postnatally diagnosed infants. The difference in GA at birth between prenatally and postnatally diagnosed infants with GIMs is enough to increase the risk......The aim of the study was to analyse the degree to which gestational age (GA) has been shortened due to prenatal diagnosis of gastrointestinal malformations (GIM). The data source for the study was 14 population-based registries of congenital malformations (EUROCAT). All liveborn infants with GIMs...... and without chromosomal anomalies, born 1997-2002, were included. The 14 registries identified 1047 liveborn infants with one or more GIMs (oesophageal atresia, duodenal atresia, omphalocele, gastroschisis and diaphragmatic hernia). Median GA at birth was lower in prenatally diagnosed cases for all five...

  19. Evaluation of gastrointestinal transit after infection with different loads of Strongyloides venezuelensis in rats.

    Science.gov (United States)

    Anjos-Ramos, L; Gama, L A; Mati, V L T; Corá, L A; Fujiwara, R T; Americo, M F

    2016-04-01

    The aim was to correlate the gastrointestinal transit profile in rats, evaluated by a biomagnetic technique, in response to infection with different loads of Strongyloides venezuelensis. Eggs per gram, intestinal number of worms and fecundity, and also gastric emptying time, cecum arrival time, small intestinal transit time and stool weight were determined. Assessments occurred at 0 (control), 3, 6, 9, 12, 15, 18 and 21 days post infection (dpi) with three infective loads (400, 2000, and 10,000 L). Gastric emptying was faster (p=0.0001) and the intestinal transit was significantly slower (p=0.001) during the infection time course. Also, linear mixed-effects models showed significantly changes in small intestinal transit after three parasite load over time. Cecum arrival was not influenced by infection time course or parasite load. As indirect effect, stool weight decreased accompanied a strong oviposition peak at 9 dpi in 400 L and 2000 L. In several motor function instances, neuromuscular dysfunction persists after mucosal inflammation has decreased. Our approach could be very helpful to evaluate gastrointestinal motor abnormalities in vivo after parasite infection. Despite parasitological data progressively decreased after 15 dpi, small intestinal transit worse over time and according to burden. Copyright © 2015 Elsevier B.V. All rights reserved.

  20. Evaluation of parenteral nutrition use in patients undergoing major upper gastro-intestinal surgery.

    Science.gov (United States)

    Deleenheer, Barbara; Declercq, Peter; Van Veer, Hans; Nafteux, Philippe; Spriet, Isabel

    2015-08-01

    After major upper gastro-intestinal surgery, enteral feeding is often hampered. There is still no consensus on which route of nutrition is preferable in patients undergoing this type of surgery. Current ESPEN guidelines recommend parenteral nutrition in undernourished patients, if caloric requirements cannot be met orally/enterally within 7 days and enteral nutrition is contraindicated. The current practice of systematic parenteral nutrition at the thoracic surgery ward of the University Hospitals Leuven was evaluated based on the ESPEN guidelines. This prospective observational study included patients undergoing upper gastro-intestinal surgery and receiving postoperative parenteral nutrition. Parenteral nutrition use was considered appropriate when patients were undernourished and unable to obtain adequate caloric requirements by oral or enteral feeding within 7 days. Twenty-five out of 35 patients were nutritionally at risk. In 9 of 25 patients, the indication for parenteral nutrition was considered justified. As the intestinal tract below the anastomosis site remains accessible in the total studied population, enteral nutrition might be an option. Unfortunately, an appropriate jejunostomy tube was not available at our institution. In accordance to the ESPEN guidelines, enteral nutrition can replace parenteral nutrition in most thoracic surgery patients, but only if an appropriate enteral access is available.

  1. ESPGHAN-NASPGHAN Guidelines for the Evaluation and Treatment of Gastrointestinal and Nutritional Complications in Children With Esophageal Atresia-Tracheoesophageal Fistula.

    Science.gov (United States)

    Krishnan, Usha; Mousa, Hayat; Dall'Oglio, Luigi; Homaira, Nusrat; Rosen, Rachel; Faure, Christophe; Gottrand, Frédéric

    2016-11-01

    Esophageal atresia (EA) is one of the most common congenital digestive anomalies. With improvements in surgical techniques and intensive care treatments, the focus of care of these patients has shifted from mortality to morbidity and quality-of-life issues. These children face gastrointestinal (GI) problems not only in early childhood but also through adolescence and adulthood. There is, however, currently a lack of a systematic approach to the care of these patients. The GI working group of International Network on Esophageal Atresia comprises members from ESPGHAN/NASPGHAN and was charged with the task of developing uniform evidence-based guidelines for the management of GI complications in children with EA. Thirty-six clinical questions addressing the diagnosis, treatment, and prognosis of the common GI complications in patients with EA were formulated. Questions on the diagnosis, and treatment of gastroesophageal reflux, management of "cyanotic spells," etiology, investigation and management of dysphagia, feeding difficulties, anastomotic strictures, congenital esophageal stenosis in EA patients were addressed. The importance of excluding eosinophilic esophagitis and associated GI anomalies in symptomatic patients with EA is discussed as is the quality of life of these patients and the importance of a systematic transition of care to adulthood. A systematic literature search was performed from inception to March 2014 using Embase, MEDLINE, the Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Clinical Trials, and PsychInfo databases. The approach of the Grading of Recommendations Assessment, Development and Evaluation was applied to evaluate outcomes. During 2 consensus meetings, all recommendations were discussed and finalized. The group members voted on each recommendation, using the nominal voting technique. Expert opinion was used where no randomized controlled trials were available to support the recommendation.

  2. Description and initial evaluation of an educational and psychosocial support model for adults with congenitally malformed hearts.

    Science.gov (United States)

    Rönning, Helén; Nielsen, Niels Erik; Swahn, Eva; Strömberg, Anna

    2011-05-01

    Various programmes for adults with congenitally malformed hearts have been developed, but detailed descriptions of content, rationale and goals are often missing. The aim of this study was to describe and make an initial evaluation of a follow-up model for adults with congenitally malformed hearts, focusing on education and psychosocial support by a multidisciplinary team (EPS). The model is described in steps and evaluated with regards to perceptions of knowledge, anxiety and satisfaction. The EPS model included a policlinic visit to the physician/nurse (medical consultation, computer-based and individual education face-to-face as well as psychosocial support) and a 1-month telephone follow-up. Fifty-five adults (mean age 34, 29 women) with the nine most common forms of congenitally malformed hearts participated in the EPS model as well as the 3-months follow-up. Knowledge about congenital heart malformation had increased in 40% of the participants at the 3-months follow-up. This study describes and evaluates a model that combines a multidisciplinary approach and computer-based education for follow-up of adults with congenitally malformed hearts. The EPS model was found to increase self-estimated knowledge, but further evaluations need to be conducted to prove patient-centred outcomes over time. The model is now ready to be implemented in adults with congenitally malformed hearts. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    Sevda Söker

    2011-03-01

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

  4. Evaluation of the Western blotting method for the diagnosis of congenital toxoplasmosis,

    Directory of Open Access Journals (Sweden)

    Jaqueline Dario Capobiango

    Full Text Available Abstract Objective: To evaluate the Western blotting method for the detection of IgG anti-Toxoplasma gondii (T. gondii (IgG-WB in the serum of children with suspected congenital toxoplasmosis. Methods: We accompanied 47 mothers with acquired toxoplasmosis in pregnancy and their children, between June of 2011 and June of 2014. The IgG-WB was done in house and the test was considered positive if the child had antibodies that recognized at least one band on IgG blots different from the mother's or with greater intensity than the corresponding maternal band, during the first three months of life. Results: 15 children (15.1% met the criteria for congenital toxoplasmosis and 32 (32.3% had the diagnosis excluded. The symptoms were observed in 12 (80.0% children and the most frequent were cerebral calcification in 9 (60.0%, chorioretinitis in 8 (53.3%, and hydrocephalus in 4 (26.6%. IgM antibodies anti-T. gondii detected by chemiluminescence (CL were found in 6 (40.0% children and the polymerase chain reaction (PCR for detection of T. gondii DNA was positive in 5 of 7 performed (71.4%. The sensitivity of IgG-WB was of 60.0% [95% confidence interval (CI 32.3-83.7%] and specificity 43.7% (95% CI 26.7-62.3%. The sensitivity of IgG-WB increased to 76.0 and 89.1% when associated to the research of IgM anti-T. gondii or PCR, respectively. Conclusions: The IgG-WB showed greater sensitivity than the detection of IgM anti-T. gondii; therefore, it can be used for the diagnosis of congenital toxoplasmosis in association with other congenital infection markers.

  5. Evaluation of congenital heart diseases and thyroid abnormalities in children with Down syndrome.

    Science.gov (United States)

    Mıhçı, Ercan; Akçurin, Gayaz; Eren, Erdal; Kardelen, Fırat; Akçurin, Sema; Keser, Ibrahim; Ertuğ, Halil

    2010-10-01

    Congenital heart disease (CHD) associated with thyroid disease has been reported in Down syndrome (DS). The purpose of this work was to assess abnormalities of the thyroid in relation to the frequency and type of CHD on admission among children with DS. This retrospective study included 187 children with DS between August 1993- December 2005. Karyotype analysis, thyroid function tests and echocardiographic studies were performed in all children with DS. If necessary, hemodynamic study by catheterization was carried out. Thyrotropin releasing hormone (TRH) stimulation test was performed in having elevated thyroid stimulating hormone (TSH) level. Statistical analyses were performed using Chi-square, "t" test for independent samples or Mann-Whitney U test. It was found that 136 (72.73%) patients with DS had CHD. The age difference at the time of admission was statistically significant for these two groups (p=0.001) in children with /without CHD. There were 12 (11.88%) patients with congenital hypothyroidism and DS, of whom 11 had CHD. There were statistically significant differences in the levels of TSH and total thyroxine (tT4) between congenital and subclinical hypothyroid and euthyroid groups (p=0.001 for TSH and p= 0.001 for tT4). But, there was no significant relationship between having any kind of CHD and levels of TSH and tT4. Our data suggest that all patients with DS should be evaluated with careful physical and echocardiographic examination on admission. In addition, congenital or subclinical hypothyroidism should also be kept in mind in children with DS and monitored accordingly.

  6. The safe zone for blinded sternal interventions based on CT evaluation of midline congenital sternal foramina

    Energy Technology Data Exchange (ETDEWEB)

    Boruah, Deb K.; Dhingani, Dhaval D.; Achar, Shashidhar; Augustine, Antony; Mahanta, Kangkana [Assam Medical College and Hospital, Department of Radio-diagnosis, Dibrugarh, Assam (India); Prakash, Arjun [NIMHANS, Department of Radio-diagnosis, Bangalore, Karnataka (India); Yadav, Rajnikant R. [Sanjay Gandhi Post Graduate Institute and Medical Sciences, Department of Radio-diagnosis, Lucknow (India)

    2016-12-15

    The aim of this study was to evaluate the safe zone for performing blind sternal procedures based on computed tomography (CT) evaluation of congenital midline sternal foramina using multidetector computed tomography (MDCT). This retrospective study was carried out on 1,180 patients who underwent MDCT of the thorax from March 2015 to February 2016. The MDCT images were evaluated in axial and reformatted planes. Morphometry and prevalence of midline congenital sternal foramina (SF) and manubrio-foraminal distance (MFD) were evaluated. The safe zone was defined for a blinded intervention, based on palpable anatomical landmarks. Data were presented in terms of percentage, mean ± standard deviation and calculations were carried out using Microsoft Excel. The prevalence of SF in our study sample was 11.6 %. The majority of SF were located in a typical position in the lower sternal body at the level of fifth costo-chondral junction (CCJ) in 108 patients (78.8 %). The structure directly beneath the SF was mediastinal fat in 73 patients (53.3 %), followed by anterior pericardium in 44 patients (32.1 %) and lung parenchyma in 20 patients (14.6 %). The mean MFD in our study population was 11.90 ± 1.31 cm. Sternal interventions should be avoided at the level of fourth to sixth CCJ, which is considered the danger zone. An intervention at the fourth to sixth CCJ may lead to disastrous consequences in patients who have SF. (orig.)

  7. Evaluation of gastrointestinal helminths in canine population of Bhubaneswar, Odisha, India: a public health appraisal

    Directory of Open Access Journals (Sweden)

    P. N. Panigrahi

    2014-05-01

    Full Text Available Aim: To evaluate the presence of gastrointestinal helminthic parasites in clinically apparent canines of Bhubaneswar, Odisha and to determine the risk of zoonotic infection to dog owners through questionnaire survey. Materials and Methods: A total of 154 dogs, with clinical signs of gastroenteritis were examined for the presence of helminthic ova and /or larvae in their faecal sample by direct smear and/ or floatation and centrifugation method. Prevalence was determined by sex wise, age wise, and breed wise. A structured questionnaire on 50 dog owners was designed to gather information on dog ownership, management and related risks on public health. Results: In the present investigation, the overall prevalence of gastrointestinal helminths infection was 41.46%. The infection rate was highest for mixed parasitic infection (26.57% followed by Ancylostoma caninum (23.44%, Toxocara canis (20.31% and lowest for Taenia spp. (3.13%. In relation to different groups, the prevalence was higher in male than female, highest in younger animals and it was shown a decreasing trend as age increased. It was also higher in non-descriptive breeds than pure and exotic breeds. Very few dog owners (10% were conscious about that canine parasite could be transmitted to humans but none of them could provide correct information on the mode of transmission. Only 12 % dog owners had maintained standard deworming schedule. Conclusion: The findings showed that the high levels of ignorance among dog owners about canine helminthic parasites and transmission coupled with significant infection rates among the dogs in the community warrants immediate action needs to be taken to decrease infection rate in dogs and to raise awareness among the community about zoonotic diseases.

  8. Variability in use of voiding cystourethrogram during initial evaluation of infants with congenital hydronephrosis.

    Science.gov (United States)

    Vemulakonda, Vijaya M; Chiang, George; Corbett, Sean T

    2014-05-01

    To identify geographic variability in the imaging of infants with congenital hydronephrosis at initial pediatric urologic evaluation. We performed a retrospective review of infants aged ≤ 12 months with congenital hydronephrosis seen as new patients from October 2010 to September 2011 at 3 regionally diverse pediatric urology practices: University of Virginia Hospital, Rady Children's Hospital, and Children's Hospital Colorado. Primary outcomes measured were the type and number of tests ordered at initial evaluation. Independent variables collected included the following: patient age, location, and initial ultrasound findings. Ultrasound findings were manually extracted from the attending pediatric urologist's clinic note. All other data were automatically extracted from the electronic medical record. Proportions were analyzed using Pearson's goodness of fit and Fisher exact tests. Medians were compared using the Kruskal-Wallis test. Two hundred forty-one patients met the study criteria. Median patient age was 2 months and did not differ across sites. Most patients (64.7%) had Society for Fetal Urology grade 0-2 hydronephrosis; prevalence of high-grade hydronephrosis varied across sites (P = .002). Use of voiding cystourethrography also varied across sites (17.6%-88.9%); this difference persisted when controlling for age and hydronephrosis grade (P practices. This variation persists when controlling for differences in age and ultrasound findings, suggesting that regional differences in patient demographics, provider/parental preferences, or referral patterns might contribute to practice variations in the evaluation of these patients. Copyright © 2014 Elsevier Inc. All rights reserved.

  9. Evaluation of Complications of Heart Surgery in Children With Congenital Heart Disease at Dena Hospital of Shiraz.

    Science.gov (United States)

    Mirzaei, Maryam; Mirzaei, Samaneh; Sepahvand, Elham; Rahmanian Koshkaki, Afifeh; Kargar Jahromi, Marzieh

    2015-08-23

    Today, with progress in the field of congenital heart surgery, different complicated actions are done in children. These actions may be associated with several complications, especially open heart surgery in which the cardiopulmonary bypass (CPB) is used. Serious complications can be caused high morbidity and mortality rates. Present study has been performed to determine the incidence of morbidity and mortality in cardiac surgery in children. In a cross-sectional retrospective, records of 203 patients undergoing surgery for congenital heart disease in Dena hospital during 2013-2015 were reviewed for incidence of complications. Data was analyzed by using descriptive and analytical statistics and using SPSS version 18. The mean age of samples was 3/65±4/47 years. The majority of samples (73/8%) were undergoing open surgery. The overall adverse cardiovascular complications were respectively, renal complications (44/3%), lung (40/3%), anemia (35/9%), heart (34/4%), gastrointestinal (17/2%), brain (14/2%), need for re-intubation of the trachea 11/3%), infection (7/8%) required reoperation (5/9%) and vascular complications (1/4%). High incidence of complications after congenital heart surgery makes necessary attention to complications and their treatment after surgery. It is necessary to apply the measures and careful monitoring of patients to minimize these effects.

  10. IDIOPATHIC CONGENITAL TALIPES EQUINOVARUS: AN EVALUATION IN CHILDREN TREATED BY THE PONSETI METHOD

    Directory of Open Access Journals (Sweden)

    Gautam Choudhury

    2016-10-01

    Full Text Available BACKGROUND Long-term success reports by Dr. Ponseti with the Ponseti method in the treatment of congenital idiopathic clubfoot have led to a renewed interest in this method among paediatric orthopaedists. The purpose of this study is to evaluate mid-term effectiveness of Ponseti method for the treatment of congenital idiopathic clubfoot. MATERIALS AND METHODS Of 93 babies (26 girls, 67 boys with idiopathic clubfoot who began treatment at Assam Medical College and Hospital between April 2014 and June 2016. 85 patients (22 girls and 63 boys with 127 clubfeet (71 right feet, 56 left feet were included in the study. 42 cases were bilateral and 43 were unilateral. Minimum age 6 days and maximum age 3 years (SD 0.64 years. Presentation was categorised as either early or late. 26 (30.59% of 85 babies who presented for treatment were 28 days or younger versus 59 (69.41% of 85 babies who presented for treatment were late presenters. RESULTS Mean no. of cast required was 5.1. 26 feet (20% did not require Achilles tenotomy. Higher initial severity scores at presentation were associated with the need for tenotomy. 31 (36% had poor brace use and 54 (63% had good brace use. Of 26 babies who presented early for treatment (28 days or younger, 11 (42.3% had poor brace use and 15 (57.7% had good brace use. However, in 59 babies who presented late, a larger percentage had good brace use (39 babies than poor brace use (20 babies. No additional surgery was required for 60% of the brace intolerant patients. Final dorsiflexion was adequate for 117 (92% of 127 feet. The final ankle motion (i.e., plantar flexion, dorsiflexion was no different between early and late presenters. CONCLUSION Ponseti method is a safe and satisfactory treatment for congenital idiopathic clubfoot with mid-term effectiveness.

  11. Gastrointestinal tract perforation: evaluation of MDCT according to perforation site and elapsed time

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Hyun Cheol; Yang, Dal Mo; Kim, Sang Won [Kyung Hee University Hospital at Gangdong, College of Medicine, Kyung Hee University, Department of Radiology, Seoul (Korea, Republic of); Park, Seong Jin [Kyung Hee University Hospital, College of Medicine, Kyung Hee University, Department of Radiology, Seoul (Korea, Republic of)

    2014-06-15

    To evaluate mutidetector computed tomography (MDCT) for the prediction of perforation site according to each gastrointestinal (GI) tract site and elapsed time. One hundred and sixty-eight patients who underwent MDCT before laparotomy for GI tract perforation were enrolled and allocated to an early or late lapse group based on an elapsed time of 7 h. Two reviewers independently evaluated the perforation site and assessed the following CT findings: free air location, mottled extraluminal air bubbles, focal bowel wall discontinuity, segmental bowel wall thickening, perivisceral fat stranding and localised fluid collection. The overall diagnostic accuracy was 91.07 % and 91.67 % for reviewers 1 and 2, respectively, with excellent agreement (kappa 0.86). Accuracies (98.97 % and 97.94 %) and agreements (kappa 0.894) for stomach and duodenum perforation were higher than for other perforation sites. Strong predictors of perforation at each site were: focal bowel wall discontinuity for stomach, duodenal bulb and left colon, mottled extraluminal air bubbles for retroperitoneal duodenum and right colon, and segmental bowel wall thickening for small bowel. The diagnostic accuracy was not different between the early- and late-lapse groups. MDCT can accurately predict upper GI tract perforation with high reliability. Elapsed time did not affect the accuracy of perforation site prediction. (orig.)

  12. [Pathologic markers for evaluation of reversibility in pulmonary hypertension related to congenital heart disease].

    Science.gov (United States)

    Li, Li; Huang, Li; Chen, Guo; Huang, Shian; Liu, Chao; Wang, Hongyue; Duan, Xuejin; Wang, Qingzhi; Zhao, Ranxu; He, Jianguo

    2016-01-01

    To assess the pathologic markers for evaluation of reversibility in pulmonary hypertension (PAH) related to congenital heart disease. Twenty-eight patients with congenital heart disease complicated by PAH were subclassified into reversible pulmonary hypertension (RPAH) and irreversible pulmonary hypertension (IPAH), according to post-operative mean pulmonary artery pressure (MPAP). Pulmonary vascular lesion was analyzed according to Ruan's method. Mean medium thickness percent, mean medium area percent and pulmonary arteriolar density were measured by quantitative morphometry. Immunohistochemical study for transgelin and filamin A was carried out. Amongst the 28 cases studied, 24 were RPAH and 4 were IPAH. Of the 24 patients with RPAH, 13 (54.2%, 13/24) had pulmonary vascular lesion of grade 0, 9 (37.5%, 9/24) of grade 1 and 2 (8.3%, 2/24) of grade 2. Of the 4 patients with IPAH, 1 had lesion of grade 1, 1 of grade 2 and 2 of grade 3. Both preoperative and postoperative MPAP were higher in IPAH patients than that in RPAH patients[(53.3±23.4) mmHg versus (34.1±12.7) mmHg, P=0.020 and (35.0±8.8) mmHg versus (17.8±3.9) mmHg, Pheart disease. Mean medium thickness percent, mean medium area percent and immunoreactivity for transgelin and filamin A are useful parameters.

  13. [Evaluation of the efficacy of antihelmintics compounds on parasitics gastrointestinal nematodes (Strongyloidea) of goats].

    Science.gov (United States)

    Silva, André Ricardo E; De Araújo, Jackson Victor; Braga, Fabio R; De Oliveira, Aécio Carlos; Carvalho, Rogério O; Araújo, Juliana M; Castejon, Fernanda V

    2008-09-01

    The present study was performed in order to evaluate the action of anthelmintics compounds on gastrointestinal parasite nematodes of 27 Alpine and Saanen adult goats. The animals were divided into three groups. The animals of groups 1 and 2 had been dealt with two different associations of antihelminthics in day zero. The goats in group 1 were treated with closantel (75 mg/mL), albendazol (38 mg/mL) and ivermectin B1a (2 mg/mL) orally (1 ml/ 10 Kg body weight); animals in group 2 were treated with closantel (100 mg/mL), albendazol (50 mg/mL), levamisol (64 mg/mL), ivermectin B1a (2 mg/mL), selenium (1 mg/mL) and cobalt (4.4 mg/mL) orally (1 ml/10 Kg of body weight) and the animals in the group 3 (control) received distilled water. Eggs per gram counts on faeces (EPG) and coprocultures of all animals were made at intervals of days 0, 3, 5, 7, 14, 21 and 28. The haematocrit, global counting and differential white blood cells, total protein and the Famacha test were determined at intervals of days 0, 14 and 28. Six animals of each group had suffered euthanasia and slaughters on the 28th day. The results showed that only the combination used in the animals of group 2 was effective.

  14. Evaluation of endoscopic characteristics of upper gastrointestinal polyps in patients with familial adenomatous polyposis.

    Science.gov (United States)

    Fatemi, Seyed Reza; Safaee, Azadeh; Pasha, Sara; Pourhoseingholi, Mohamad Amin; Bahrainei, Rasool; Molaei, Mahsa

    2014-01-01

    Familial adenomatous polyposis (FAP) is a disease inherited in an autosomal dominant fashion. Most FAP patients develop upper gastrointestinal polyps; especially those in the antrum and duodenum are usually neoplastic. The aim of this study was to evaluate the prevalence of gastroduodenal polyps in Iranian FAP patients. 28 patients affected by FAP underwent front-view and side-view endoscopy. Papillary biopsies were performed in all patients. Location of polyps, their number and size, pathology study, patient general information (gender, age, family history of FAP or colorectal cancer and gastroduodenal polyps) were analyzed. Gastric polyps were seen in 39.3 % of patients. Some 72.7% of the affected individuals had fundic gland polyps and 36.36% had hyperplastic polyps. Duodenal adenoma was observed in 25% of patients. While 57% of patients had tubular adenoma with low grade dysplasia, 42.8% showed tubulovillous adenoma with low grade dysplasia. Findings of this study indicated that the prevalence of gastroduodenal polyps in FAP patients is high and dysplasia may be evident in duodenal polyps. Therefore, it appears that routine gastroduodenal endoscopy in FAP patients is necessary.

  15. Evaluation of Gastrointestinal Leakage in Multiple Enteric Inflammation Models in Chickens

    Science.gov (United States)

    Kuttappan, Vivek A.; Vicuña, Eduardo A.; Latorre, Juan D.; Wolfenden, Amanda D.; Téllez, Guillermo I.; Hargis, Billy M.; Bielke, Lisa R.

    2015-01-01

    Enteric inflammation models can help researchers’ study methods to improve health and performance and evaluate various growth promoters and dietary formulations targeted to improve performance in poultry. Oral administration of fluorescein isothiocyanate-dextran (FITC-d; 3–5 kDa) and its pericellular mucosal epithelial leakage are an established marker to evaluate enteric inflammation in multiple species. The present study evaluated different methods to induce gut inflammation in poultry based on FITC-d leakage. Four independent experiments were completed with different inflammation treatment groups, and serum FITC-d and/or retention of FITC-d in GI tract were determined. In experiment 1 (n = 10 birds/treatment, broilers, processed at 14 days), groups included control (CON), dextran sodium sulfate (DSS; drinking water at 0.75%) and feed restriction (FRS; 24 h before processing). Experiment 2 (n = 14 birds/treatment, leghorns, processed at 7 days) included CON, DSS, FRS, and rye-based diet (RBD). In experiments 3 and 4 (n = 15 birds/treatment, broilers, processed at 7 days), groups were CON, DSS, high fat diet (HFD), FRS, and RBD. In all experiments, FRS and RBD treatments showed significantly higher serum FITC-d levels compared to the respective CON. This indicates that FRS and RBD results in disruption of the intact barrier of the gastrointestinal tract (GIT), resulting in increased gut permeability. DSS and HFD groups showed elevation of serum FITC-d levels although the magnitude of difference from respective CON was inconsistent between experiments. FRS was the only treatment which consistently showed elevated retention of FITC-d in GIT in all experiments. The results from present studies showed that FRS and RBD, based on serum FITC-d levels, can be robust models to induce gut leakage in birds in different age and species/strains. PMID:26697435

  16. Congenital toxoplasmosis: evaluation of serological methods for the detection of anti-Toxoplasma gondii IgM and IgA antibodies

    OpenAIRE

    IMX Rodrigues; AM Castro; MBF Gomes; WN Amaral; MM Avelino

    2009-01-01

    A study was carried out to evaluate the presence of serological markers for the immunodiagnosis of the vertical transmission of toxoplasmosis. We tested the sensitivity, specificity and predictive values (positive and negative) of different serological methods for the early diagnosis of congenital toxoplasmosis. In a prospective longitudinal study, 50 infants with suspected congenital toxoplasmosis were followed up in the ambulatory care centre of Congenital Infections at University Hospital ...

  17. Evaluation of New Commercial Real-Time PCR Quantification Assay for Prenatal Diagnosis of Cytomegalovirus Congenital Infection▿

    Science.gov (United States)

    Ducroux, Aurélie; Cherid, Samira; Benachi, Alexandra; Ville, Yves; Leruez-Ville, Marianne

    2008-01-01

    A new commercial real-time human cytomegalovirus (HCMV) PCR kit was evaluated after automated DNA extraction of 153 amniotic fluids in parallel with an in-house real-time PCR assay. The commercial kit displayed 100% sensitivity/specificity compared to the “in-house” assay and was suitable for prenatal diagnosis of HCMV congenital infection. PMID:18417654

  18. EUROmediCAT signal detection: an evaluation of selected congenital anomaly-medication associations.

    Science.gov (United States)

    Given, Joanne E; Loane, Maria; Luteijn, Johannes M; Morris, Joan K; de Jong van den Berg, Lolkje T W; Garne, Ester; Addor, Marie-Claude; Barisic, Ingeborg; de Walle, Hermien; Gatt, Miriam; Klungsoyr, Kari; Khoshnood, Babak; Latos-Bielenska, Anna; Nelen, Vera; Neville, Amanda J; O'Mahony, Mary; Pierini, Anna; Tucker, David; Wiesel, Awi; Dolk, Helen

    2016-10-01

    To evaluate congenital anomaly (CA)-medication exposure associations produced by the new EUROmediCAT signal detection system and determine which require further investigation. Data from 15 EUROCAT registries (1995-2011) with medication exposures at the chemical substance (5th level of Anatomic Therapeutic Chemical classification) and chemical subgroup (4th level) were analysed using a 50% false detection rate. After excluding antiepileptics, antidiabetics, antiasthmatics and SSRIs/psycholeptics already under investigation, 27 associations were evaluated. If evidence for a signal persisted after data validation, a literature review was conducted for prior evidence of human teratogenicity. Thirteen out of 27 CA-medication exposure signals, based on 389 exposed cases, passed data validation. There was some prior evidence in the literature to support six signals (gastroschisis and levonorgestrel/ethinylestradiol (OR 4.10, 95% CI 1.70-8.53; congenital heart disease/pulmonary valve stenosis and nucleoside/tide reverse transcriptase inhibitors (OR 5.01, 95% CI 1.99-14.20/OR 28.20, 95% CI 4.63-122.24); complete absence of a limb and pregnen (4) derivatives (OR 6.60, 95% CI 1.70-22.93); hypospadias and pregnadien derivatives (OR 1.40, 95% CI 1.10-1.76); hypospadias and synthetic ovulation stimulants (OR 1.89, 95% CI 1.28-2.70). Antipropulsives produced a signal for syndactyly while the literature revealed a signal for hypospadias. There was no prior evidence to support the remaining six signals involving the ordinary salt combinations, propulsives, bulk-forming laxatives, hydrazinophthalazine derivatives, gonadotropin releasing hormone analogues and selective serotonin agonists. Signals which strengthened prior evidence should be prioritized for further investigation, and independent evidence sought to confirm the remaining signals. Some chance associations are expected and confounding by indication is possible. © 2016 The Authors. British Journal of Clinical Pharmacology

  19. EUROmediCAT signal detection: an evaluation of selected congenital anomaly‐medication associations

    Science.gov (United States)

    Given, Joanne E.; Loane, Maria; Luteijn, Johannes M.; Morris, Joan K.; de Jong van den Berg, Lolkje T.W.; Garne, Ester; Addor, Marie‐Claude; Barisic, Ingeborg; de Walle, Hermien; Gatt, Miriam; Klungsoyr, Kari; Khoshnood, Babak; Latos‐Bielenska, Anna; Nelen, Vera; Neville, Amanda J.; O'Mahony, Mary; Pierini, Anna; Tucker, David; Wiesel, Awi

    2016-01-01

    Aims To evaluate congenital anomaly (CA)‐medication exposure associations produced by the new EUROmediCAT signal detection system and determine which require further investigation. Methods Data from 15 EUROCAT registries (1995–2011) with medication exposures at the chemical substance (5th level of Anatomic Therapeutic Chemical classification) and chemical subgroup (4th level) were analysed using a 50% false detection rate. After excluding antiepileptics, antidiabetics, antiasthmatics and SSRIs/psycholeptics already under investigation, 27 associations were evaluated. If evidence for a signal persisted after data validation, a literature review was conducted for prior evidence of human teratogenicity. Results Thirteen out of 27 CA‐medication exposure signals, based on 389 exposed cases, passed data validation. There was some prior evidence in the literature to support six signals (gastroschisis and levonorgestrel/ethinylestradiol (OR 4.10, 95% CI 1.70–8.53; congenital heart disease/pulmonary valve stenosis and nucleoside/tide reverse transcriptase inhibitors (OR 5.01, 95% CI 1.99–14.20/OR 28.20, 95% CI 4.63–122.24); complete absence of a limb and pregnen (4) derivatives (OR 6.60, 95% CI 1.70–22.93); hypospadias and pregnadien derivatives (OR 1.40, 95% CI 1.10–1.76); hypospadias and synthetic ovulation stimulants (OR 1.89, 95% CI 1.28–2.70). Antipropulsives produced a signal for syndactyly while the literature revealed a signal for hypospadias. There was no prior evidence to support the remaining six signals involving the ordinary salt combinations, propulsives, bulk‐forming laxatives, hydrazinophthalazine derivatives, gonadotropin releasing hormone analogues and selective serotonin agonists. Conclusion Signals which strengthened prior evidence should be prioritized for further investigation, and independent evidence sought to confirm the remaining signals. Some chance associations are expected and confounding by indication is possible. PMID

  20. Diagnosis of congenital toxoplasmosis: prenatal and neonatal evaluation of methods used in Toulouse University Hospital and incidence of congenital toxoplasmosis

    Directory of Open Access Journals (Sweden)

    MH Bessières

    2009-03-01

    Full Text Available The aim of this study was to determine the incidence of congenital toxoplasmosis (CT and to assess the performances of prenatal and neonatal diagnoses. From 1994-2005, in Toulouse University Hospital, France, amniocentesis was performed on 352 pregnant women who were infected during pregnancy. All women were treated with spiramycin and pyrimethamine-sulfadoxine when prenatal diagnosis was positive. Among the 275 foetuses with follow-up, 66 (24% were infected. The transmission rates of Toxoplasma gondii were 7%, 24% and 59% in the first, second and third trimesters, respectively. The sensitivity and specificity of PCR on amniotic fluid (AF were 91% and 99.5%, respectively. One case was diagnosed by mouse inoculation with AF and six cases were diagnosed by neonatal or postnatal screening. The sensitivity and specificity of PCR on placentas were 52% and 99%, respectively. The sensitivity of tests for the detection of specific IgA and IgM in cord blood was 53% and 64%, respectively, and specificity values were 91% and 92%. In conclusion, PCR performed on AF had the highest levels of sensitivity and specificity for the diagnosis of CT. This permits an early diagnosis of most cases and should be recommended.

  1. Radiochromium (chromium-51) evaluation of gastrointestinal blood loss associated with placebo, aspirin, and nabumetone

    Energy Technology Data Exchange (ETDEWEB)

    Lussier, A.; LeBel, E.

    1987-10-30

    Gastrointestinal blood loss is one of the most serious clinical events induced by drugs. To date, almost no nonsteroidal anti-inflammatory drug has been shown to be devoid of that side effect in a strictly controlled study. The objective of this study was to assess quantitatively, by use of radioactive chromium (chromium-51)-labeled red blood cells, gastrointestinal blood loss associated with nabumetone (1000 mg daily), aspirin (3.6 g daily), and placebo. A total of 37 normal subjects, divided among the three treatment groups and a fourth group that received no treatment, were assessed clinically and quantitatively for gastrointestinal blood loss over a period of 28 days of active treatment. The results with chromium-51, analyzed on a logarithmic scale, revealed no statistically significant differences between the nabumetone, placebo, and control groups. Gastrointestinal blood loss in the aspirin group, however, was elevated when compared with all other groups at a high level of statistical significance (p less than 0.001). It is concluded that, under conditions in which aspirin causes substantial gastrointestinal microbleeding, nabumetone is not significantly different from placebo.

  2. Use of FAMACHA system to evaluate gastrointestinal nematode resistance/resilience in offspring of stud rams.

    Science.gov (United States)

    Burke, J M; Miller, J E

    2008-05-06

    High levels of anthelmintic resistance in gastrointestinal nematodes (GIN) of small ruminants have created the need for animals with greater resistance to these parasites. The objective of this experiment was to evaluate the effectiveness of the FAMACHA system in identification of parasite resilient/resistant offspring, and thus identification of stud rams with greater resilience/resistance. Katahdin ewes bred in separate groups to two sires to lamb in spring (2004, 2005: Ram A and Ram B; 2006, 2007: Ram C and Ram D) at the USDA, Agricultural Research Station in Booneville, Arkansas produced 20-40 offspring/sire each year. Ewes and lambs grazed mixed grass (predominantly bermudagrass and ryegrass) pastures and were supplemented with corn/soybean meal between 30 days pre- and 60 days post-lambing (ewes) and starting 45 days of age until weaning (lambs; 95.0+/-0.6 days of age). Blood samples and feces were collected from the lambs to determine blood packed cell volume (PCV) and fecal egg counts (FEC) and FAMACHA scores were determined at 90, 120, and 150 days of age. Lambs were dewormed if anemic (PCVFAMACHA score >2) and data removed within 30 days after deworming. Data were analyzed for the 2004/2005 and 2006/2007 groups using general linear models with year, sex of lamb, and sire nested within year as variables. Sire differences were detected (PFAMACHA at all time points, but not FEC. There tended (PFAMACHA system can be used to identify superior sires for parasite resilience/resistance, thus increasing flock resilience, and perhaps resistance.

  3. Evaluation of the patients that followed up for upper gastrointestinal system bleeding

    Directory of Open Access Journals (Sweden)

    Hüseyin Gölgeli

    2014-09-01

    Full Text Available Objective: In this study, it was aimed to evaluate demographic and laboratory characteristics of the patients with upper gastrointestinal system (GIS bleeding define the factors leading to bleeding. Methods: The study included 285 patients aged between 18 and 89 years who were followed and treated for upper GIS bleeding in our Internal Medicine Clinics. Patients’ demographic and aboratory data, endoscopic findings, treatment methods, ospitalization length and need for blood transfusions were determined. Results: The mean age was 62.7±18.3 years with the male/female ratio of 2.2/1. The most common finding was melena (45.3%, and the second melena with hematemesis (33%. 76.84% of the patients had the history of drug use, mostly non-steroid anti-inflammatory drugs (NSAIDs (45.26% and aspirin (23.86%. The mean hospitalization length was 8.3±4.9 days. Blood transfusion was required in 74.04% with the mean 3,14±1,41 units. Bleeding recurrence was seen in 10.25%. Duodenal ulcer was observed as the most common cause of GIS bleeding (29.82% and gastric ulcer was the second (21.75%. The treatment methods were medical in 73.34%, endoscopic sclerotherapy in 22.46%, hemoclips in 1.40% and band ligation in 0.70% of the patients. Upper GIS bleedings were mostly occurred in August (11.9% and least occurred in December (3.5%. Conclusion: The majority of the patients have history of drug use, like NSAIDs and aspirin leading to bleeding. We suggest that the usage of these drugs should be controlled and used only with accurate indications especially in elderly patients.

  4. Scintigraphic evaluation of primary congenital hypothyroidism: results of the Greek screening program

    Energy Technology Data Exchange (ETDEWEB)

    Panoutsopoulos, G.; Ilias, I.; Batsakis, C.; Christakopoulou, I. [Dept. of Nuclear Medicine, ' ' Sotiria' ' Hospital, Athens (Greece); Mengreli, C. [Inst. of Child Health, Athens (Greece)

    2001-04-01

    The Greek screening program for primary congenital hypothyroidism was initiated in 1979. By early 2000, thyrotropin measurements had been performed in 1,976,719 newborns, using dried blood spots obtained by heel prick. Among these children, 584 were diagnosed with congenital hypothyroidism (incidence: 1/3,384 births) and were given L-thyroxine (L-T{sub 4}) replacement therapy. In order to further evaluate and classify the children as having either an aplastic (AT) or an ectopic thyroid gland (ET) or as showing thyroidal dyshormonogenesis (DN, with a nomotopic gland), scintigraphic studies were performed at the age of 2-3 years. In 413 children of this age group (including 24 subsequently diagnosed as having had transient hypothyroidism, in whom L-T{sub 4} therapy was not resumed), thyroid hormones were measured and scintigraphic studies were done after withdrawal of L-T{sub 4} replacement treatment for 3 weeks. Given the long duration of the study, we used various scintigraphic modalities. In 96 children (group A), scintigraphy was performed using technetium-99m pertechnetate ({sup 99m}TcO{sub 4}{sup -}; 18.5 MBq given i.v.) and a rectilinear scanner. Seventy-three children (group B) were studied with {sup 99m}TcO{sub 4}{sup -} (18.5 MBq given i.v.) and a gamma camera equipped with a pinhole collimator. In these groups, atropine was administered 30 min prior to the study (0.02 mg/kg i.v. or i.m.) in order to reduce the secretion of saliva from the salivary glands. Finally, in the remaining 220 children (group C) iodine-123 sodium iodide ({sup 123}I-Na) (0.74-1.85 MBq i.v.) and the same gamma camera were used. Between-group comparisons of scintigraphic findings were done with the chi square test. In 191 children from group C, thyroglobulin (Tg) was measured and in 49 children ultrasound (US) was performed (categorising the gland as AT or ET/DN). Comparison of these modalities was done with the kappa statistic. In group A, 61.5% of children had AT, 26.0% had ET and

  5. Radiologic evaluation of coronary artery disease in adults with congenital heart disease.

    Science.gov (United States)

    Valenzuela, David M; Ordovas, Karen G

    2016-01-01

    Improved surgical and medical therapy have prolonged survival in patients with congenital heart disease (CHD) such that general medical conditions like coronary artery disease (CAD) are now the main determinants of mortality. A summary of the association of CAD with CHD, as well as a discussion of the radiologic evaluation of the coronary arteries in adults with CHD is described herein. Cross sectional imaging to evaluate CAD in adults with CHD should follow the same appropriateness criteria as gender and aged matched patients without CHD. Coronary CT imaging may be particularly valuable in evaluating the coronary arteries in this patient population as invasive coronary angiography may prove challenging secondary to complicated or unconventional anatomy of the coronary arteries. Further, typical methods for evaluating CAD such as stress or echocardiography may be impractical in adults with CHD. Finally, delineating the anatomic relationship of the coronary arteries and their relationship with the sternum, chest wall, conduits, grafts, and valves is highly recommended in patients with CHD prior to reintervention to avoid iatrogenic complications.

  6. Evaluation of High Resolution Melting for MTHFR C677T Genotyping in Congenital Heart Disease.

    Directory of Open Access Journals (Sweden)

    Ying Wang

    Full Text Available High resolution melting (HRM is a simple, flexible and low-cost mutation screening technique. The methylenetetrahydrofolate reductase (MTHFR gene encoding a critical enzyme, potentially affects susceptibility to some congenital defects like congenital heart disease (CHD. We evaluate the performance of HRM for genotyping of the MTHFR gene C677T locus in CHD cases and healthy controls of Chinese Han population.A total of 315 blood samples from 147 CHD patients (male72, female 75 and 168 healthy controls (male 92, female 76 were enrolled in the study. HRM was utilized to genotype MTHFR C677T locus of all the samples. The results were compared to that of PCR-RFLP and Sanger sequencing. The association of the MTHFR C677T genotypes and the risk of CHD was analyzed using odds ratio with their 95% confidence interval (CIs from unconditional logistic regression.All the samples were successfully genotyped by HRM within 1 hour and 30 minutes while at least 6 hours were needed for PCR-RFLP and sequencing. The genotypes of MTHFR C677T CC, CT, and TT were 9.52%, 49.66%, and 40.82% in CHD group but 29.17%, 50% and 20.83% in control group, which were identical using both methods of HRM and PCR-RFLP, demonstrating the sensitivity and specificity of HRM were all 100%.MTHFR C677T is a potential risk factor for CHD in our local residents of Shandong province in China. HRM is a fast, sensitive, specific and reliable method for clinical application of genotyping.

  7. Congenital idiopathic talipes equinovarus: an evaluation in infants treated by the Ponseti method.

    Science.gov (United States)

    Pavone, V; Testa, G; Costarella, L; Pavone, P; Sessa, G

    2013-10-01

    Congenital talipes equinovarus (CTEV) is a common but still not fully understood disorder of the lower limb. It is usually defined as a fixation of the foot in adduction, supination, and varus. Different treatment options exist including the Ponseti method. We report here the results obtained in infants with CTEV treated by the Ponseti method. Eighty two patients (114 clubfeet) were enrolled at the Orthopaedic Clinic of Catania University during the period of March 2004 to January 2010 and followed prospectively up to February 2011: 56 patients (68.29%) were male, the anomaly was bilateral in 32 (39%) cases, unilateral in 50 (60.9%) in the right side in 28 (56%). The mean age at initiation of treatment was 14 days (range 3-81 days), severity of the club foot deformity by the Pirani Severity score was 5.56 points (range 4.3-6 points). Total numbers of Ponseti casts before tenotomy, details of tenotomy, and compliance with CTEV brace were recorded. Clinical evaluation was performed using the functional Ponseti Scoring System. Mean follow up was 4 years: range 13-83 months. An average of 6.6 casts was necessary before performing the tenotomy. Tenotomy was performed by a single surgeon (V.P.) in a total of 68 patients (82.93%) always in an operating room under general anaesthesia by a percutaneous approach at a mean age of 106 days (range 45-213 days). Compliance with CTEV brace was satisfactory in 79 patients (96.3%). Functional Ponseti Scores were good/excellent in 79 (96.34%) patients (109 clubfeet; 95.61%). Only 3 patients; 3.7% (5 clubfeet; 4.4%) suffered relapse. Poor compliance with the Denis Browne splint was thought to be the main cause of failure. The Ponseti method provides an excellent outcome at follow up in the treatment of congenital idiopathic clubfoot.

  8. Neonates at risk for congenital syphilis: radiographic and cerebrospinal fluid evaluations.

    Science.gov (United States)

    Talati, Ajay J; Koneru, Padmaja

    2011-12-01

    To review the infants at risk for congenital syphilis (CS) and determine the optimal use of evaluations such as cerebrospinal fluid (CSF), the venereal disease research laboratory (VDRL) test, and long bone radiography studies. A retrospective chart review of all of the infants at risk for CS from January 1997 to December 2002 at the Regional Medical Center at Memphis was conducted. Subjects were identified from a database of prenatal maternal records. Infant charts showing a diagnosis of presumptive CS were reviewed and data were collected. Of the 24,245 deliveries, maternal serology (rapid plasma reagin and microhemagglutination for treponemal antibody) was reactive in 250 women during pregnancy. Of 92 infants with a presumptive diagnosis of syphilis, only 2 (2.1%) were symptomatic. CSF examination for VDRL was feasible in 74 (80%) of the 92 infants. Only 1 (1.35%) of the 74 infants had a positive CSF-VDRL. Three infants had radiographic changes that were consistent with CS. The burden of syphilis in pregnancy remains high. Proper evaluation of neonates is important in preventing long-term consequences. The frequency of positive CSF and long bone radiography studies remains low. These evaluations should be made based on the symptoms and plan of treatment for individual neonates.

  9. Lumbar puncture in the evaluation of possible asymptomatic congenital syphilis in neonates.

    Science.gov (United States)

    Beeram, M R; Chopde, N; Dawood, Y; Siriboe, S; Abedin, M

    1996-01-01

    To evaluate the usefulness of lumbar puncture (LP) in the initial evaluation of symptom-free infants for congenital syphilis. We retrospectively studied infants who had successful LPs and were born to untreated or inadequately treated seropositive women between 1990 and 1993 in two hospitals in Washington, D.C. We identified 329 such symptom-free infants (syphilis group). The cerebrospinal fluid (CSF) VDRL was reactive in two (0.6%) infants. The CSF leukocyte and protein concentrations of these infants were compared with those in 84 symptom-free control infants who were born to seronegative women and who had LPs performed in 1993 to rule out sepsis because of associated risk factors. Control infants had negative results for bacterial cultures (CSF and blood) and bacterial antigen tests (CSF and urine). Thirty control subjects and 67 infants in the syphilis group had traumatic taps (CSF erythrocytes > 500 x 10(6)/L), and hence were excluded from the analysis of cell count and proteins. Birth weights and gestational ages were similar in both groups. The CSF leukocyte and protein values were similar in the syphilis group and in control infants: mean CSF leukocytes 7.7 x 10(6)/L (mean 7.7/mm3, range 0 to 57/mm3, SD 8.8) versus 6.9 x 10(6)/L (mean 6.9/mm3, range 0 to 31/mm3, SD 7), p = 0.5, and mean protein concentration 981 mg/L (range 270 to 2280 mg/L, SD 376) versus 936 mg/L (range 360 to 1750 mg/L, SD 368), p = 0.96, respectively. The combination of CSF leukocyte values > 5 x 10(6)/L (> 5/mm3) or protein values > 400 mg/L (> 40 mg/dl) was found in 97.8% of the infants in the syphilis group, compared with 95.3% of the control group. Because of the low yield of reactive CSF VDRL and the similar CSF leukocyte and protein values in the syphilis group and the control infants, the role of routine LP in the initial evaluation of symptom-free infants for congenital syphilis should be reconsidered.

  10. Anthelmintic resistance in gastrointestinal nematodes in goats and evaluation of FAMACHA diagnostic marker in Uganda.

    Science.gov (United States)

    Nabukenya, Immaculate; Rubaire-Akiiki, Chris; Olila, Deogracious; Muhangi, Denis; Höglund, Johan

    2014-10-15

    Gastrointestinal nematodes (GIN) are a challenge to goat production globally causing reduced growth, morbidity and mortality. We report here results of the first nation-wide anthelmintic resistance (AR) study and validation of assessment of clinical anaemia with FAMACHA eye scores in goats in Uganda. From August to December 2012 the efficacy of albendazole (7.5mg/kg), levamisole (10.5mg/kg) and ivermectin (0.3mg/kg) against strongyle nematodes was tested on 33 goat farms in Soroti, Gulu, Mpigi, Mbarara and Ssembabule districts of Uganda. Altogether 497 goats were subjected to a total of 45 different faecal egg count reduction tests (FECRT), each involving 5-20 goats. On one farm all substances were tested. Faecal and blood samples were collected and FAMACHA eye scores evaluated on the day of treatment and 15 days later. A questionnaire survey was conducted on frequency, type and dose of anthelmintics used, farm size and grazing management system. Examination of infective third stage larvae (L3) from pooled faecal cultures demonstrated Haemonchus to be the predominant genus (>75%). Resistance to at least one anthelmintic group was detected on 61% of the 33 farms and in 49% of the 45 test groups. Prevalence of resistance to ivermectin, levamisole and albendazole was respectively 58%, 52% and 38%. Correlation between pre-treatment packed cell volume determinations and FAMACHA scores (r(498) = -0.89) was significant. Paddock grazing system (Odds ratio 4.9, 95% CI 1.4-17.3) and large farm size of >40 goats (odds ratio 4.4, 95% CI 1.2-16.1) were significant predictors of AR. In all districts, resistance to all three anthelmintics was higher on large-scale goat farms practising mostly paddock grazing. Interestingly, resistance to albendazole, the most commonly used anthelmintic in Uganda, was lower than that to ivermectin and levamisole. We recommend adaptation of FAMACHA to goats to help restrict anthelmintic treatment to heavily infected individuals. This will limit

  11. Evaluation of the Treatment of Congenital Penile Curvature Including Psychosexual Assessment.

    Science.gov (United States)

    Zachalski, Wojciech; Krajka, Kazimierz; Matuszewski, Marcin

    2015-08-01

    Penile corporoplasty is a well-established treatment method of congenital penile deviation (CPD). Anatomical results are good with only slight differences between surgical procedures used. The disease however has huge influence on young male quality of life. This issue is not well analyzed in the literature. The aim of the study was to evaluate quality of life of the patients affected with CPD before and after the surgical treatment Study population consisted of 107 patients with CPD referred for surgical management. Patients were evaluated with not only clinical assessment, but also by four questionnaires measuring various aspects of quality of life. They were: Short-Form Medical Outcomes, Sexual Quality of Life Questionnaire for Man, Beck Depression Inventory, and International Index of Erectile Function. Quality of life measurements showed deep decrease in the general quality of life, sexual performance, depression scale, as well as in physical and mental health in men with CPD. All these parameters were restored to normal after the successful surgical treatment with any method. CPD deeply decreases the quality of life of the affected men in many aspects. Surgical treatment is able to repair the anatomical deformity and as well as significantly restore the patients' psychosocial well-being. © 2015 International Society for Sexual Medicine.

  12. Evaluation of corneal biomechanical properties using an ocular response analyser to examine aphakic and pseudophakic patients after congenital cataract surgery.

    Science.gov (United States)

    Simsek, Tulay; Soba, Dilek Ozçelik; Tırhış, Mehmet Hakan; Yılmazbaş, Pelin; Öztürk, Faruk

    2016-05-01

    We evaluated corneal biomechanical properties in aphakic and pseudophakic patients after congenital cataract surgery and compared the data with those of age-matched normal subjects. We included 43 eyes of 43 aphakic or pseudophakic patients treated via congenital cataract surgery. As controls, 42 healthy age- and sex-matched subjects were enrolled. After a complete ophthalmic examination, central corneal thickness (CCT) and intraocular pressure (IOP) were determined. Corneal hysteresis (CH), corneal resistance factor (CRF), corneal-compensated IOP (IOPcc) and Goldmann-correlated IOP (IOPg) were recorded using an ocular response analyser. In the study group, 18 eyes were aphakic and 25 eyes pseudophakic. We found a significant difference in CCT between the aphakic, pseudophakic and control groups (p 0.05). We found significant differences in IOPcc, IOPg and IOP measured with Goldmann applanation tonometry (IOPGAT ) between the study and control groups (p 0.05). Although CCT increased after congenital cataract surgery, corneal biomechanical parameters, including CH and the CRF, were not affected by such surgery. Determination of the IOPcc did not provide any additional information on true IOP, which was independent of CCT in both aphakic and pseudophakic patients after congenital cataract surgery. © 2015 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

  13. Nationwide Evaluation of Congenital Hypothyroidism Screening during Neonatal Extracorporeal Membrane Oxygenation

    NARCIS (Netherlands)

    Leeuwen, L.; Heijst, A.F.J. van; Vijfhuize, S.; Beurskens, L.W.; Weijman, G.; Tibboel, D.; Akker, E.L. van den; Ijsselstijn, H.

    2017-01-01

    BACKGROUND: Thyroid hormone concentrations may deviate from normal values during critical illness. This condition is known as nonthyroidal illness syndrome (NTIS), and it can influence the results of screening for congenital hypothyroidism (CH) during neonatal extracorporeal membrane oxygenation

  14. Gluten Sensitivity among Egyptian Infants with Congenital Heart Disease.

    Science.gov (United States)

    El-Alameey, Inas R; Ahmed, Hanaa H; Tawfik, Sawsan M; Hassaballa, Fawzia; Gawad, Ayman M Abdel; Eltahlawy, Eman

    2017-03-15

    Gastrointestinal symptoms are a common feature in infants with congenital heart disease. This study was designed to evaluate age-dependent serum levels of antigliadin antibodies among malnourished Egyptian infants with congenital heart disease (CHD) and gastrointestinal symptoms. This case-control study conducted on 60 infants with established congenital heart disease. They were subdivided into cyanotic and acyanotic groups, and each group includes 30 patients compared with thirty apparently healthy infants of matched age, sex, and social class. Serum antigliadin antibodies levels were measured using ELISA. The mean age of introduction of cereals in the diet and appearance of gastrointestinal symptoms were six months. On comparison with controls, patients showed highly significant higher serum levels of antigliadin antibodies (P < 0.000). On analysing risk factors using odds ratio, the age at onset of GIT symptoms, diarrhoea, abdominal pain, and distension had been found to be significantly associated with high serum antigliadin antibodies among malnourished CHD infants with a prediction of 95%. Serum IgA, IgM, and IgG class antibodies to gliadin play a significant role in the pathogenesis of malnutrition in infants with CHD. Gluten containing foods should never be introduced before the end of the six months.

  15. Clinical applications of radionuclide imaging in the evaluation and management of patients with congenital heart disease.

    Science.gov (United States)

    Partington, Sara L; Valente, Anne Marie; Landzberg, Michael; Grant, Frederick; Di Carli, Marcelo F; Dorbala, Sharmila

    2016-02-01

    Non-invasive testing of children with congenital heart disease (CHD) began in the 1950s with the introduction of radionuclide studies to assess shunt fractions, pulmonary blood flow, and ventricular contractile function. Echocardiography and cardiac magnetic resonance imaging have since replaced radionuclide imaging in many of these roles. Concurrently, percutaneous and surgical repairs of complex CHD evolved, creating new roles for radionuclide imaging. In this paper on applications of radionuclide imaging in CHD, we review the multiple mechanisms for myocardial ischemia in CHD. We critically compare optimal radionuclide imaging techniques to other imaging modalities for assessing ischemia in CHD. We present the current role of nuclear imaging for assessing viability and pulmonary blood flow. We highlight the value added by advances in dedicated cardiac SPECT scanners, novel reconstruction software, and cardiac PET in performing low-dose radionuclide imaging in CHD. Finally, we discuss the emerging clinical indications for radionuclide imaging in CHD including coronary flow reserve assessment and evaluation of cardiovascular prosthesis and device infections.

  16. Evaluation of prenatal diagnosis of congenital heart disease in a regional controlled case study.

    Science.gov (United States)

    Rossier, Marie-Claude; Mivelaz, Yvan; Addor, Marie-Claude; Sekarski, Nicole; Meijboom, Erik Jan; Vial, Yvan

    2014-01-01

    This study evaluated the evolution of the prenatal diagnosis of congenital heart disease (CHD) between 2003 and 2008 and its repercussion for the CHD prevalence rate at birth in a well-defined population (Canton of Vaud, Switzerland). All 572 cases of CHD reported in the Eurocat Registry of Vaud-Switzerland between 1.5.2003 and 31.12.2008 were analysed and compared with the cases in our clinical database. CHD cases were divided into five different groups according to heart disease severity. The prenatal detection rates increased significantly between 2003 and 2008, with a mean detection rate of 25.2%. There was a significantly higher rate of prenatal diagnosis in the first four groups of CHD severity, with the highest detection rate (87.5%) found in the group with the most severe CHD (group 1). In this group, 85.7% of cases resulted in a termination of pregnancy, and there was a consequent 75% reduction in the prevalence of severe major cardiac malformation at birth. Detection rates were 66% in group 2, 68.6% in group 3, and the lowest in groups 4 and 5, with rates of 25.9% and 12.9%, respectively. This study shows that the prenatal detection rate for CHD increased in a well-defined population over the study period. Prenatal diagnosis thus has had a major impact on patients with the most severe types of CHD and has resulted in a significant reduction in severe CHD at birth.

  17. Evaluation of Pulse Oximetry in the Early Detection of Cyanotic Congenital Heart Disease in Newborns.

    Science.gov (United States)

    Movahedian, Amir Hosein; Mosayebi, Ziba; Sagheb, Setareh

    2016-04-13

    Background: Delayed or missed diagnosis of critical and cyanotic congenital heart disease (CHD) in asymptomatic newborns may result in significant morbidity and mortality. The aim of this study was to determine the accuracy of pulse oximetry screening performed on the first day of life for the early detection of critical and cyanotic CHD in apparently normal newborns. Methods: This cross-sectional study used postductal pulse oximetry to evaluate term neonates born between 2008 and 2011 with normal physical examinations. Functional oxygen saturation types of CHD in our patients were tetralogy of Fallot (3 cases), transposition of the great vessels (2 cases), double-outlet right ventricle (2 cases), truncus arteriosus, total anomalous pulmonary venous return, atrioventricular septal defect, pulmonary atresia, persistent pulmonary hypertension, ventricular septal defect, and atrial septal defect (1 case for each type). The best time for pulse oximetry was within 8-24 hours of the newborns' life. Conclusion: Pulse oximetry screening along with clinical examination may be able to assist in the early detection of critical and cyanotic CHD in asymptomatic newborns.

  18. Nutritional status evaluation in patients affected by Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Silvia eToni

    2014-11-01

    Full Text Available Collagen VI mutations lead to disabling myopathies like Bethlem Myopathy (BM and Ullrich Congenital Muscular Dystrophy (UCMD. We have investigated the nutritional and metabolic status of one UCMD and seven BM patients (5 female, 3 male, mean age 31 ± 9 years in order to find a potential metabolic target for nutritional intervention. For this study, we used standard anthropometric tools, such as BMI evaluation and body circumference measurements. All results were compared to Dual Energy X ray Absorptiometry (DXA, considered the gold standard method. Energy intake of each patient was evaluated through longitudinal methods (7-day food diary while Resting Energy Expenditure (REE was predicted using specific equations and measured by indirect calorimetry. Clinical evaluation included general and nutritional blood and urine laboratory analyses and quantitative muscle strength measurement by hand-held dynamometry. BM and UCMD patients showed an altered body composition, characterized by low Free Fat Mass (FFM and high Fat Mass (FM, allowing us to classify them as sarcopenic, and all but one as sarcopenic-obese. Another main result was the negative correlation between REE/FFM ratio (basal energy expenditure per kg of fat-free mass and the severity of the disease, as defined by the muscle megascore (Correlation Coefficient -0.955, P value < 0.001. We postulate that the increase of the REE/FFM ratio in relation to the severity of the disease may be due to an altered and pathophysiological loss of energetic efficiency at the expense of skeletal muscle. We show that a specific metabolic disequilibrium is related to the severity of the disease, which may represent a target for a nutritional intervention in these patients.

  19. Evaluation of early and late complications in patients with congenital lobar emphysema: A 12 year experience

    Directory of Open Access Journals (Sweden)

    Nazem Masood

    2010-01-01

    Full Text Available Background: Congenital lobar emphysema (CLE is characterised by over distension of one lobe and pressure on the adjacent lobe and mediastinum. In this study, we review the pathological results of our paediatric patients with CLE, highlighting the early and late complications that occurred in these patients. Patients and Methods: In a prospective study from 1996 to 2008, we evaluated 30 patients with CLE diagnosis. Variables collected included sex, age at the time of diagnosis, radiological diagnostic method, type of treatment, pathological analysis, surgical findings and early postoperative complications. Parents were asked to refer to our clinic for follow-up and evaluation of late complications. Results: Thirty patients and males accounted for majority of the study population (n = 20, 67%. The mean age of male and female patients (at admission was 7.2 ± 2.3 and 4.7 ± 1.2 months respectively (P = not significant. The main diagnostic method was chest x-ray (CXR in all patients. Abnormal bronchial cartilage was found in 71% of patients. The most affected lobe was left upper lobe (50%. Associated anomalies were seen in four patients. Early postoperative periodhadtwo cases of pneumothoraces. At six month follow up, five (25% males and four females (40% had delayed weight gain. Permanent oxygen dependency was seen in two patients. Twenty- six patients underwent thoracotomy. Mortality rate was 13%. Base deficit at the time of admission was greater in those patients who eventually died, (-8.6 ± 1.2 versus -3.1 ± 0.4 (P = 0.0003. There were two deaths in the bilobar involvement group and two in the unilobar involvement group (P = 0.07, near significant. Conclusion: This study confirms that the number of affected lobes and base deficit at the time of admission were associated with significantly increased mortality.

  20. Syphilis in pregnancy and congenital syphilis in Amazonas State, Brazil: an evaluation using database linkage.

    Science.gov (United States)

    Soeiro, Claudia Marques de Oliveira; Miranda, Angélica Espinosa; Saraceni, Valeria; Santos, Marcelo Cordeiro dos; Talhari, Sinesio; Ferreira, Luiz Carlos de Lima

    2014-04-01

    This study analyzes notification of syphilis in pregnancy and congenital syphilis in Amazo- nas State, Brazil, from 2007 to 2009 and verifies underreporting in databases in the National Information System on Diseases of Notification (SINAN) and the occurrence of perinatal deaths associated with congenital syphilis and not reported in the Mortality Information System (SIM). This was a cross-sectional study with probabilistic record linkage between the SINAN and SIM. There were 666 reports of syphilis in pregnant women, including 224 in 2007 (3.8/1,000), 244(4.5/1,000) in 2008, and 198(4.0/1,000) in 2009. The study found 486 cases of congenital syphilis, of which 153 in 2007 (2.1/1,000), 193 in 2008 (2.6/1,000), and 140 in 2009 (2.0/1,000). After linkage of the SINAN databases, 237 pregnant women (35.6%) had cases of congenital syphilis reported. The SIM recorded 4,905 perinatal deaths, of which 57.8% were stillbirths. Probabilistic record linkage between SIM and SINAN-Congenital Syphilis yielded 13 matched records. The use of SINAN and SIM may not reflect the total magnitude of syphilis, but provide the basis for monitoring and analyzing this health problem, with a view towards planning and management.

  1. Comparative evaluation of RetCam vs. gonioscopy images in congenital glaucoma

    Directory of Open Access Journals (Sweden)

    Raj V Azad

    2014-01-01

    Full Text Available Purpose: To compare clarity, exposure and quality of anterior chamber angle visualization in congenital glaucoma patients, using RetCam and indirect gonioscopy images. Design: Cross-sectional study Participants. Congenital glaucoma patients over age of 5 years. Materials and Methods: A prospective consecutive pilot study was done in congenital glaucoma patients who were older than 5 years. Methods used are indirect gonioscopy and RetCam imaging. Clarity of the image, extent of angle visible and details of angle structures seen were graded for both methods, on digitally recorded images, in each eye, by two masked observers. Outcome Measures: Image clarity, interobserver agreement. Results: 40 eyes of 25 congenital glaucoma patients were studied. RetCam image had excellent clarity in 77.5% of patients versus 47.5% by gonioscopy. The extent of angle seen was similar by both methods. Agreement between RetCam and gonioscopy images regarding details of angle structures was 72.50% by observer 1 and 65.00% by observer 2. Conclusions: There was good agreement between RetCam and indirect gonioscopy images in detecting angle structures of congenital glaucoma patients. However, RetCam provided greater clarity, with better quality, and higher magnification images. RetCam can be a useful alternative to gonioscopy in infants and small children without the need for general anesthesia.

  2. Narrow-band imaging with magnifying endoscopy for the evaluation of gastrointestinal lesions.

    Science.gov (United States)

    Boeriu, Alina; Boeriu, Cristian; Drasovean, Silvia; Pascarenco, Ofelia; Mocan, Simona; Stoian, Mircea; Dobru, Daniela

    2015-02-16

    Narrow band imaging (NBI) endoscopy is an optical image enhancing technology that allows a detailed inspection of vascular and mucosal patterns, providing the ability to predict histology during real-time endoscopy. By combining NBI with magnification endoscopy (NBI-ME), the accurate assessment of lesions in the gastrointestinal tract can be achieved, as well as the early detection of neoplasia by emphasizing neovascularization. Promising results of the method in the diagnosis of premalignant and malignant lesions of gastrointestinal tract have been reported in clinical studies. The usefulness of NBI-ME as an adjunct to endoscopic therapy in clinical practice, the potential to improve diagnostic accuracy, surveillance strategies and cost-saving strategies based on this method are summarized in this review. Various classification systems of mucosal and vascular patterns used to differentiate preneoplastic and neoplastic lesions have been reviewed. We concluded that the clinical applicability of NBI-ME has increased, but standardization of endoscopic criteria and classification systems, validation in randomized multicenter trials and training programs to improve the diagnostic performance are all needed before the widespread acceptance of the method in routine practice. However, published data regarding the usefulness of NBI endoscopy are relevant in order to recommend the method as a reliable tool in diagnostic and therapy, even for less experienced endoscopists.

  3. Is Congenital Syphilis Really Congenital Syphilis?

    Directory of Open Access Journals (Sweden)

    Yi Li

    2006-01-01

    Full Text Available Detroit has recently been distinguished as having the highest congenital syphilis rate in the United States (250.3 cases per 100 000 live births in Detroit versus 10.3 in the US. However, depending on each health department's followup and CDC reporting, these data may not accurately reflect the true congenital syphilis rate. This study examines the reported cases over a three-year time period with focus on the criteria used for diagnosis. All local health department congenital syphilis CDC collection forms (form 73.126 were reviewed for the years in question. The reported congenital syphilis cases in the year 2002–2004 in Detroit were reviewed. No cases met confirmed case criteria and few probable cases were based on neonatal evaluations. The majority of “congenital syphilis” cases were established based on incomplete maternal data such as missing followup serologic titers in the absence of complete neonatal information. In conclusion, although the reported congenital syphilis rate in Detroit is alarmingly high, the true occurrence of congenital syphilis is likely to have been overstated. A health department reporting program that includes more diligent neonatal followup would allow for a more accurate representation of this public health concern.

  4. Evaluation of alpha-synuclein immunohistochemical methods for the detection of Lewy-type synucleinopathy in gastrointestinal biopsies.

    Science.gov (United States)

    Corbillé, Anne-Gaëlle; Letournel, Franck; Kordower, Jeffrey H; Lee, John; Shanes, Elisheva; Neunlist, Michel; Munoz, David G; Derkinderen, Pascal; Beach, Thomas G

    2016-04-04

    The observation showing that Lewy type synucleinopathy (LTS), the pathological hallmark of Parkinson's disease (PD), is found in the gut of almost all PD subjects led to a substantial amount of research to develop a diagnostic procedure in living patients based on endoscopically obtained gastrointestinal biopsies. However, the existing studies have provided conflicting results regarding the sensitivity and specificity of gastrointestinal biopsies for the detection of LTS. We therefore undertook a multi-center staining and blinded judging of a common set of slides from colonic biopsies to determine the optimal protocol for the detection of LTS. Four different immunohistochemical methods, developed in four separate expert laboratories, were evaluated for their sensitivity and specificity to detect enteric LTS. Test sets of formalin-fixed, paraffin-embedded sections from biopsies of 9 PD subjects and 3 controls were stained with the 4 methods and graded by 4 different observers. Four types of staining morphology (granular staining in the lamina propria, perivascular/vascular wall staining in the submucosa, lacy-granular pattern in the submucosa and epithelial cell nuclear staining) were variably observed in the slides stained by the 4 methods. Positive alpha-synuclein staining was observed by all 5 judges in most of the slides from control cases, regardless of the staining methods that were used. Moreover, none of the tested method or staining pattern had a specificity and sensitivity more than 80 % regarding to PD. Overall, our study suggest that the tested methods are not adequate for the prediction of PD using gastrointestinal biopsies. Future studies are warranted to test new immunostaining methods.

  5. Evaluation of preventative and control measures for congenital syphilis in State of Mato Grosso.

    Science.gov (United States)

    Oliveira, Leila Regina de; Costa, Maria da Conceição Nascimento; Barreto, Florisneide Rodrigues; Pereira, Susan Martins; Dourado, Inês; Teixeira, Maria Glória

    2014-01-01

    Congenital syphilis is an important health problem in Brazil. This study assessed measures aimed at the prevention and control of syphilis in the State of Mato Grosso and its capital, Cuiabá. A descriptive study cross-sectional and of time trends assessing the congenital syphilis was performed in Cuiabá and Mato Grosso between 2001 and 2011. We compared maternal sociodemographic characteristics and health care utilization related to cases of congenital syphilis during the periods from 2001 to 2006 and from 2007 to 2011. We assessed the temporal trends in this disease's incidence using a simple linear regression. Between 2001 and 2006 in Mato Grosso, 86.8% of the mothers who had live births with congenital syphilis received prenatal care, 90.6% presented with a nontreponemal test reagent at delivery, 96.2% had no information regarding a treponemal confirmatory test at delivery, and 77.6% received inadequate treatment for syphilis; additionally, 75.8% of their partners were not treated. There was a statistically significant reduction in prenatal visits (p = 0.004) and an increase in the proportion of mothers reactive to nontreponemal tests at delivery (p = 0.031) between the two periods. No other variables were found to differ significantly between the periods. In Cuiabá, we observed a similar distribution of variables. In the state and in the capital, the increasing trend of congenital syphilis was not statistically significant. The high incidence of congenital syphilis in Mato Grosso and the low levels of health care indicators for pregnant women with syphilis suggest the need to improve the coverage and quality of prenatal care.

  6. Evaluation of preventative and control measures for congenital syphilis in State of Mato Grosso

    Directory of Open Access Journals (Sweden)

    Leila Regina de Oliveira

    2014-06-01

    Full Text Available Introduction Congenital syphilis is an important health problem in Brazil. This study assessed measures aimed at the prevention and control of syphilis in the State of Mato Grosso and its capital, Cuiabá. Methods A descriptive study cross-sectional and of time trends assessing the congenital syphilis was performed in Cuiabá and Mato Grosso between 2001 and 2011. We compared maternal sociodemographic characteristics and health care utilization related to cases of congenital syphilis during the periods from 2001 to 2006 and from 2007 to 2011. We assessed the temporal trends in this disease's incidence using a simple linear regression. Results Between 2001 and 2006 in Mato Grosso, 86.8% of the mothers who had live births with congenital syphilis received prenatal care, 90.6% presented with a nontreponemal test reagent at delivery, 96.2% had no information regarding a treponemal confirmatory test at delivery, and 77.6% received inadequate treatment for syphilis; additionally, 75.8% of their partners were not treated. There was a statistically significant reduction in prenatal visits (p = 0.004 and an increase in the proportion of mothers reactive to nontreponemal tests at delivery (p = 0.031 between the two periods. No other variables were found to differ significantly between the periods. In Cuiabá, we observed a similar distribution of variables. In the state and in the capital, the increasing trend of congenital syphilis was not statistically significant. Conclusions The high incidence of congenital syphilis in Mato Grosso and the low levels of health care indicators for pregnant women with syphilis suggest the need to improve the coverage and quality of prenatal care.

  7. Evaluation of Fetuses in the Preventive IVIG Therapy for Congenital Heart Block (PITCH) study

    Science.gov (United States)

    Friedman, Deborah M.; Llanos, Carolina; Izmirly, Peter M.; Brock, Brigit; Byron, John; Copel, Joshua; Cummiskey, Karen; Anne Dooley, Mary; Foley, Jill; Graves, Cornelia; Hendershott, Collen; Kates, Richard; Komissarova, Elena V.; Miller, Michelle; Paré, Emmanuelle; Phoon, Colin K. L.; Prosen, Tracy; Reisner, Dale; Ruderman, Eric; Samuels, Philip; Yu, Jerry K.; Kim, Mimi Y.; Buyon, Jill P.

    2011-01-01

    Objective The recurrence rate of anti-SSA/Ro associated congenital heart block (CHB) is 17%. Reversal of 3rd degree block has never been achieved. Based on potential reduction of maternal autoantibody titers as well as fetal inflammatory responses, IVIG was evaluated as a preventative therapy for CHB. Methods A multicenter open-label study based on Simon’s 2-stage optimal design was initiated. Enrollment criteria included: maternal anti-SSA/Ro antibody, a previous child with CHB/rash, 400mg/kg) was given every 3 weeks from 12 to 24 weeks of gestation. The primary outcome was the development of 2nd or 3rd degree CHB. Results Twenty mothers completed the IVIG protocol before reaching the pre-determined stopping rule of three cases of advanced CHB. CHB was detected at 19, 20 and 25 weeks; none followed an abnormal PR interval. One of these mothers had two previous children with CHB. One child without CHB developed a transient rash consistent with neonatal lupus. Sixteen children had no manifestations of neonatal lupus at birth. No significant changes in maternal antibody titers to SSA/Ro, SSB/La, or Ro52 were detected over the course of therapy or at delivery. There were no safety issues. Conclusions IVIG at doses consistent with replacement does not prevent the recurrence of CHB or reduce maternal antibody titers. Having established safety with this protocol and feasibility of patient enrollment, subsequent preventative studies may be considered, perhaps to include higher doses of IVIG. PMID:20391423

  8. Planispheric multiplanar reformatted CT: a new method for evaluation of paediatric congenital spine abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Menten, Renaud; Saint-Martin, Christine; Clapuyt, Philippe [Saint Luc University Hospital, Department of Paediatric Radiology, Brussels (Belgium); Mousny, Maryline [Saint Luc University Hospital, Department of Paediatric Orthopaedics, Brussels (Belgium)

    2005-06-01

    We describe an original reconstruction method for spine CT performed in four patients with single or multiple congenital spine abnormalities. Conventional radiographic imaging is at the forefront of diagnosis and follow-up of congenital scoliosis, but is frequently difficult to interpret. Three-dimensional CT reconstruction facilitates visualization of complex anatomic structures, but does not give a reliable assessment of failures of segmentation. Mental three-dimensional reconstruction of the information displayed by classical multiplanar reformatted CT remains difficult. Planispheric reformatted imaging allows the visualization of all deformities in a single plane. (orig.)

  9. [Early evaluation of anaemia in patients with acute gastrointestinal bleeding: venous blood gas analysis compared to conventional laboratory].

    Science.gov (United States)

    Benítez Cantero, José Manuel; Jurado García, Juan; Ruiz Cuesta, Patricia; González Galilea, Angel; Muñoz García-Borruel, María; García Sánchez, Valle; Gálvez Calderón, Carmen

    2013-10-19

    Evaluation of patients with acute gastrointestinal bleeding (AGB) requires early clinical evaluation and analysis. The aim of this study is to evaluate early concordance of hemoglobin (Hb) and hematocrit (HTC) levels determined by conventional venous blood gas analysis (VBG) and by conventional Laboratory in Emergencies (LAB). Observational and prospective study of patients admitted in the Gastrointestinal Haemorrhage Unit with both high and low AGB. Demographic and clinical variables and simultaneous venous blood samples were obtained to determine Hb and HTC by VBG and LAB. Concordance in both methods was analysed by intra-class correlation coefficient (ICC) and Bland-Altman analysis. One hundred and thirty-two patients were included: 87 (65.9%) males, average age 66.8 years. VBG overestimated Hb in 0.49 g/dl (95% confidence interval: 0.21-0.76) with respect to LAB. Concordance was very high in Hb (ICC 0.931) and high in HTC (0.899), with the Bland-Altman graphs showing both concordance and overestimation of Hb levels determined by VBG. In 19 patients (14.39%), Hb by VBG exceeded in more than 1g/dL the final determination obtained by LAB. Early determination of Hb and HTC in patients with AGB by VBG provides reliable results in the initial evaluation of anaemia. VBG systematically overestimates Hb values by less than 0.5 g/dl, and therefore clinical and hemodynamic evaluation of the bleeding patient should prevail over analytical results. Copyright © 2012 Elsevier España, S.L. All rights reserved.

  10. A randomized trial to evaluate the risk of gastrointestinal disease due to consumption of drinking water meeting current microbiological standards.

    Science.gov (United States)

    Payment, P; Richardson, L; Siemiatycki, J; Dewar, R; Edwardes, M; Franco, E

    1991-01-01

    BACKGROUND: This project directly and empirically measured the level of gastrointestinal (GI) illness related to the consumption of tapwater prepared from sewage-contaminated surface waters and meeting current water quality criteria. METHODS: A randomized intervention trial was carried out; 299 eligible households were supplied with domestic water filters (reverse-osmosis) that eliminate microbial and chemical contaminants from their water, and 307 households were left with their usual tapwater without a filter. The GI symptomatology was evaluated by means of a family health diary maintained prospectively by all study families over a 15-month period. RESULTS: The estimated annual incidence of GI illness was 0.76 among tapwater drinkers compared with 0.50 among filtered water drinkers (p less than 0.01). These findings were consistently observed in all population subgroups. CONCLUSION: It is estimated that 35% of the reported GI illnesses among the tapwater drinkers were water-related and preventable. Our results raise questions about the adequacy of current standards of drinking water quality to prevent water-borne endemic gastrointestinal illness. PMID:2029037

  11. Developing and Evaluating Virtual Cardiotomy for Preoperative Planning in Congenital Heart Disease

    DEFF Research Database (Denmark)

    Sørensen, Thomas Sangild; Beerbaum, Philipp; Mosegaard, Jesper

    2009-01-01

    Careful preoperative planning is of outmost importance -- in particular when considering complex corrective surgery on congenitally malformed hearts. As an aid to such decisionsmaking we describe a system for virtual reconstruction of patient-specific morphology from 3D-capable imaging modalities...

  12. Congenital Hypothyroidism

    Science.gov (United States)

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

  13. Congenital toxoplasmosis

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001360.htm Congenital toxoplasmosis To use the sharing features on this page, please enable JavaScript. Congenital toxoplasmosis is a group of symptoms that occur when ...

  14. Evaluation of Pulse Oximetry in the Early Detection of Cyanotic Congenital Heart Disease in Newborns

    Directory of Open Access Journals (Sweden)

    Amir Hosein Movahedian

    2016-10-01

    Full Text Available Background: Delayed or missed diagnosis of critical and cyanotic congenital heart disease (CHD in asymptomatic newborns may result in significant morbidity and mortality. The aim of this study was to determine the accuracy of pulse oximetry screening  performed on the first day of life for the early detection of critical and cyanotic CHD in apparently normal newborns.Methods: This cross-sectional study used postductal pulse oximetry to evaluate term neonates born between 2008 and 2011 with normal physical examinations. Functional oxygen saturation < 95% was considered abnormal, and second measurement was done 2 hours later. If the second measurement remained < 95%, an echocardiogram was performed. On enrolment in the study, the following data for each neonate were recorded: gestational age, gender, birth weight, mode of delivery, and mother’s age.Results: During the study period, totally 3,846 newborns were evaluated. Of the whole study population, 304 (7.9% babies  had a  postductal functional saturation < 95%. The second measurement was also < 95% in 104 (2.7% neonates. The mean age of the neonates at the time of pulse oximetry was 18.91 ± 8.61 (min = 4.5 and max = 49 hours. Forty-nine percent of the subjects were female and 51% were male. Echocardiography was performed on 81 out of 104 newborns, and 14 (0.36% of them had CHD. The types of CHD in our patients were tetralogy of Fallot (3 cases, transposition of the great vessels (2 cases, double-outlet right ventricle (2 cases, truncus arteriosus, total anomalous pulmonary venous return, atrioventricular septal defect, pulmonary atresia, persistent pulmonary hypertension, ventricular septal defect, and atrial septal defect (1 case for each type. The best time for pulse oximetry was within 8-24 hours of the newborns’ life.Conclusion: Pulse oximetry screening along with clinical examination may be able to assist in the early detection of critical and cyanotic CHD in asymptomatic newborns.

  15. Gastrointestinal tattoos.

    Science.gov (United States)

    Snider, T E; Goodell, W M; Pulitzer, D R

    1994-06-01

    Tattooing of the gastrointestinal tract is used to facilitate the relocation of biopsy sites or other sites of interest at the time of subsequent biopsy or surgery. Submucosal injection of sterile india ink produces a zone of blue-black coloration that is grossly visible from both the mucosal and serosal surfaces. The pathology of gastrointestinal tattoos has only been briefly mentioned previously in the medical literature. We report two cases of gastrointestinal tattooing: one that was done to mark the margin of resection in a patient with gastric lymphoma, and the second that occurred unintentionally following the administration of activated charcoal for drug overdosage in a patient with undiagnosed active inflammatory bowel disease. Unintentional tattooing of the gastrointestinal tract has, therefore, not been reported.

  16. Role of endoscopy in evaluating upper gastrointestinal tract lesions in rural population

    Directory of Open Access Journals (Sweden)

    Sharanabasavaraj Javali

    2015-01-01

    Full Text Available Background and Objectives: Before the advent of endoscopy direct access to the lesion for the confirmation of the diagnosis was difficult, this posed difficulty in contemplating adequate and appropriate surgery. Endoscopy as a diagnostic and therapeutic tool has grown in recent years. Upper gastrointestinal (GI endoscopy is one of the most fascinating branch which serves not only as a means of resolving or amplifying the diagnosis made clinically or by X-ray, but also a primary diagnostic procedure for conditions not otherwise diagnosable on unoperated case. Fiber optic upper GI endoscopy has already become firmly established as a reliable, quick and inexpensive tool. This study was done to detect the upper gastrointestinal lesions in rural population of Kolar District, the distribution pattern of various upper GI lesions in patients presenting with upper GI symptoms and to follow the endoscopic diagnosis for medical and surgical management. Materials and Methods: The study group includes patients reporting to outpatient department and also the inpatients in wards of General Surgery and other departments, who have upper GI symptoms, were advised endoscopy at R. L. JALAPPA Hospital and Research Centre, Kolar, from a period of December 2011 to August 2013. Results: Of the 600 cases, 370 were males, and 230 were females. Disease incidence was highest in 51-70 years age group, that is, 21.6%. Pain abdomen was the most common symptom. Epigastric tenderness was the most common sign among the patients clinically. Reflux esophagitis and diffuse gastritis formed most common cases (307 cases. The incidence of duodenitis - 7.83%, peptic ulcer -3.3%, esophageal varices - 1.5%, the incidence of carcinoma esophagus and carcinoma stomach was approximately same that is, 4.5% and 4.6% respectively. The incidence of esophageal candidiasis was 4.16%. The majority of the patients had a normal study that is, 14.5%. Conclusion: Upper GI lesions were more common in

  17. Pharmacological Evaluation of Prosopis cineraria (L. Druce in Gastrointestinal, Respiratory, and Vascular Disorders

    Directory of Open Access Journals (Sweden)

    Khalid Hussain Janbaz

    2012-01-01

    Full Text Available In this paper, a crude methanolic extract from the stem bark of Prosopis cineraria, a plant native of Pakistan, was tested for its possible presence of spasmolytic, bronchodilator, and vasodilator activities in an attempt to validate some of its folkloric uses. Moreover, attempts were made to provide plausible explanations of the observed biological activities. The extract caused relaxation of the spontaneous as well as K+ (80 mM-induced contractions at tissue bath concentrations of 3–10 mg/mL in isolated rabbit jejunum preparations, probably mediated through blockade of Ca+2 channels. This finding was further confirmed by the shifting of the Ca+2 concentration response curves to the rightward in a manner similar to verapamil used as a standard Ca+2 channel blocker. The extract also exhibited nonspecific relaxant effect on carbachol (1 μM- and K+ (80 mM-induced contractions in isolated rabbit tracheal preparations. The same effect was recorded for phenylephrine (11 μM and K+ (80 mM-induced contractions in isolated rabbit aortic preparations in a manner similar to verapamil. These observations confirm that observed bronchodilator and vasodilator activities were possibly mediated through blockade of Ca+2 channels. The above-mentioned observations validate the traditional use of the plant in the treatment of respiratory and gastrointestinal ailments.

  18. Economic evaluation and efficacy of strategic-selective treatment of gastrointestinal parasites in dairy calves

    Directory of Open Access Journals (Sweden)

    Yuly Andrea Caicedo Blanco

    Full Text Available Abstract In the Experimental Farm of the Universidade Federal de Lavras (EF-UFLA, state of Minas Gerais, Brazil, on their day of birth, female Holstein calves were randomly selected and placed into two groups containing fifteen animals each: Strategic-Selective Treatment (S-ST or Conventional Treatment (CT. In the S-ST, calves were treated after coproparasitological examinations according to criteria established previously by the researchers. Calves in the CT were treated according to the opinion of the veterinarian of EF-UFLA. For statistical analysis, the frequency (% of fecal samples with count of eggs per gram of feces (EPG ≥300, count of oocysts per gram of feces (OoPG ≥500 and fecal samples with count of cysts of Giardia spp. ≥1 were conducted. The overall average frequency of fecal samples with EPG ≥300, OoPG ≥500 and Giardia spp. cysts ≥1, respectively, was similar (p >0.05 between S-ST (20.3%; 17.3%; and 31.5% and CT (26.4%; 23.9%; and 37.3%. The effective operational cost, per animal, in 12 months, was of R$ 784.58 (US$ 241.41 and R$ 83.90 (US$ 25.81 in S-ST and CT, respectively. The S-ST requires adjustments to be used as a technically efficient and economically viable alternative for the control of gastrointestinal parasitosis in female Holstein calves.

  19. Evaluation of the antioxidant activity in food model system of fish peptides released during simulated gastrointestinal digestion

    DEFF Research Database (Denmark)

    Nieva-Echevarria, B.; Jacobsen, Charlotte; García Moreno, Pedro Jesús

    and the generation of potentially toxic oxidation products. Regarding fish composition, the high content in polyunsaturated ω-3 acyl groups renders its lipids especially prone to oxidation. However, fish is also a major source of protein, which could greatly influence the extent of oxidation reactions taking place...... in the gastrointestinal tract. In fact, several studies have reported antioxidant activity of fish protein hydrolysates, coming from fish industry waste by-products (3,4). Thus, the potential release of peptides showing antioxidant properties during fish digestion cannot be ruled out. In order to shed light...... on these aspects, in vitro digestates of European sea bass were submitted to ultrafiltration using membranes with different cut off size. Afterwards, the potential antioxidant activity of the peptide fractions obtained was evaluated by comparing the oxidative stability of fish oil-in-water emulsions (5...

  20. Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.

    Science.gov (United States)

    Akinci, Gulcin; Topaloglu, Haluk; Akinci, Baris; Onay, Huseyin; Karadeniz, Cem; Ergul, Yakup; Demir, Tevfik; Ozcan, Emin Evren; Altay, Canan; Atik, Tahir; Garg, Abhimanyu

    2016-06-01

    Congenital generalized lipodystrophy type 4 is an extremely rare autosomal recessive disorder. We report our clinical experience on two unrelated Turkish patients with congenital generalized lipodystrophy type 4. A 13-year-old girl (patient-1) presented with generalized lipodystrophy and myopathy. Further tests revealed ventricular and supraventricular arrhythmias, gastrointestinal dysmotility, atlantoaxial instability, lumbosacral scoliosis, and metabolic abnormalities associated with insulin resistance. A 16-year-old girl (patient-2) with congenital generalized lipodystrophy type 4 was previously reported. Here, we report on her long term clinical follow-up. She received several course of anti-arrhythmic treatments for catecholaminergic polymorphic ventricular tachycardia and rapid atrial fibrillation. An implantable cardioverter defibrillator was also placed. A homozygous PTRF mutation, c.259C > T (p.Gln87*), was identified in patient-1. Congenital generalized lipodystrophy type 4 was caused by homozygous PTRF c.481-482insGTGA (p.Lys161Serfs*41) mutation in patient-2. Our data indicate that patients with congenital generalized lipodystrophy type 4 should be meticulously evaluated for cardiac, neuromuscular, gastrointestinal and skeletal diseases, as well as metabolic abnormalities associated with insulin resistance. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  1. Evaluation of the BioFire FilmArray® GastrointestinalPanel in a Midwestern Academic Hospital.

    Science.gov (United States)

    Murphy, C N; Fowler, R C; Iwen, P C; Fey, P D

    2017-04-01

    The BioFire FilmArray® Gastrointestinal Panel (GIP) was implemented to replace traditional stool culture and enzyme immunoassay (EIA) testing for stool pathogens. The purpose of this study was to evaluate the detection rate, incidence of coinfection, and culture recovery rate of gastrointestinal (GI) pathogens detected by the GIP over a 1-year period. A total of 2257 stools collected from January to December 2015 were tested using the GIP. Clostridium difficile colonization was also evaluated by an antigen/toxin EIA and confirmatory polymerase chain reaction (PCR). The GIP detected one pathogen in 911 (40.4%) specimens. Coinfections were detected in 176 (7.8%) of these specimens. The most frequently detected pathogens were C. difficile (15.2%), norovirus (8.9%), enteropathogenic Escherichia coli (7.1%), enteroaggregative E. coli (3.4%), Campylobacter spp. (2.3%), and sapovirus (2.0%). Each of the remaining GIP targets had a detection rate of ≤1.6%. The recovery of bacteria for public health investigations varied, with rates as high as 77% for Salmonella to as low as 30% for Yersinia enterocolitica. Of stools positive for C. difficile on the GIP that were tested by EIA, only 42.7% (88/206) were found to be producing detectable toxin. Overall, the implementation of the GIP resulted in high detection rates of GI pathogens, including the frequent detection of coinfections. This is a promising test to streamline the testing of agents causing infectious gastroenteritis from multiple tests down to a single order with limited hands-on time. Ongoing studies will need to assess the impact that the GIP has on downstream patient care and public health practices.

  2. Evaluation of antimotility effect of Lantana camara L. var. acuelata constituents on neostigmine induced gastrointestinal transit in mice

    Directory of Open Access Journals (Sweden)

    Sehgal Rajesh

    2005-09-01

    Full Text Available Abstract Background Lantana camara L. (Verbenaceae, a widely growing shrub which is toxic to some animal species, has been used in the traditional medicine for treating many ailments. The purpose of the present study was to evaluate the antimotility effects of Lantana camara leaf constituents in mice intestine. Methods Evaluation of antimotility activity was done in intestine of mice treated with Lantana camara leaf powder, Lantana camara methanolic extract (LCME, lantadene A, neostigmine and neostigmine + LCME. Neostigmine was used as a promotility agent. Intestinal motility was assessed by charcoal meal test and gastrointestinal transit rate was expressed as the percentage of the distance traversed by the charcoal divided by the total length of the small intestine. The antidiarrheal effect of LCME was studied against castor oil induced diarrhea model in mice. Results The intestinal transit with LCME at a dose of 500 mg/kg was 26.46% whereas the higher dose (1 g/kg completely inhibited the transit of charcoal in normal mice. The % intestinal transit in the neostigmine pretreated groups was 24 and 11 at the same doses respectively. When the plant extracts at 125 and 250 mg/kg doses were administered intraperitonealy, there was significant reduction in fecal output compared with castor oil treated mice. At higher doses (500 and 1000 mg/kg, the fecal output was almost completely stopped. Conclusion The remarkable antimotility effect of Lantana camara methanolic extract against neostigmine as promotility agent points towards an anticholinergic effect due to Lantana camara constituents and attests to its possible utility in secretory and functional diarrheas and other gastrointestinal disorders. This effect was further confirmed by significant inhibition of castor oil induced diarrhea in mice by various doses of LCME.

  3. Evaluation of antimotility effect of Lantana camara L. var. acuelata constituents on neostigmine induced gastrointestinal transit in mice.

    Science.gov (United States)

    Sagar, Lenika; Sehgal, Rajesh; Ojha, Sudarshan

    2005-09-17

    Lantana camara L. (Verbenaceae), a widely growing shrub which is toxic to some animal species, has been used in the traditional medicine for treating many ailments. The purpose of the present study was to evaluate the antimotility effects of Lantana camara leaf constituents in mice intestine. Evaluation of antimotility activity was done in intestine of mice treated with Lantana camara leaf powder, Lantana camara methanolic extract (LCME), lantadene A, neostigmine and neostigmine + LCME. Neostigmine was used as a promotility agent. Intestinal motility was assessed by charcoal meal test and gastrointestinal transit rate was expressed as the percentage of the distance traversed by the charcoal divided by the total length of the small intestine. The antidiarrheal effect of LCME was studied against castor oil induced diarrhea model in mice. The intestinal transit with LCME at a dose of 500 mg/kg was 26.46% whereas the higher dose (1 g/kg) completely inhibited the transit of charcoal in normal mice. The % intestinal transit in the neostigmine pretreated groups was 24 and 11 at the same doses respectively. When the plant extracts at 125 and 250 mg/kg doses were administered intraperitonealy, there was significant reduction in fecal output compared with castor oil treated mice. At higher doses (500 and 1000 mg/kg), the fecal output was almost completely stopped. The remarkable antimotility effect of Lantana camara methanolic extract against neostigmine as promotility agent points towards an anticholinergic effect due to Lantana camara constituents and attests to its possible utility in secretory and functional diarrheas and other gastrointestinal disorders. This effect was further confirmed by significant inhibition of castor oil induced diarrhea in mice by various doses of LCME.

  4. Complex Genital Malformation in a Female with Congenital Adrenal Hyperplasia: Evaluation with Magnetic Resonance Imaging

    Energy Technology Data Exchange (ETDEWEB)

    Klessen, C.; Asbach, P.; Hein, P. A.; Beyersdorff, D.; Hamm, B.; Taupitz, M. [Humboldt-Univ. of Berlin, Campus Charite Mitte (Germany). Dept. of Radiology

    2005-12-01

    This is a case of complex genital malformation in a young patient with congenital adrenal hyperplasia. The magnetic resonance imaging (MRI) findings included ostium of the vagina into the urethra (common urogenital opening), prostate-like tissue surrounding the urethra, and hyperplasia of the left adrenal gland. The report provides information on the clinical findings, the MRI examination, including the applied sequences and the MR findings, and gives an overview of the disease pattern and its frequency of occurrence.

  5. Update: Interim Guidance for the Diagnosis, Evaluation, and Management of Infants with Possible Congenital Zika Virus Infection - United States, October 2017.

    Science.gov (United States)

    Adebanjo, Tolulope; Godfred-Cato, Shana; Viens, Laura; Fischer, Marc; Staples, J Erin; Kuhnert-Tallman, Wendi; Walke, Henry; Oduyebo, Titilope; Polen, Kara; Peacock, Georgina; Meaney-Delman, Dana; Honein, Margaret A; Rasmussen, Sonja A; Moore, Cynthia A

    2017-10-20

    CDC has updated its interim guidance for U.S. health care providers caring for infants with possible congenital Zika virus infection (1) in response to recently published updated guidance for health care providers caring for pregnant women with possible Zika virus exposure (2), unknown sensitivity and specificity of currently available diagnostic tests for congenital Zika virus infection, and recognition of additional clinical findings associated with congenital Zika virus infection. All infants born to mothers with possible Zika virus exposure* during pregnancy should receive a standard evaluation at birth and at each subsequent well-child visit including a comprehensive physical examination, age-appropriate vision screening and developmental monitoring and screening using validated tools (3-5), and newborn hearing screen at birth, preferably using auditory brainstem response (ABR) methodology (6). Specific guidance for laboratory testing and clinical evaluation are provided for three clinical scenarios in the setting of possible maternal Zika virus exposure: 1) infants with clinical findings consistent with congenital Zika syndrome regardless of maternal testing results, 2) infants without clinical findings consistent with congenital Zika syndrome who were born to mothers with laboratory evidence of possible Zika virus infection, † and 3) infants without clinical findings consistent with congenital Zika syndrome who were born to mothers without laboratory evidence of possible Zika virus infection. Infants in the first two scenarios should receive further testing and evaluation for Zika virus, whereas for the third group, further testing and clinical evaluation for Zika virus are not recommended. Health care providers should remain alert for abnormal findings (e.g., postnatal-onset microcephaly and eye abnormalities without microcephaly) in infants with possible congenital Zika virus exposure without apparent abnormalities at birth.

  6. Comparative evaluation of two commercial multiplex panels for detection of gastrointestinal pathogens by use of clinical stool specimens.

    Science.gov (United States)

    Khare, Reeti; Espy, Mark J; Cebelinski, Elizabeth; Boxrud, David; Sloan, Lynne M; Cunningham, Scott A; Pritt, Bobbi S; Patel, Robin; Binnicker, Matthew J

    2014-10-01

    The detection of pathogens associated with gastrointestinal disease may be important in certain patient populations, such as immunocompromised hosts, the critically ill, or individuals with prolonged disease that is refractory to treatment. In this study, we evaluated two commercially available multiplex panels (the FilmArray gastrointestinal [GI] panel [BioFire Diagnostics, Salt Lake City, UT] and the Luminex xTag gastrointestinal pathogen panel [GPP] [Luminex Corporation, Toronto, Canada]) using Cary-Blair stool samples (n = 500) submitted to our laboratory for routine GI testing (e.g., culture, antigen testing, microscopy, and individual real-time PCR). At the time of this study, the prototype (non-FDA-cleared) FilmArray GI panel targeted 23 pathogens (14 bacterial, 5 viral, and 4 parasitic), and testing of 200 μl of Cary-Blair stool was recommended. In contrast, the Luminex GPP assay was FDA cleared for the detection of 11 pathogens (7 bacterial, 2 viral, and 2 parasitic), but had the capacity to identify 4 additional pathogens using a research-use-only protocol. Importantly, the Luminex assay was FDA cleared for 100 μl raw stool; however, 100 μl Cary-Blair stool was tested by the Luminex assay in this study. Among 230 prospectively collected samples, routine testing was positive for one or more GI pathogens in 19 (8.3%) samples, compared to 76 (33.0%) by the FilmArray and 69 (30.3%) by the Luminex assay. Clostridium difficile (12.6 to 13.9% prevalence) and norovirus genogroup I (GI)/GII (5.7 to 13.9% prevalence) were two of the pathogens most commonly detected by both assays among prospective samples. Sapovirus was also commonly detected (5.7% positive rate) by the FilmArray assay. Among 270 additional previously characterized samples, both multiplex panels demonstrated high sensitivity (>90%) for the majority of targets, with the exception of several pathogens, notably Aeromonas sp. (23.8%) by FilmArray and Yersinia enterocolitica (48.1%) by the Luminex

  7. Evaluation of Chapman's neurolymphatic reflexes via applied kinesiology: a case report of low back pain and congenital intestinal abnormality.

    Science.gov (United States)

    Caso, Marcello L

    2004-01-01

    To describe the applied kinesiologic evaluation of Chapman's neurolymphatic (NL) reflexes in the management of a person with an unusual congenital bowel abnormality and its role in the manifestation of low back pain. The theoretical foundations of these reflexes will be elaborated on and practical applications discussed. A 29-year-old man had chronic low back pain. Radiographs of the patient's lumbar spine and pelvis were normal. Magnetic resonance imaging (MRI) demonstrated a mild protrusion of the fifth lumbar disk. Oral anti-inflammatory agents, cortisone injections, and chiropractic manipulative therapy provided little relief. Though generally in robust health, the patient was aware of a congenital intestinal abnormality diagnosed when he was a child; it was thought to be of no consequence with regard to his current back condition. The patient's history, combined with applied kinesiology examination, indicated a need to direct treatment to the large bowel. The essential diagnostic indicators were the analysis of the Chapman's neurolymphatic reflexes themselves, coupled with an evaluation of the traditional acupuncture meridians. The primary prescribed therapy was the stimulation of these reflexes by the patient at home. This intervention resulted in the resolution of the patient's musculoskeletal symptomatology, as well as improved bowel function. The rather remarkable outcome from the application of this relatively simple, yet valuable, diagnostic and therapeutic procedure represents a thought-provoking impetus for future study and clinical application.

  8. In vitro evaluation of gastrointestinal survival of Lactobacillus amylovorus DSM 16698 alone and combined with galactooligosaccharides, milk and/or Bifidobacterium animalis subsp. lactis Bb-12

    NARCIS (Netherlands)

    Martinez, R.C.R.; Anynaou, A.E.; Albrecht, S.A.; Schols, H.A.; Martinis, de E.C.P.; Zoetendal, E.G.; Venema, K.; Saad, S.M.I.; Smidt, H.

    2011-01-01

    Probiotic properties of Lactobacillus amylovorus DSM 16698 were previously demonstrated in piglets. Here, its potential as a human probiotic was studied in vitro, using the TIM-1 system, which is fully validated to simulate the human upper gastrointestinal tract. To evaluate the effect of the food

  9. Congenital Diaphragmatic Hernia

    Directory of Open Access Journals (Sweden)

    Tovar Juan A

    2012-01-01

    Full Text Available Abstract 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

  10. Role of 128 slice MSCT angiography in evaluation of congenital extra-cardiac intra-thoracic vascular anomalies in children

    Directory of Open Access Journals (Sweden)

    Hossam Mansour Abd El-Rahman

    2017-09-01

    Full Text Available Purpose: To investigate the value and highlight the role of multi slice computed tomography (MSCT angiography in evaluation of extra-cardiac intra thoracic vascular anomalies in children. Patients and methods: This study included 24 patients (13 males and 11 females with an age range of 1 month–13 years. All of these patients were clinically diagnosed to have congenital heart disease with suspected extracardiac vascular anomalies. All underwent prospective ECG-gated MSCT angiography after trans-thoracic echocardiography (TTE. Iterative reconstruction techniques were applied to reduce the radiation dose in MSCT angiography with the mean radiation dose of (4 mSv. The diagnostic accuracy and sensitivity of MSCT angiography and TTE were compared in comparison with surgical outcome. Results: The most common congenital extra cardiac vascular anomalies are PDA (45.8% and aortic coarctation (37.5%. The major CT angiographic findings missed by TTE were coronary artery anomalies, absence of a pulmonary artery and pulmonary artery stenosis. The overall sensitivity of the MSCT angiography in diagnosis of the extra-cardiac vascular anomalies was 98.1% which was higher than that of TTE 80%. Conclusion: CG gated MSCT angiography is an accurate modality for demonstrating extra cardiac structures in complex CHD. It provides important complementary information to TTE with regard to extra cardiac vascular structures and coronary artery anatomy. This modality may reduce the need for high radiation dose invasive diagnostic cardiac catheterization. Keywords: MSCT, TTE, Iterative reconstruction, CHD, Congenital extra cardiac vascular lesions

  11. Case Report Duplication Of Gastrointestinal Tract

    African Journals Online (AJOL)

    Duplications of the alimentary tract are rare congenital malformations that may be found anywhere along the entire gastrointestinal tract. They may vary in presentation, size, location, and ... well developed coat of smooth muscle, and inner mucosal lining. Several theories have been proposed for the development but the ...

  12. Evaluation of nutritional status and support in children with congenital heart disease.

    Science.gov (United States)

    Blasquez, A; Clouzeau, H; Fayon, M; Mouton, J-B; Thambo, J-B; Enaud, R; Lamireau, T

    2016-04-01

    The objective of this disease was to determine the prevalence of malnutrition in children with congenital heart disease (CHD). A total of 125 children with CHD, under 6 months of age, were divided into four groups: no pulmonary hypertension (PH) or cyanosis (group 1, n=47), isolated cyanosis (group 2, n=52), isolated PH (group 3, n=16), and PH and cyanosis (group 4, n=10). Six children died at 6 months (n=4), 12 months (n=1) and 19 months (n=1). The remaining children were followed-up for 24 months. Prevalence of moderate to severe malnutrition (weight/weight for height nutritional support.

  13. Bilateral congenital midureteric strictures associated with multicystic dysplastic kidney and hydronephrosis: evaluation with MR urography

    Energy Technology Data Exchange (ETDEWEB)

    Grattan-Smith, J.D.; Little, Stephen [Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States); Jones, Richard A. [Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States); Emory University School of Medicine, Department of Radiology, Atlanta, GA (United States); Kirsch, Andrew J. [Emory University School of Medicine, Department of Pediatric Urology, Atlanta, GA (United States)

    2011-01-15

    We report a case of bilateral congenital midureteric strictures diagnosed using MR urography. The severity of obstruction differed in the two ureters, resulting in a multicystic dysplastic kidney (MCDK) with an atretic ureter on one side and hydronephrosis that worsened over time due to progressive stenosis on the other. Although midureteric strictures are usually misdiagnosed as ureteropelvic junction (UPJ) or ureterovesical junction (UVJ) obstruction on conventional imaging, MR urography was able to clearly demonstrate both the anatomical and functional abnormalities. Additionally, because of the excellent anatomical resolution, similarities in the underlying pathological lesions could be contrasted with the severity of the pathophysiological impact upon each kidney. (orig.)

  14. Evaluation of the protection conferred by a naturally attenuated Neospora caninum isolate against congenital and cerebral neosporosis in mice.

    Science.gov (United States)

    Rojo-Montejo, Silvia; Collantes-Fernández, Esther; López-Pérez, Inmaculada; Risco-Castillo, Verónica; Prenafeta, Antoni; Ortega-Mora, Luis Miguel

    2012-08-22

    The parasite Neospora caninum is an important abortifacient agent in cattle worldwide. At present, the development of an effective and safe vaccine against bovine neosporosis is of great relevance. Recently, a new isolate of N. caninum (Nc-Spain 1 H) which was obtained from the brain of an asymptomatic congenitally infected calf, exhibited non-virulent behaviour in mouse and bovine infection models. The aim of this study was to determine the safety and efficacy of Nc-Spain 1 H when used as a vaccinal isolate in well-established BALB/c models of congenital and cerebral neosporosis. Mice were subcutaneously immunised twice at 3-week intervals and were challenged with 2 × 106 tachyzoites of the virulent Nc-Liv isolate. After immunisation with live Nc-Spain 1 H tachyzoites, no parasitic DNA was detected in the dams' brains before challenge and microsatellite analysis performed in PCR-positive mice showed that the profiles corresponded to the challenge isolate Nc-Liv, indicating the Nc-Spain 1 H isolate to be a safe vaccine candidate. The efficacy of the live vaccine was evaluated in the first experiment after the immunisation of mice with 5 × 105 live Nc-Spain 1 H tachyzoites. This immunisation protocol significantly reduced the neonatal mortality to 2.4%, reduced the vertical transmission from 89.1% to 2.3% and completely limited the cerebral infection. These results were associated with a Th1-type immune response. In the second experiment, the effect of various immunising doses was established using ten-fold dilutions of the tachyzoites (from 5 × 105 to 5 × 10). In all the cases, congenital protection rates above 60% were observed, and the mice that were immunised with the lowest dose (5 × 10) presented the highest protection rate (86%). Moreover, low immunising doses of Nc-Spain 1 H induced an IgG2a response, and high parasitic doses induced an IgG1 response. These results evidence the safety and the efficient protection that was

  15. Evaluation of the protection conferred by a naturally attenuated Neospora caninum isolate against congenital and cerebral neosporosis in mice

    Directory of Open Access Journals (Sweden)

    Rojo-Montejo Silvia

    2012-08-01

    Full Text Available Abstract The parasite Neospora caninum is an important abortifacient agent in cattle worldwide. At present, the development of an effective and safe vaccine against bovine neosporosis is of great relevance. Recently, a new isolate of N. caninum (Nc-Spain 1 H which was obtained from the brain of an asymptomatic congenitally infected calf, exhibited non-virulent behaviour in mouse and bovine infection models. The aim of this study was to determine the safety and efficacy of Nc-Spain 1 H when used as a vaccinal isolate in well-established BALB/c models of congenital and cerebral neosporosis. Mice were subcutaneously immunised twice at 3-week intervals and were challenged with 2 × 106 tachyzoites of the virulent Nc-Liv isolate. After immunisation with live Nc-Spain 1 H tachyzoites, no parasitic DNA was detected in the dams’ brains before challenge and microsatellite analysis performed in PCR-positive mice showed that the profiles corresponded to the challenge isolate Nc-Liv, indicating the Nc-Spain 1 H isolate to be a safe vaccine candidate. The efficacy of the live vaccine was evaluated in the first experiment after the immunisation of mice with 5 × 105 live Nc-Spain 1 H tachyzoites. This immunisation protocol significantly reduced the neonatal mortality to 2.4%, reduced the vertical transmission from 89.1% to 2.3% and completely limited the cerebral infection. These results were associated with a Th1-type immune response. In the second experiment, the effect of various immunising doses was established using ten-fold dilutions of the tachyzoites (from 5 × 105 to 5 × 10. In all the cases, congenital protection rates above 60% were observed, and the mice that were immunised with the lowest dose (5 × 10 presented the highest protection rate (86%. Moreover, low immunising doses of Nc-Spain 1 H induced an IgG2a response, and high parasitic doses induced an IgG1 response. These results evidence the safety and the

  16. Clinical and morphological characteristics of malformations in infants with congenital cytomegalovirus infection and congenital toxoplasmosis

    Directory of Open Access Journals (Sweden)

    L. Yu. Barycheva

    2015-01-01

    Full Text Available The results of following up infants with intrauterine infections and malformations were retrospectively analyzed. Infants with malformations were diagnosed as having congenital cytomegalovirus infection and congenital toxoplasmosis in 127 and 69 cases, respectively. The aim of the study was to characterize malformations in infants with congenital cytomegalovirus and congenital Toxoplasma infections. The infants with malformations in congenital cytomegalovirus infection were found to have higher mortality rates (61,4% than those with congenital toxoplasmosis (34,8%. Postmortem analysis indicated that there was a predominance of embryopathies in infants with congenital cytomegalovirus infection and that of fetopathies in those with congenital toxoplasmosis. The dead infants with congenital cytomegalovirus infection had more commonly developed visceral defects, including heart diseases, pneumopathies, gastrointestinal and genitourinary abnormalities; fetopathies of the central nervous system and eye were prevalent in congenital toxoplasmosis. The surviving children with congenital toxoplasmosis were more frequently observed to have disabling CNS and ocular sequels as obstructive hydrocephalus, infantile cerebral palsy, complete or partial blindness, and cerebrasthenic disorders than those with congenital cytomegalovirus infection. 

  17. Gastrointestinal System

    NARCIS (Netherlands)

    Jepson, Mark A.; Bouwmeester, Hans

    2017-01-01

    The epithelial lining of the gastrointestinal tract (GIT) acts as a barrier to uptake of potentially dangerous material while allowing absorption of processed food. The gut may be exposed to a diverse range of engineered nanomaterials due to their deliberate addition to food and consumer products

  18. An evaluation of disease knowledge in dyads of parents and their adolescent children with congenital heart disease.

    Science.gov (United States)

    Yang, Hsiao-Ling; Chen, Yueh-Chih; Wang, Jou-Kou; Gau, Bih-Shya; Moons, Philip

    2013-01-01

    Congenital heart disease (CGHD) can be considered a chronic disease for many patients. To adopt a healthy lifestyle and to avoid complications, patients with CGHD and their parents need to have good knowledge of the heart defect and its consequences. The aims of this study were to evaluate patient and parental knowledge of CGHD and to explore the related factors of their respective disease knowledge. This study included 116 dyads of adolescents with CGHD (43.1% male adolescents; aged 12-18 years) and one of their parents (79.3% mothers; median age, 46 years). All participants completed the Leuven Knowledge Questionnaire for Congenital Heart Disease, and then we calculated a correct rate score to determine the overall disease knowledge of the respondents. The correct rate score was 38.8% for adolescents with CGHD and 51.4% for parents (t = 7.69; P parents was their educational level (standardized estimate = 6.160, P adolescents, knowledge was determined by age (standardized estimate = 2.242, P = .002) and parental knowledge (standardized estimate = 0.311, P parents have significantly greater disease knowledge than their children do, the level of knowledge in both parents and adolescents is suboptimal. Because parents' knowledge influenced their adolescents' knowledge, educational interventions should target both adolescent patients and parents. Transition programs can play a pivotal role in this respect.

  19. Digital evaluation of orbital development after self-inflating hydrogel expansion in Chinese children with congenital microphthalmia.

    Science.gov (United States)

    Hou, Zhijia; Xian, Junfang; Chang, Qinglin; Wei, Wenbin; Li, Dongmei

    2016-05-01

    Assessment of the growth of bony orbit in children with blind microphthalmia is essential to its management. In this study, variables were measured to evaluate the development of the bony microphthalmic orbits after treatment with self-inflating hydrogel expanders. This is a retrospective study with an interventional case series. Thirteen pediatric patients with congenital unilateral blind microphthalmia who had undergone tissue expansion with hydrogel expanders and computed tomography (CT) scanning before and after operation were included in the study. The orbital volume, depth, width, and height and retardation of the orbital rims before and after treatment were measured and analyzed using the iPlan Cranial Software. The mean age at the time of first implantation was 44 months (range, 3-113 months). Of the 13 patients, eleven received orbital expansion, while two received socket expansion. In the orbital expansion group, the mean microphthalmic/contralateral ratio (MCR) of orbital volume was 79.3% before surgery, which increased to 89.8% 3 years post operation (P measurement (P = 0.004). It is also noted that the development of the microphthalmic orbits was limited in the two patients who only underwent socket expansion. The affected orbit enlarged in children with congenital blind microphthalmia following treatment with hydrogel expanders; this suggested that microphthalmia-associated orbital asymmetry can be treated with self-inflating hydrogel expanders. Copyright © 2016 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  20. Measurement of nuchal translucency for prenatal screening of congenital heart defects: a population-based evaluation.

    Science.gov (United States)

    Jouannic, Jean-Marie; Thieulin, Anne-Claire; Bonnet, Damien; Houyel, Lucile; Lelong, Nathalie; Goffinet, François; Khoshnood, Babak

    2011-12-01

    (1) Assess sensitivity of the measurement of nuchal translucency (NT), for the prenatal screening of congenital heart defect (CHD) on population-based data; (2) examine whether the sensitivity of NT varies for specific types of cardiac defects. Using population-based data of the Paris Registry of Congenital Malformation for 935 fetuses with CHD and without chromosomal anomalies for the period 2001 to 2007, we calculated sensitivity of NT, its positive predictive value and likelihood ratio, for all CHD and for six types of CHD. Sensitivity of NT was 7.1 and 4.2% for the 2.5 and 3.5 mm cut-off values, respectively; when isolated ventricular septal defects were excluded, sensitivity increased to 9.9 and 6.3%. Positive predictive values were 1.1 and 3.2% for 2.5 and 3.5 mm cut-offs, respectively. Of the six defects examined, sensitivity of NT was highest for heterotaxy followed by hypoplastic left heart syndrome and coarctation of aorta. Prevalence of CHD was about fourfold higher for fetuses with NT ≥ 3.5 mm (3.2%) than in the general population. This higher risk is comparable to that of other risk factors commonly used for early referral to specialized echocardiography. Nevertheless, our results, suggest that NT is not a very effective or efficient tool for the prenatal screening of CHD. Copyright © 2011 John Wiley & Sons, Ltd.

  1. Contrast fluoroscopic evaluation of gastrointestinal transit times with and without the use of falconry hoods in red-tailed hawks (Buteo jamaicensis).

    Science.gov (United States)

    Doss, Grayson A; Williams, Jackie M; Mans, Christoph

    2017-11-01

    OBJECTIVE To evaluate gastrointestinal transit times in red-tailed hawks (Buteo jamaicensis) by use of contrast fluoroscopic imaging and investigate the effect of falconry hooding in these hawks on gastrointestinal transit time. DESIGN Prospective, randomized, blinded, complete crossover study. ANIMALS 9 healthy red-tailed hawks. PROCEDURES Hawks were gavage-fed a 30% weight-by-volume barium suspension (25 mL/kg [11.3 mL/lb]) into the crop. Fluoroscopic images were obtained at multiple time points after barium administration. Time to filling and emptying of various gastrointestinal tract organs and overall transit time were measured. The effect of hooding (hooded vs nonhooded) on these variables was assessed in a randomized complete crossover design. RESULTS In nonhooded birds, overall gastrointestinal transit time ranged from 30 to 180 minutes (mean ± SD, 100 ± 52 min). Time to complete crop emptying ranged from 30 to 180 minutes (83 ± 49 min). Contrast medium was present in the ventriculus in all birds within 5 minutes of administration and in the small intestines within 5 to 15 minutes (median, 5 min). Hooding of red-tailed hawks resulted in a significant delay of complete crop emptying (no hood, 83 ± 49 minutes; hood, 133 ± 48 minutes), but no significant effects of hooding were found on other measured variables. CONCLUSIONS AND CLINICAL RELEVANCE These results indicated that overall gastrointestinal transit times are faster in red-tailed hawks than has been reported for psittacines and that the use of a falconry hood in red-tailed hawks may result in delayed crop emptying. Hooding did not exert significant effects on overall gastrointestinal transit time in this raptorial species.

  2. Epidemiology of congenital abnormalities in West Africa: Results of a descriptive study in teaching hospitals in Abidjan: Cote d′Ivoire

    Directory of Open Access Journals (Sweden)

    Bertin Dibi Kouame

    2015-01-01

    Full Text Available Background: Congenital abnormalities constitute one of the major causes of infant mortality, particularly in developing countries. The aim of this study was to describe the epidemiology of congenital anomalies in Cote d′Ivoire. Materials and Methods: It was a multicentric study of three academic hospitals and the Heart Institute of Abidjan over 10 years. The epidemiologic Data concerned the Parturients, the annual frequency of congenital abnormalities. Distribution of the congenital abnormalities according to the organs, overall mortality and lethality of congenital abnormalities were evaluated. Results: Over 10 years, 1.632 newborns with 1.725 congenital anomalies were recorded. Frequency was 172.5 congenital anomalies per annum. Parturients were less than 35 years in 33% of cases, multigravida in 20%, multiparous in 18% and had a low socio economic status in 96% of cases. Prenatal diagnosis of congenital anomalies was performed in 1.5%. Congenital anomalies were orthopedic in 34%, neurological in 17%, gastrointestinal in 15%, facial in 11.5%, parietal in 13%, urogenital in 9% and cardiac in 0.5% of cases. The overall mortality rate of congenital anomalies was 52% and gastroschisis was the most lethal disease with 100% mortality. Conclusion: This descriptive study reveals the low socio economic status of Parturients with congenital anomalies and their poor prenatal diagnosis. These factors explain the very high mortality of congenital anomalies due to a delay management in our country in which medical expenses were borne by parents and where technical platforms remain obsoletes for good resuscitation and neonatal surgery.

  3. Evaluation of gastrointestinal leakage in multiple enteric inflammation models in chickens

    Directory of Open Access Journals (Sweden)

    Vivek A. Kuttappan

    2015-12-01

    Full Text Available Enteric inflammation models can help researchers study methods to improve health and performance plus evaluate various growth promoters and dietary formulations targeted to improve performance in poultry. Oral administration of fluorescein isothiocyanate dextran (FITC-d; 3-5 kDa and its pericellular mucosal epithelial leakage is an established marker to evaluate enteric inflammation in multiple species. The present study evaluated different methods to induce gut inflammation in poultry based on FITC-d leakage. Four independent experiments were completed with different inflammation treatment groups; serum FITC-d and/or retention of FITC-d in GI tract was/were determined. In experiment 1 (n=10 birds/treatment; broilers; processed at 14d, groups included control (CON, Dextran sodium sulfate (DSS; drinking water at 0.75% and feed restriction (FRS; 24h before processing. Experiment 2 (n=14birds/treatment; leghorns; processed at 7d included CON, DSS, FRS, and rye based diet (RBD. In experiments 3 and 4 (n=15 birds/treatment; broilers; processed at 7d, groups were CON, DSS, high fat diet (HFD, FRS, and RBD. In all experiments, FRS and RBD treatments showed significantly higher serum FITC-d levels compared to the respective CON. This indicates that FRS and RBD results in disruption of the intact barrier of the GIT, resulting in increased gut permeability. DSS and HFD groups showed elevation of serum FITC-d levels although the magnitude of difference from respective CON were inconsistent between experiments. FRS was the only treatment which consistently showed elevated retention of FITC-d in GIT in all experiments. The results from present studies showed that FRS and RBD, based on serum FITC-d levels, can be robust models to induce gut leakage in birds in different age and species/strains.

  4. Evaluation of endogenous nitric oxide synthesis in congenital urea cycle enzyme defects.

    Science.gov (United States)

    Nagasaka, Hironori; Tsukahara, Hirokazu; Yorifuji, Tohru; Miida, Takashi; Murayama, Kei; Tsuruoka, Tomoko; Takatani, Tomozumi; Kanazawa, Masaki; Kobayashi, Kunihiko; Okano, Yoshiyuki; Takayanagi, Masaki

    2009-03-01

    Nitric oxide (NO) is synthesized from arginine and O(2) by nitric oxide synthase (NOS). Citrulline, which is formed as a by-product of the NOS reaction, can be recycled to arginine by the 2 enzymes acting in the urea cycle: argininosuccinate synthetase (ASS) and argininosuccinate lyase (ASL). Although the complete urea cycle is expressed only in the liver, ASS and ASL are expressed in other organs including the kidney and vascular endothelium. To examine possible alterations of the NO pathway in urea cycle defects, we measured plasma concentrations of arginine and citrulline and serum concentrations of nitrite/nitrate (NOx(-), stable NO metabolites) and asymmetric dimethylarginine (ADMA, an endogenous NOS inhibitor) in patients with congenital urea cycle disorders of 3 types: ornithine transcarbamylase (OTC) deficiency, ASS deficiency, and ASL deficiency. All were receiving oral arginine replacement at the time of this study. The same parameters were also measured in healthy subjects, who participated as controls. The OTC-deficient patients had significantly high NOx(-) and nonsignificantly high ADMA concentrations. Their NOx(-) was significantly positively correlated with arginine. The ASS-deficient patients had significantly low NOx(-) and significantly high ADMA concentrations. The ASL-deficient patients had normal NOx(-) and nonsignificantly high ADMA concentrations. In ASS-deficient and ASL-deficient patients, the NOx(-) was significantly inversely correlated with citrulline. These results suggest that NO synthesis is enhanced in OTC-deficient patients while receiving arginine but that NO synthesis remains low in ASS-deficient patients despite receiving arginine. They also suggest that endogenous NO synthesis is negatively affected by citrulline and ADMA in ASS-deficient and ASL-deficient patients. Although the molecular mechanisms remain poorly understood, we infer that the NO pathway might play a role in the pathophysiology related to congenital urea cycle

  5. Exploring Value in Congenital Heart Disease: An Evaluation of Inpatient Admissions.

    Science.gov (United States)

    Shin, Andrew Y; Hu, Zhongkai; Jin, Bo; Lal, Sangeeta; Rosenthal, David N; Efron, Bradley; Sharek, Paul J; Sutherland, Scott M; Cohen, Harvey J; McElhinney, Doff B; Roth, Stephen J; Ling, Xuefeng B

    2015-01-01

    Understanding value provides an important context for improvement. However, most health care models fail to measure value. Our objective was to categorize inpatient encounters within an academic congenital heart program based on clinical outcome and the cost to achieve the outcome (value). We aimed to describe clinical and nonclinical features associated with value. We defined hospital encounters based on outcome per resource utilized. We performed principal component and cluster analysis to classify encounters based on mortality, length of stay, hospital cost and revenue into six classes. We used nearest shrunken centroid to identify discriminant features associated with the cluster-derived classes. These features underwent hierarchical clustering and multivariate analysis to identify features associated with each class. We analyzed all patients admitted to an academic congenital heart program between September 1, 2009, and December 31, 2012. A total of 2658 encounters occurred during the study period. Six classes were categorized by value. Low-performing value classes were associated with greater institutional reward; however, encounters with higher-performing value were associated with a loss in profitability. Encounters that included insertion of a pediatric ventricular assist device (log OR 2.5 [95% CI, 1.78 to 3.43]) and acquisition of a hospital-acquired infection (log OR 1.42 [95% CI, 0.99 to 1.87]) were risk factors for inferior health care value. Among the patients in our study, institutional reward was not associated with value. We describe a framework to target quality improvement and resource management efforts that can benefit patients, institutions, and payers alike. © 2015 Wiley Periodicals, Inc.

  6. [The evaluation of the risk factors for congenital hypothyroidism: the outlook of a case-control study].

    Science.gov (United States)

    Grandolfo, M E; Sagliocca, L; Stazi, M A; Medda, E; Olivieri, A; Sorcini, M

    1994-01-01

    The availability of a National Register of congenital hypothyroid infants allowed to perform descriptive studies on characteristics of the cases and the efficiency of the neonatal screening. Continuous and exhaustive recording of data concerning congenital hypothyroidism cases provided valuable epidemiological informations about congenital hypothyroidism in Italy. Moreover, the National Register allowed to develop a network of collaboration which can promote a population based case-control study. As the etiopathogenesis of congenital hypothyroidism has not been completely elucidated, performing of a case-control study can contribute to evidence the most important risk factors of congenital hypothyroidism and to improve the prevention also by prenatal diagnosis of this disease. Screening centers will be involved in the study and questionnaires of the National Register for congenital hypothyroidism will be used to record case and control informations. A biological bank concerning cases, controls and their parents, will be organized.

  7. Spectrum of cyanotic congenital heart disease diagnosed by echocardiographic evaluation in patients attending paediatric cardiology clinic of a tertiary cardiac care centre.

    Science.gov (United States)

    Patra, Soumya; Rama Sastry, Usha M K; Mahimaiha, J; Subramanian, Anand P; Shankarappa, Ravindranath K; Nanjappa, Manjunath C

    2015-06-01

    Cyanotic CHD comprises up to 25% of cases of all causes of CHD. There is lack of data about the present spectrum of congenital cyanotic heart disease in the paediatric age group. The present study was undertaken to determine the spectrum of patients with congenital cyanotic heart disease in the paediatric age group in tertiary paediatric cardiac care clinic. Prospective observational study. Paediatric cardiac clinic of a tertiary cardiac care centre. All children aged 0-18 years with suspected cyanotic CHD were provisionally included in this study. They underwent a thorough echocardiographic evaluation, and those patients who had definitive diagnosis of congenital cyanotic heart disease were included for final analysis. A total of 119 children met the inclusion criteria. Tetralogy of Fallot and its variant were the most common congenital cyanotic heart disease with proportion of about 44%. Other common malformations were double outlet right ventricle (14%), pulmonary atresia with ventricular septal defect (8%), total anomalous pulmonary venous connection (7%), d-transposition of the great arteries (9%), tricuspid valve anomalies--tricuspid atresia and Ebstein's anomaly--hypoplastic left-heart syndrome, truncus arteriosus, and complex CHD such as single ventricle. Tetralogy of Fallot and its variants were the most common cyanotic heart disease diagnosed in our patients. As there were a significant proportion of cases with complex cyanotic CHD, paediatric cardiologists should be familiar with the diagnosis and management of all these complex congenital malformations of the heart.

  8. Placental histopathology of congenital syphilis.

    Science.gov (United States)

    Sheffield, Jeanne S; Sánchez, Pablo J; Wendel, George D; Fong, David W I; Margraf, Linda R; Zeray, Fiker; McIntire, Donald D; Barton Rogers, Beverly

    2002-07-01

    To evaluate the contribution of placental histopathology to the diagnosis of congenital syphilis. From January 1, 1986, through December 31, 1998, all pregnant women presenting to a large, urban Dallas County labor and delivery unit with untreated syphilis at delivery and who had placental evaluation performed were identified. Women were clinically staged, and the infants were evaluated for congenital syphilis using a standard protocol. Each placenta was evaluated by two independent pathologists. Histologic characteristics of the placenta related to congenital syphilis in live-born and stillborn infants were then analyzed. Sixty-seven women met the study criteria: 33 (49%) stillborn and 18 (27%) live-born infants with congenital syphilis, 15 (22%) uninfected live-born infants, and one uninfected stillborn fetus diagnosed by current criteria. There were no differences between the groups with regard to demographic characteristics, prenatal care, or stage of syphilis. Stillborn infants were more likely to deliver preterm (P gestational age, histopathology revealed necrotizing funisitis, villous enlargement, and acute villitis associated with congenital syphilis. Erythroblastosis was more common in stillborn infants with congenital syphilis than all live-born infants (odds ratio 16, 95% confidence interval 1, 370). The addition of histologic evaluation to conventional diagnostic evaluations improved the detection rate for congenital syphilis from 67% to 89% in live-born infants, and 91% to 97% in stillborn infants. Our results show that histopathologic examination of the placenta is a valuable adjunct to the contemporary diagnostic criteria used to diagnose congenital syphilis.

  9. Congenital anterior penile isolated urethrocutaneous fistula: A case ...

    African Journals Online (AJOL)

    Urethrocutaneous fistula is a common complication after hypospadias repair. If congenital, it is usually associated with other genitourinary and gastrointestinal anomalies. Isolated congenital urethral fistula is a very rare anomaly. We present a 4-year old circumcised boy with this unusual anomaly. Etiology, embryology, and ...

  10. Evaluation of procedures for the conservation and culture of gastrointestinal parasites from free ranging primates

    Directory of Open Access Journals (Sweden)

    Fernando Nassar Montoya

    2005-05-01

    Full Text Available Obtaining good quality fecal samples from freeranging New World Primates is normally a slow and expensive task. So, it is necessary to ensure good sample handling for the optimisation of preservation and diagnosis. During some parasitological studies carried out by the Centro Araguatos, we obtained larvae from coprocultures and fecal samples preserved in a preservative (MIF. These procedures allowed us to study deeper the parasites of free-ranging monkeys. However, we have found problems: like the rapid desiccation of fecal samples in the coprocultures and some limitations on the implementation of the quantitative diagnostic procedures. This study evaluated the effect, use and limitations of using coprocultures and conserving the parasite eggs and cysts in MIF for the study of parasites in free-ranging New World Primates. The results show that it is possible to implement an efficient methodology for the conservation and parasitological analysis of fecal samples of New World Primates using both coprocultures and eggs conserved in MIF. This enhances the capacity of studies and improves diagnostic possibility. The larvae in the fecal samples show better growth in a proportion of fecal sample: substrate (sawdust of 1:1, in culturing periods ranging from 7 to 15 days. A good dilution of feces: MIF for the conservation of eggs and quists is 1:10.

  11. Population-based evaluation of a suggested anatomic and clinical classification of congenital heart defects based on the International Paediatric and Congenital Cardiac Code

    Directory of Open Access Journals (Sweden)

    Goffinet François

    2011-10-01

    Full Text Available Abstract Background Classification of the overall spectrum of congenital heart defects (CHD has always been challenging, in part because of the diversity of the cardiac phenotypes, but also because of the oft-complex associations. The purpose of our study was to establish a comprehensive and easy-to-use classification of CHD for clinical and epidemiological studies based on the long list of the International Paediatric and Congenital Cardiac Code (IPCCC. Methods We coded each individual malformation using six-digit codes from the long list of IPCCC. We then regrouped all lesions into 10 categories and 23 subcategories according to a multi-dimensional approach encompassing anatomic, diagnostic and therapeutic criteria. This anatomic and clinical classification of congenital heart disease (ACC-CHD was then applied to data acquired from a population-based cohort of patients with CHD in France, made up of 2867 cases (82% live births, 1.8% stillbirths and 16.2% pregnancy terminations. Results The majority of cases (79.5% could be identified with a single IPCCC code. The category "Heterotaxy, including isomerism and mirror-imagery" was the only one that typically required more than one code for identification of cases. The two largest categories were "ventricular septal defects" (52% and "anomalies of the outflow tracts and arterial valves" (20% of cases. Conclusion Our proposed classification is not new, but rather a regrouping of the known spectrum of CHD into a manageable number of categories based on anatomic and clinical criteria. The classification is designed to use the code numbers of the long list of IPCCC but can accommodate ICD-10 codes. Its exhaustiveness, simplicity, and anatomic basis make it useful for clinical and epidemiologic studies, including those aimed at assessment of risk factors and outcomes.

  12. Evaluation of Superselective Transcatheter Arterial Embolization with n-Butyl Cyanoacrylate in Treating Lower Gastrointestinal Bleeding: A Retrospective Study on Seven Cases

    Directory of Open Access Journals (Sweden)

    Yuan Zhao

    2016-01-01

    Full Text Available Background. To investigate the safety and efficacy of superselective transcatheter arterial embolization (TAE with n-butyl cyanoacrylate (NBCA in treating lower gastrointestinal bleeding caused by angiodysplasia. Methods. A retrospective study was performed to evaluate the clinical data of the patients with lower gastrointestinal bleeding caused by angiodysplasia. The patients were treated with superselective TAE with NBCA between September 2013 and March 2015. Angiography was performed after the embolization. The clinical signs including melena, anemia, and blood transfusion treatment were evaluated. The complications including abdominal pain and intestinal ischemia necrosis were recorded. The patients were followed up to evaluate the efficacy in the long run. Results. Seven cases (2 males, 5 females; age of 69.55±2.25 were evaluated in the study. The embolization was successfully performed in all cases. About 0.2–0.8 mL (mean 0.48±0.19 mL NCBA was used. Immediate angiography after the embolization operation showed that the abnormal symptoms disappeared. The patients were followed up for a range of 2–19 months and six patients did not reoccur. No serious complications, such as femoral artery puncture point anomaly, vascular injury, and intestinal necrosis perforation were observed. Conclusion. For the patients with refractory and repeated lower gastrointestinal hemorrhage due to angiodysplasia, superselective TAE with NBCA seem to be a safe and effective alternative therapy when endoscopy examination and treatment do not work.

  13. Evaluation of urinary and gastrointestinal disorders in foals with rhodococcosis and the effect of treatment with azithromycin plus rifampin on these disorders

    Directory of Open Access Journals (Sweden)

    ali hassanpour

    2015-02-01

    Full Text Available This study was conducted for evaluation of urinary and gastrointestinal disorders in foals with Rhodococcosis and the effect of treatment with azithromycin plus rifampin on these disorders. The study was performed on 17 foals with Rhodococcosis (2-5 months old and 18 normal foals as control in horse stablesaroundTabriz area, Iran. Sick foals were detected with clinical and laboratory (culture of nasal discharge findings.  Blood samples C20 ml were collected from the jugular vein in all foals and serum was separated. Sick foals were examined and the clinical function of urinary and gastrointestinal systems were recorded. Kidney function was evaluated with measurement of blood urea nitrogen (BUN, creatinine (Cr, total protein (Pr, sodium (Na and potassium (K in the serum. The gastrointestinal function was evaluated by considering the presence of diarrhea, appetite and gastric ulcer (with endoscopy. Azithromycin plus rifampin was used orally once a day for 2 weeks in foals with Rhodococcosis. Blood Sampling was conducted at the end of treatment and the preview parameters were evaluated. In sick foals, the clinical findings were resolved but soft stool wasstillobserved in 13 cases. Gastric ulcer were higher in the sick group with most of them considered grade II in the nonglandular region of the stomach. BUN, Cr and P increased significantly after treatment in the sick group. Rhodococcosis increased total protein in the serum significantly but was corrected after treatment. In conclusion, both Rhodococcosis and its treatment using azithromycin plusurinaryand gastrointestinaldysfunction.

  14. Evaluation of gastrointestinal injury in blunt abdominal trauma "FAST is not reliable": the role of repeated ultrasonography

    Directory of Open Access Journals (Sweden)

    Mohammadi Afshin

    2012-01-01

    Full Text Available Abstract Background To determine the diagnostic Accuracy of Focused Assessment Sonography for Trauma (FAST and repeated FAST in the patients with blunt abdominal trauma. Methods In this retrospective study we collected the data of all patients from September 2007 to July 2011 with gastrointestinal injury. The intraoperative outcome was compared with FAST technique and the repeated or delayed sonography. Results A total number of 1550 patients with blunt abdominal trauma underwent FAST in a period of 4 years in our hospital. Eighty-eight (5.67% patients were found to have gastrointestinal injury after exploratory laparotomy. Fifty-five (62.5% patients had isolated gastrointestinal injury and 33 (37.5% patients had concomitant injury to the other solid organs. In those with isolated gastrointestinal injury, the sensitivity of FAST was 38.5%. Repeated ultrsonography was performed in 34 patients with false negative initial FAST after 12-24 hours. The sensitivity of repeated ultrasonography in negative initial FAST patients in detection of gastrointestinal injury was 85.2% (95% CI, 68.1%, and 94.4%. Conclusion Repeated sonography after 12 to 24 hours in patients with negative initial FAST but sustain abdominal symptom can facilitated a diagnosis of GI tract injury and can be as effective method instead of Computed tomography in developing country.

  15. Anatomic olfactory structural abnormalities in congenital smell loss: magnetic resonance imaging evaluation of olfactory bulb, groove, sulcal, and hippocampal morphology.

    Science.gov (United States)

    Levy, Lucien M; Degnan, Andrew J; Sethi, Ila; Henkin, Robert I

    2013-01-01

    There are 2 groups of patients with congenital smell loss: group 1 (12% of the total), in which patients exhibit a familial smell loss in conjunction with severe anatomical, somatic, neurological, and metabolic abnormalities such as hypogonadotropic hypogonadism; and a larger group, group 2 (88% of the total), in which patients possess a similar degree of smell loss but without somatic, neurological, or anatomical abnormalities or hypogonadism. Both groups are characterized by similar olfactory dysfunction, and both have been reported to have absent or decreased olfactory bulbs and grooves, which indicates some overlap in olfactory pathophysiology and anatomy. The purpose of this study was to evaluate patients with congenital smell loss, primarily among group 2 patients, comparing brain magnetic resonance imaging (MRI) results in patients with types of hyposmia. Forty group 2 patients were studied by measurements of taste (gustometry) and smell (olfactometry) function and by use of MRI in which measurements of olfactory bulbs, olfactory sulcus depth, olfactory grooves, and hippocampal anatomy were performed. Anatomical results were compared with similar studies in group 1 patients and in 22 control subjects with normal sensory function. Olfactometry was abnormal in all patients with no patient reporting ever having normal olfaction. No patient had a familial history of smell loss. On MRI, all exhibited at least 1 abnormality in olfactory system anatomy, including absence or decreased size of at least 1 olfactory bulb, decreased depth of an olfactory sulcus, and abnormalities involving hippocampal anatomy with hippocampal malrotations. One patient had bilateral bulb duplication. Normal subjects with normal smell and taste function exhibited some but very few or significant neuroanatomical changes on MRI. Although both groups have similar abnormalities of smell function, group 2 patients demonstrate anatomical anomalies in olfactory structures that are neither as

  16. Evaluation of contraceptive methods in women with congenital heart disease in Germany, Hungary and Japan.

    Science.gov (United States)

    Koerten, M-A; Szatmári, A; Niwa, K; Ruzsa, Z; Nagdyman, N; Niggemeyer, E; Peters, B; Schneider, K T M; Kuschel, B; Mizuno, Y; Berger, F; Bauer, U M M; Kaemmerer, H

    2016-03-01

    For women with congenital heart defects (CHD), pregnancy may pose a health risk. Sexually active women with CHD without the desire for own children or for whom pregnancy would imply considerable health risks require adequate counselling regarding appropriate contraception. This study gathers data on the contraceptive behaviour of women with CHD from three different cultural regions. 634 women with CHD from Germany, Hungary and Japan were surveyed regarding contraception and contraceptive methods (CM) used. The patients were divided into groups according to different criteria such as pregnancy associated cardiovascular risk or "safety" of the contraceptive methods used. 59% of the study participants had already gained experience with CM. The average age at the first time of use was 18.4 years; the German patients were significantly younger at the first time of using a CM than those from Hungary and Japan. Overall the condom was the method used the most (38%), followed by oral contraceptives (30%) and coitus interruptus (11%). The range of CM used in Japan was much smaller than that in Germany or Hungary. Unsafe contraceptives were currently, or had previously been used, by 29% of the surveyed patients (Germany: 25%, Hungary: 37%, Japan: 32%). Most women with CHD use CM. There are differences between the participating countries. Adequate contraceptive counselling of women with CHD requires considering the individual characteristics of each patient, including potential contraindications. For choosing an appropriate CM, both the methods' "safety", as well as the maternal cardiovascular risk, are important. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  17. A single-center prospective evaluation of the Ponseti method in nonidiopathic congenital talipes equinovarus.

    Science.gov (United States)

    Moroney, Paul J; Noël, Jacques; Fogarty, Esmond E; Kelly, Paula M

    2012-09-01

    The Ponseti method has revolutionized the management of idiopathic congenital talipes equinovarus (CTEV). However, nonidiopathic CTEV is still often primarily treated by extensive surgical soft tissue release. We believe that nonoperative treatment of these patients using the Ponseti method may give very satisfactory results. We examined the demographics of nonidiopathic CTEV and the success of the Ponseti method in this population over a 5-year period. We treated 29 patients with 43 nonidiopathic and 97 patients with 138 idiopathic CTEV feet. Patients with nonidiopathic CTEV made up 23% of all cases. The commonest etiologies were arthrogryposis (5 cases), trisomy 21 (4 cases), and spina bifida (3 cases). Average follow-up was 39 (nonidiopathic group) and 35 months (idiopathic group). The Ponseti method was initially successful in 91% of nonidiopathic and 98% of idiopathic feet. Recurrence of deformity occurred in 44% of nonidiopathic and 8% of idiopathic feet. Thirty-seven percent of nonidiopathic feet required extensive surgical release compared with 2% in the idiopathic group. Although the success rate of the Ponseti method in nonidiopathic CTEV is inferior to that in idiopathic CTEV, 63% of our nonidiopathic patients did not require extensive surgery. We believe that the Ponseti method should be used in all cases of nonidiopathic CTEV. Level III--prospective cohort study.

  18. Evaluation of Growth Status in Children with Congenital Heart Disease: A Case- Control Study

    Directory of Open Access Journals (Sweden)

    Noor Mohammad Noori

    2017-12-01

    Full Text Available Background: Children with congenital heart disease (CHD are prone to malnutrition and growth retardation. This study aimed to compare growth status between children with CHD and healthy children.                Materials and Methods: This case–control study included 310 children with CHD and 300 healthy children matched in age and gender. CHD patients grouped according to cardiac diagnosis: group 1 (n=5, cyanotic patients with pulmonary hypertension; group 2 (n=22, cyanotic patients without pulmonary hypertension; group 3 (n=43, Acyanotic patients with pulmonary hypertension; and group 4 (n=240, Acyanotic patients without pulmonary hypertension. Anthropometric measurements of weight (Kg, height (cm, and head circumference (cm were measured and recorded for both case and control groups.  Descriptive and analytical statistics were performed using the by SPSS version 21.0. Results: Weight and head circumference were significantly lower in CHD children compared to healthy children (p

  19. Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy

    Science.gov (United States)

    Kang, Peter B.; Morrison, Leslie; Iannaccone, Susan T.; Graham, Robert J.; Bönnemann, Carsten G.; Rutkowski, Anne; Hornyak, Joseph; Wang, Ching H.; North, Kathryn; Oskoui, Maryam; Getchius, Thomas S.D.; Cox, Julie A.; Hagen, Erin E.; Gronseth, Gary; Griggs, Robert C.

    2015-01-01

    Objective: To delineate optimal diagnostic and therapeutic approaches to congenital muscular dystrophy (CMD) through a systematic review and analysis of the currently available literature. Methods: Relevant, peer-reviewed research articles were identified using a literature search of the MEDLINE, EMBASE, and Scopus databases. Diagnostic and therapeutic data from these articles were extracted and analyzed in accordance with the American Academy of Neurology classification of evidence schemes for diagnostic, prognostic, and therapeutic studies. Recommendations were linked to the strength of the evidence, other related literature, and general principles of care. Results: The geographic and ethnic backgrounds, clinical features, brain imaging studies, muscle imaging studies, and muscle biopsies of children with suspected CMD help predict subtype-specific diagnoses. Genetic testing can confirm some subtype-specific diagnoses, but not all causative genes for CMD have been described. Seizures and respiratory complications occur in specific subtypes. There is insufficient evidence to determine the efficacy of various treatment interventions to optimize respiratory, orthopedic, and nutritional outcomes, and more data are needed regarding complications. Recommendations: Multidisciplinary care by experienced teams is important for diagnosing and promoting the health of children with CMD. Accurate assessment of clinical presentations and genetic data will help in identifying the correct subtype-specific diagnosis in many cases. Multiorgan system complications occur frequently; surveillance and prompt interventions are likely to be beneficial for affected children. More research is needed to fill gaps in knowledge regarding this category of muscular dystrophies. PMID:25825463

  20. Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies.

    Science.gov (United States)

    Botto, Lorenzo D; Lin, Angela E; Riehle-Colarusso, Tiffany; Malik, Sadia; Correa, Adolfo

    2007-10-01

    Classification and analysis of congenital heart defects (CHD) in etiologic studies is particularly challenging because of diversity of cardiac phenotypes and underlying developmental mechanisms. We describe an approach to classification for risk assessment of CHD based on developmental and epidemiologic considerations, and apply it to data from the National Birth Defect Prevention Study (NBDPS). The classification system incorporated the three dimensions of cardiac phenotype, cardiac complexity, and extracardiac anomalies. The system was designed to facilitate the assessment of simple isolated defects and common associations. A team with cardiologic expertise applied the system to a large sample from the NBDPS. Of the 4,703 cases of CHDs in the NBDPS with birth years 1997 through 2002, 63.6% were simple, isolated cases. Specific associations of CHDs represented the majority of the remainder. The mapping strategy generated relatively large samples for most cardiac phenotypes and provided enough detail to isolate important subgroups of CHDs that may differ by etiology or mechanism. Classification of CHDs that considers cardiac and extracardiac phenotypes is practically feasible, and yields manageable groups of well-characterized phenotypes. Although best suited for large studies, this approach to classification and analysis can be a flexible and powerful tool in many types of etiologic studies of heart defects.

  1. Longitudinal evaluation of the prevalence of overweight/obesity in children with congenital heart disease.

    Science.gov (United States)

    Tamayo, Catalina; Manlhiot, Cedric; Patterson, Katie; Lalani, Sheliza; McCrindle, Brian W

    2015-02-01

    Regarding long-term cardiovascular health, obesity may have greater implications for children with congenital heart disease (CHD). We sought to determine trends in anthropometry over time and its association with exercise capacity. Medical records of pediatric patients with CHD were randomly sampled. Serial measurements of weight and height were abstracted, body mass index (BMI) was calculated, and measurements were converted to percentiles and z scores. Analyses of trends were performed using regression models adjusted for repeated measures. Median follow-up after diagnosis for 725 patients was 7.1 years (interquartile range, 1.9-12.8 years). The median initial weight z score was -1.1 (fifth/95th percentile, -3.6/+1.1) and increased over time (+0.103 [0.007] standard deviations [SD]/y; P 2 years old; at that age, the median BMI z score was -0.2 (fifth/95th percentile, -2.6/+1.9) and increased over time (+0.042 [0.007] SD/y; P obesity, 28% of patients had at least 1 BMI measurement indicating overweight and 17% indicating obesity. Available exercise test results (n = 153) showed that overweight/obese patients had lower percent predicted maximum oxygen consumption (-16 [2]%; P obesity over time that may increase their cardiovascular risk and impair their exercise capacity. Copyright © 2015 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  2. [Cardiac catheterisation and angiocardiography in evaluation of congenital heart anomalies (author's transl)].

    Science.gov (United States)

    Szelagowicz, B; Orkiszewski, M; Flejsierowicz, Z; Rachocka, J

    1975-01-01

    The material presented here was collected during 18 months since the Pediatric Institute in Poznań was opened. 252 children with congenital heart diseases were admitted to this institution. 152 children were over 12 months, and 100 were under 12 months old; 34 of them were less than 6 months old. 82 children were admitted for cardiac catheterization, angiocardiography or cine-angiocardiography. Below the age of 6 months the condition of the infants, endangering their life, was an indication for cardiac catheterization. In this age group catheterization and especially angiocardiography was not well tolerated by the small patients, but it was necessary to perform ballon septostomy in the transposition of the great arteries, or to establish definite indications for surgery. 5 children of this group died 48 hours after cardiac catheterization. The authors suggest that, in order to obtain better results, infants with cardiac malformations and in a condition endangering their life should be admitted as early as possible to hospitals where diagnostic and surgical services are working on continuous duty. This is not always possible because of technical and personnel difficulties.

  3. Initial application in the EACTS and STS Congenital Heart Surgery Databases of an empirically derived methodology of complexity adjustment to evaluate surgical case mix and results.

    Science.gov (United States)

    Jacobs, Jeffrey Phillip; Jacobs, Marshall Lewis; Maruszewski, Bohdan; Lacour-Gayet, Francois G; Tchervenkov, Christo I; Tobota, Zdzislaw; Stellin, Giovanni; Kurosawa, Hiromi; Murakami, Arata; Gaynor, J William; Pasquali, Sara K; Clarke, David R; Austin, Erle H; Mavroudis, Constantine

    2012-11-01

    Outcomes evaluation is enhanced by assignment of operative procedures to appropriate categories based upon relative average risk. Formal risk modelling is challenging when a large number of operation types exist, including relatively rare procedures. Complexity stratification provides an alternative methodology. We report the initial application in the Congenital Heart Surgery Databases of the Society of Thoracic Surgeons (STS) and the European Association for Cardio-thoracic Surgery (EACTS) of an empirically derived system of complexity adjustment to evaluate surgical case mix and results. Complexity stratification is a method of analysis in which the data are divided into relatively homogeneous groups (called strata). A complexity stratification tool named the STS-EACTS Congenital Heart Surgery Mortality Categories (STAT Mortality Categories) was previously developed based on the analysis of 77,294 operations entered in the Congenital Heart Surgery Databases of EACTS (33,360 operations) and STS (43,934 patients). Procedure-specific mortality rate estimates were calculated using a Bayesian model that adjusted for small denominators. Operations were sorted by increasing risk and grouped into five categories (the STAT Mortality Categories) that were designed to minimize within-category variation and maximize between-category variation. We report here the initial application of this methodology in the EACTS Congenital Heart Surgery Database (47,187 operations performed over 4 years: 2006-09) and the STS Congenital Heart Surgery Database (64,307 operations performed over 4 years: 2006-09). In the STS Congenital Heart Surgery Database, operations classified as STAT Mortality Categories 1-5 were (1): 17332, (2): 20114, (3): 9494, (4): 14525 and (5): 2842. Discharge mortality was (1): 0.54%, (2): 1.6%, (3): 2.4%, (4): 7.5% and (5): 17.8%. In the EACTS Congenital Heart Surgery Database, operations classified as STAT Mortality Categories 1-5 were (1): 19874, (2): 12196, (3

  4. Initial application in the EACTS and STS Congenital Heart Surgery Databases of an empirically derived methodology of complexity adjustment to evaluate surgical case mix and results†

    Science.gov (United States)

    Jacobs, Jeffrey Phillip; Jacobs, Marshall Lewis; Maruszewski, Bohdan; Lacour-Gayet, Francois G.; Tchervenkov, Christo I.; Tobota, Zdzislaw; Stellin, Giovanni; Kurosawa, Hiromi; Murakami, Arata; Gaynor, J. William; Pasquali, Sara K.; Clarke, David R.; Austin, Erle H.; Mavroudis, Constantine

    2012-01-01

    OBJECTIVES Outcomes evaluation is enhanced by assignment of operative procedures to appropriate categories based upon relative average risk. Formal risk modelling is challenging when a large number of operation types exist, including relatively rare procedures. Complexity stratification provides an alternative methodology. We report the initial application in the Congenital Heart Surgery Databases of the Society of Thoracic Surgeons (STS) and the European Association for Cardio-thoracic Surgery (EACTS) of an empirically derived system of complexity adjustment to evaluate surgical case mix and results. METHODS Complexity stratification is a method of analysis in which the data are divided into relatively homogeneous groups (called strata). A complexity stratification tool named the STS–EACTS Congenital Heart Surgery Mortality Categories (STAT Mortality Categories) was previously developed based on the analysis of 77 294 operations entered in the Congenital Heart Surgery Databases of EACTS (33 360 operations) and STS (43 934 patients). Procedure-specific mortality rate estimates were calculated using a Bayesian model that adjusted for small denominators. Operations were sorted by increasing risk and grouped into five categories (the STAT Mortality Categories) that were designed to minimize within-category variation and maximize between-category variation. We report here the initial application of this methodology in the EACTS Congenital Heart Surgery Database (47 187 operations performed over 4 years: 2006–09) and the STS Congenital Heart Surgery Database (64 307 operations performed over 4 years: 2006–09). RESULTS In the STS Congenital Heart Surgery Database, operations classified as STAT Mortality Categories 1–5 were (1): 17332, (2): 20114, (3): 9494, (4): 14525 and (5): 2842. Discharge mortality was (1): 0.54%, (2): 1.6%, (3): 2.4%, (4): 7.5% and (5): 17.8%. In the EACTS Congenital Heart Surgery Database, operations classified as STAT Mortality

  5. Multicenter evaluation of the BioFire FilmArray gastrointestinal panel for etiologic diagnosis of infectious gastroenteritis.

    Science.gov (United States)

    Buss, Sarah N; Leber, Amy; Chapin, Kimberle; Fey, Paul D; Bankowski, Matthew J; Jones, Matthew K; Rogatcheva, Margarita; Kanack, Kristen J; Bourzac, Kevin M

    2015-03-01

    The appropriate treatment and control of infectious gastroenteritis depend on the ability to rapidly detect the wide range of etiologic agents associated with the disease. Clinical laboratories currently utilize an array of different methodologies to test for bacterial, parasitic, and viral causes of gastroenteritis, a strategy that suffers from poor sensitivity, potentially long turnaround times, and complicated ordering practices and workflows. Additionally, there are limited or no testing methods routinely available for most diarrheagenic Escherichia coli strains, astroviruses, and sapoviruses. This study assessed the performance of the FilmArray Gastrointestinal (GI) Panel for the simultaneous detection of 22 different enteric pathogens directly from stool specimens: Campylobacter spp., Clostridium difficile (toxin A/B), Plesiomonas shigelloides, Salmonella spp., Vibrio spp., Vibrio cholerae, Yersinia enterocolitica, enteroaggregative E. coli, enteropathogenic E. coli, enterotoxigenic E. coli, Shiga-like toxin-producing E. coli (stx1 and stx2) (including specific detection of E. coli O157), Shigella spp./enteroinvasive E. coli, Cryptosporidium spp., Cyclospora cayetanensis, Entamoeba histolytica, Giardia lamblia, adenovirus F 40/41, astrovirus, norovirus GI/GII, rotavirus A, and sapovirus. Prospectively collected stool specimens (n = 1,556) were evaluated using the BioFire FilmArray GI Panel and tested with conventional stool culture and molecular methods for comparison. The FilmArray GI Panel sensitivity was 100% for 12/22 targets and ≥94.5% for an additional 7/22 targets. For the remaining three targets, sensitivity could not be calculated due to the low prevalences in this study. The FilmArray GI Panel specificity was ≥97.1% for all panel targets. The FilmArray GI Panel provides a comprehensive, rapid, and streamlined alternative to conventional methods for the etiologic diagnosis of infectious gastroenteritis in the laboratory setting. The potential

  6. Multicenter Evaluation of Octreotide as Secondary Prophylaxis in Patients With Left Ventricular Assist Devices and Gastrointestinal Bleeding.

    Science.gov (United States)

    Shah, Keyur B; Gunda, Sampath; Emani, Sitaramesh; Kanwar, Manreet K; Uriel, Nir; Colombo, Paolo C; Uber, Patricia A; Sears, Melissa L; Chuang, Joyce; Farrar, David J; Brophy, Donald F; Smallfield, George B

    2017-11-01

    Gastrointestinal (GI) bleeding is one of the most common complications after continuous-flow left ventricular assist device implantation. More than one third of patients with incident bleed go on to develop recurrent GI bleeding. Octreotide, a somatostatin analog, is proposed to reduce the risk of recurrent GI bleeding in this population. This multicenter, retrospective analysis evaluated 51 continuous-flow left ventricular assist device patients who received secondary prophylaxis with octreotide after their index GI bleed from 2009 to 2015. All patients had a hospitalization for GI bleed and received octreotide after discharge. Patient demographics, medical and medication history, and clinical characteristics of patients who rebled after receiving octreotide were compared with non-rebleeders. These data were also compared with matched historical control patients previously enrolled in the HMII (HeartMate II) clinical trials, none of whom received octreotide, to provide a context for the bleeding rates. Twelve patients (24%) who received secondary octreotide prophylaxis developed another GI bleed, whereas 39 (76%) did not. There were similar intergroup demographics; however, significantly more bleeders had a previous GI bleeding history before left ventricular assist device placement (33% versus 5%; P=0.02) and greater frequency of angiodysplasia confirmed during endoscopy (58% versus 23%; P=0.03). Fewer patients in this study experienced a recurrent GI bleed compared with a matched historical control group that did not receive octreotide (24% versus 43%; P=0.04). Patients with continuous-flow left ventricular assist device receiving secondary prophylaxis with octreotide had a significantly lower GI bleed recurrence compared with historical controls not treated with octreotide. Additional prospective studies are needed to confirm these data. © 2017 American Heart Association, Inc.

  7. Abnormalities associated with congenital scoliosis: a retrospective study of 226 Chinese surgical cases.

    Science.gov (United States)

    Shen, Jianxiong; Wang, Zijia; Liu, Jiaming; Xue, Xuhong; Qiu, Guixing

    2013-05-01

    Retrospective study of a series of 226 consecutive Chinese patients with congenital scoliosis. To identify the incidence of intraspinal abnormalities and other organ defects in surgical patients with congenital scoliosis in Chinese population. Previous studies have revealed high rates of intraspinal anomalies and other organ defects in patients with congenital scoliosis. The incidence of abnormalities in patients with congenital scoliosis in Chinese population has not been reported. A total of 226 patients with congenital scoliosis underwent surgical treatment in Peking Union Medical College Hospital between January 2005 and March 2011 were identified. A definitive diagnosis of congenital scoliosis for all patients was made. Complete data were reviewed, including medical records, plain radiograph, magnetic resonance (MR) image of the whole spine, echocardiography, and renal ultrasound. The incidence of intraspinal abnormalities and other organ defects were analyzed. Intraspinal abnormalities were found in 99 (43%) patients. Diastematomyelia was identified to be the most common intraspinal pathological anomaly, which was different from the previous reports. The incidence of intraspinal anomaly in patients with failures of segmentation and mixed defects were significantly higher than those with failures of formation. Patients with thoracic hemivertebrae were found to have a higher incidence of intraspinal abnormalities than patients with lumbar hemivertebrae. Patients with intraspinal abnormality had a higher incidence of positive clinical findings than those with normal magnetic resonance imaging. However, the difference between the 2 groups was not statistically significant. Other organic defects were found in 91(40%) patients. Cardiac defects were detected in 18%, urogenital anomalies in 12%, and gastrointestinal anomalies in 5% of the patients in this study. Diastematomyelia was found to be the most common intraspinal pathological anomaly and cardiac defects were

  8. [The effect of the severity of congenital pectus excavatum on the cardiac morphology in children: evaluation with multislice helical CT].

    Science.gov (United States)

    Lu, Tao; Deng, Kaihong

    2013-12-01

    This paper is aimed to evaluate the CT manifestation of congenital pectus excavatum and its effect on the cardiac morphology. CT features of 34 children with pectus excavatum were retrospectively reviewed. The Haller index (HI), CT depression index (CTDI), cardiac rotation angle (CRA), pulmonary vein angle (PVA), cardiac compression index (CCI) and cardiac asymmetry index (CAI) were measured from the images on the PACS system. The relationships among these indexes were evaluated. The HI was 4.12 +/- 1.48, the CTDI was 2.39+/- 0.70, CRA was (53.52 +/- 7.68) degrees, PVA was (66.51 +/- 11.02) degrees, CCI was 2.43 +/- 0.95, and CAI was 1.55 +/- 0.56. There was statistical significance of CCI and CAI between children with severe or slight pectus excavatum. The HI and CTDI were positively related with CCI and CAI respectively, whereas there was no statistical significance of CRA and PVA between children with severe or slight pectus excavatum. There was no statistical significance of HI, CTDI, CRA, PVA, CCI and CAI among different age groups. The morphological change of the heart compressed in children with pectus excavatum can be accurately evaluated by multislice helical CT.

  9. Evaluation of Brain Natriuretic Peptide plasma levels in children with Congenital Heart Diseases

    Directory of Open Access Journals (Sweden)

    Noor Mohammad Noori

    2016-10-01

    Full Text Available ObjectiveThis study aimed to assess Brain Natriuretic Peptide in early diagnose of cardiac function in children with Congenital Heart Diseases.MethodologyThis study was performed on children with CHD and healthy. Severity of heart failure modified Ross classification system was used for grouping patients in four classes. For all participants, height, weight and head circumference were measured. From participants 3 cc blood samples was taken and after separation, the plasma placed at temperature of -80 c. After collecting all samples they were in testing using an ELISA BNP kit. For 50 children in control group statistical methods used to generate RV and PA pressure randomly. The data were analyzed using SPSS for Windows, Version, 15.0 (Chicago,SPSS Inc. USA with 0.05 for the level of significant. ResultsBNP, RV pressure, PA pressure, HB and O2 saturation had different means in cyanotic, Acyanotic and and control significantly. BNP, RV, PA , HB and O2Sat had different means in case and control significantly. , RV, HB and O2 saturation had different means significantly acordance with the sevirity of disease.BNP had correlation with PA and PA had correlation with Qp/Qs ratio ,Rp/Rs ratio , RV and O2Sat significantly .ConclusionAt the end from the results of the study concluded that BNP levels in children with chd increased. in patients with pulmonary hypertension , with increasing the level of pulmonary hypertension the BNP will increase. BNP increasing had high association with the severity of heart failure.

  10. Preclinical evaluation of KIT/PDGFRA and mTOR inhibitors in gastrointestinal stromal tumors using small animal FDG PET

    Directory of Open Access Journals (Sweden)

    Fanti Stefano

    2010-12-01

    Full Text Available Abstract Background Primary and secondary drug resistance to imatinib and sunitinib in patients with gastrointestinal stromal tumors (GISTs has led to a pressing need for new therapeutic strategies such as drug combinations. Most GISTs are caused by mutations in the KIT receptor, leading to upregulated KIT tyrosine kinase activity. Imatinib and nilotinib directly inhibit the kinase activity of KIT, while RAD001 (everolimus inhibits mTOR. We report a preclinical study on drug combinations in a xenograft model of GIST in which effects on tumor dimensions and metabolic activity were assessed by small animal PET imaging. Methods Rag2-/-; γcommon -/- male mice were injected s.c. into the right leg with GIST 882. The animals were randomized into 6 groups of 6 animals each for different treatment regimens: No therapy (control, imatinib (150 mg/kg b.i.d. by oral gavage for 6 days, then once/day for another 7 days, everolimus (10 mg/kg/d. by oral gavage, everolimus (10 mg/kg/d. + imatinib (150 mg/kg b.i.d. by oral gavage for 6 days, then once/day for another 7 days, nilotinib (75 mg/kg/d. by oral gavage, nilotinib (75 mg/kg/d. + imatinib (150 mg/kg b.i.d by oral gavage for 6 days, then once/day for another 7 days. Tumor growth control was evaluated by measuring tumor volume (cm3. Small animal PET (GE Explore tomography was used to evaluate tumor metabolism and performed in one animal per group at base-line then after 4 and 13 days of treatment. Results After a median latency time of 31 days, tumors grew in all animals (volume 0,06-0,15 cm3 and the treatments began at day 38 after cell injection. Tumor volume control (cm3 after 13 days of treatment was > 0.5 for imatinib alone and nilotinib alone, and Conclusions As single agents, all drugs showed an anti-tumor effect in GIST xenografts but everolimus was superior. The everolimus plus imatinib combination appeared to be the most active regimen both in terms of inhibiting tumor growth and tumor metabolism

  11. The Sonoma Water Evaluation Trial (SWET): A randomized drinking water intervention trial to reduce gastrointestinal illness in older adults

    Science.gov (United States)

    Objectives. We estimate the risk of highly credible gastrointestinal illness (HCGI) among adults 55 and older in a community drinking tap water meeting current U.S. standards. Methods. We conducted a randomized, triple-blinded, crossover trial in 714 households (988 indiv...

  12. Protection of bone marrow and gastrointestinal tract used as a criterion for comparative evaluation of effectiveness of different radioprotective agents

    Energy Technology Data Exchange (ETDEWEB)

    Pyatovskaya, N.N.; Brumberg, I.E. (Voenno-Meditsinskaya Akademiya, Leningrad (USSR))

    It has been shown on mice that unlike cystamine, 4-aminobenzo- 2,1,3-thiadiazol exerts a radioprotective effect on the haemopoietic tissue and fails to protect the gastrointestinal tract. In the bone marrow, this preparation is only effective in relation to stem cells.

  13. Evaluation of point-of-care test calprotectin and lactoferrin for inflammatory bowel disease among children with chronic gastrointestinal symptoms

    NARCIS (Netherlands)

    Holtman, Gea A; Lisman-van Leeuwen, Yvonne; van Rheenen, Patrick F; Kollen, Boudewijn J; Escher, Johanna C; Kindermann, Angelika; de Rijke, Yolanda B; Berger, Marjolein Y

    Background. Faecal calprotectin is considered to be a valid test for ruling out inflammatory bowel disease (IBD) in children with chronic gastrointestinal symptoms in specialist care. In contrast, faecal lactoferrin has higher specificity. The recent availability of both as point-of-care tests

  14. Evaluation of point-of-care test calprotectin and lactoferrin for inflammatory bowel disease among children with chronic gastrointestinal symptoms

    NARCIS (Netherlands)

    Holtman, Gea A.; Lisman-van Leeuwen, Yvonne; van Rheenen, Patrick F.; Kollen, Boudewijn J.; Escher, Johanna C.; Kindermann, Angelika; de Rijke, Yolanda B.; Berger, Marjolein Y.

    2017-01-01

    Background. Faecal calprotectin is considered to be a valid test for ruling out inflammatory bowel disease (IBD) in children with chronic gastrointestinal symptoms in specialist care. In contrast, faecal lactoferrin has higher specificity. The recent availability of both as point-of-care tests

  15. Evaluation of the General Practice Research Database congenital heart defects prevalence: comparison to United Kingdom national systems.

    Science.gov (United States)

    Wurst, Keele E; Ephross, Sara A; Loehr, James; Clark, Douglas W; Guess, Harry A

    2007-04-01

    As part of an effort to validate the General Practice Research Database (GPRD) for future studies of medication use in pregnancy, this study examined whether the rates of all, and specific types of, congenital heart defects obtained from the GPRD are similar to those obtained from UK national systems. The prevalence rates of heart defects for 2001-2003 were determined from the GPRD and compared with both the National Congenital Anomaly System (NCAS) and the European Concerted Action of Congenital Anomalies and Twins (EUROCAT). Rate ratios (RRs) and 95% CIs were calculated comparing the prevalence of all congenital heart defects as well as specific types of heart defects in the three data sources. In addition, the effect of the child's age on the frequency of heart defects in the GPRD was determined. The prevalence of heart defects in the GPRD was more than twice as high as in the NCAS and slightly higher than in the EUROCAT. All differences were statistically significant. The prevalence of specific heart defects varied across the GPRD, NCAS, and EUROCAT. The measured prevalence of congenital heart defects in the GPRD was higher if calculated including children up to age 6. The comparisons of the GPRD prevalence rates to national prevalence estimates demonstrate that the GPRD can serve as a more complete source of background prevalence for the most commonly occurring congenital heart defects, which is essential to properly assess possible associations between maternal exposures and congenital heart defects.

  16. The evaluation of developmental enamel defects and dental treatment conditions in a group of Turkish children with congenital heart disease.

    Science.gov (United States)

    Cantekin, Kenan; Gumus, Husniye; Torun, Yasemin A; Sahin, Hakan

    2015-02-01

    The aim of this study was to determine developmental enamel defects and dental treatment conditions in children with congenital heart disease by comparing them with a control group of healthy children. Children included in the study were referred to a paediatric dentistry for dental examination and treatment after undergoing routine examination in a paediatric clinic. The congenital heart disease group included 72 children and the control group included 56 healthy children. Children in the age group of 3-14 years were included in this study. The mean age of the congenital heart disease group and control group was 6.24±2.85 and 6.73±3.01, respectively. The mean values of the decayed, missing, and filled indices for primary and permanent teeth in the congenital heart disease group were 2.80±3.77 and 0.81±1.63, respectively. In the control group, the values were 1.87±3.31 and 0.72±1.46, respectively. The care score for primary teeth was 3.6% in the congenital heart disease group and 13.3% in the control group. The enamel defect was detected in at least one permanent tooth in seven out of 72 children (9.7%) in the congenital heart disease group and in three out of 56 children (5.3%) in the control group. Although there was no significant difference in the development of dental caries or the prevalence of enamel defects between children with congenital heart disease and healthy children, the care score was low in children with congenital heart disease. In addition, children with congenital heart disease had a higher rate of pulled primary teeth and delayed treatment of decayed teeth.

  17. Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association.

    Science.gov (United States)

    Marino, Bradley S; Lipkin, Paul H; Newburger, Jane W; Peacock, Georgina; Gerdes, Marsha; Gaynor, J William; Mussatto, Kathleen A; Uzark, Karen; Goldberg, Caren S; Johnson, Walter H; Li, Jennifer; Smith, Sabrina E; Bellinger, David C; Mahle, William T

    2012-08-28

    The goal of this statement was to review the available literature on surveillance, screening, evaluation, and management strategies and put forward a scientific statement that would comprehensively review the literature and create recommendations to optimize neurodevelopmental outcome in the pediatric congenital heart disease (CHD) population. A writing group appointed by the American Heart Association and American Academy of Pediatrics reviewed the available literature addressing developmental disorder and disability and developmental delay in the CHD population, with specific attention given to surveillance, screening, evaluation, and management strategies. MEDLINE and Google Scholar database searches from 1966 to 2011 were performed for English-language articles cross-referencing CHD with pertinent search terms. The reference lists of identified articles were also searched. The American College of Cardiology/American Heart Association classification of recommendations and levels of evidence for practice guidelines were used. A management algorithm was devised that stratified children with CHD on the basis of established risk factors. For those deemed to be at high risk for developmental disorder or disabilities or for developmental delay, formal, periodic developmental and medical evaluations are recommended. A CHD algorithm for surveillance, screening, evaluation, reevaluation, and management of developmental disorder or disability has been constructed to serve as a supplement to the 2006 American Academy of Pediatrics statement on developmental surveillance and screening. The proposed algorithm is designed to be carried out within the context of the medical home. This scientific statement is meant for medical providers within the medical home who care for patients with CHD. Children with CHD are at increased risk of developmental disorder or disabilities or developmental delay. Periodic developmental surveillance, screening, evaluation, and reevaluation

  18. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    . The study evaluated the assessment procedure of 190 children and adults found to be congenitally deafblind. Among the 190 individuals 76 percent were determined using functional assessment in addition to medical examination. A case example involving a 12-year-old child is also presented to illustrate...... the complexity in identifying congenital deafblindness. It is concluded that determining deafblindness should not be limited to medical procedures (vision and hearing tests) alone, but may also involve a lengthy process to assess the level of sense functioning the individual possesses....

  19. Lower gastrointestinal endoscopies results

    Directory of Open Access Journals (Sweden)

    Ahmet Bozdağ

    2014-12-01

    Full Text Available Objectives: Endoscopic examinations have great potential in early diagnosis of colorectal adenomas and carcinomas with reducing to colorectal cancer incidence and mortality. We aimed to evaluate for diagnostic purposeful lower gastrointestinal endoscopic procedures in the second step state hospital retrospectively Methods: Between June 2010 and June 2013, we evaluated 278 patients with rectal bleeding, constipation and abdominal pain detected by lower gastrointestinal endoscopic procedures retrospectively. Results: The mean age of the patients was 54.8 ± 16.8 (15-90 year, respectively. 172 (61.9% of the patients were male and 106 (38.1% of the patients were female. 116 (41.7% of the patients was performed rectosigmoidoscopy and 162 (58.3% of the patients was performed colonoscopy. 51(18.3% of our patients were normal. 10 (3.6% of patients had colorectal cancer, 11(3.9% of patients had inflammatory bowel disease, 8 (2.9% of patients had parasitosis, 31(11.1% of patients had colorectal polyps, 12 (4.3% , in patients had diverticular disease, 2 (0.7% patients had rectal ulcer, 25 (9% patients had anal fissure and 159 (57.2% of the patients had hemorrhoidal disease. Conclusion: Lower gastrointestinal endoscopy is a method been the gold standard with a low complication rate and that can be easily applied in the evaluation to pathology of colorectal and anal canal. J Clin Exp Invest 2014; 5 (4: 580-582

  20. Congenital Scoliosis.

    Science.gov (United States)

    Moramarco, M; Weiss, H R

    2015-11-17

    Congenital scoliosis is a lateral deformity of the spine with a disturbance of the sagittal profile caused by malformations of vertebra and ribs. Typically, early surgical intervention is the suggested treatment (before three-years-old) for young patients with congenital scoliosis. While a previous study was conducted in 2011 to investigate long-term studies supporting the necessity for this recommendation and no evidence was found , this current review, is an updated search for evidence published from 2011 through March 2015. This also failed to find any prospective or randomized controlled studies to support the hypothesis that spinal fusion surgery in patients with congenital scoliosis should be considered as evidence-based treatment. Contradictory results exist on the safety of hemivertebra resection and segmental fusion using pedicle screw fixation. When using the VEPTR (vertical expandable prosthetic titanium rib) device, studies show a high rate of complications exist. It is difficult to predict the final outcome for patients with congenital scoliosis. However, it is possible that many patients with congenital scoliosis may be able to avoid spinal surgery with the application of advanced bracing technology [5]. Therefore, it is only prudent to advocate for conservative management first before spinal surgery is considered.

  1. Evaluation of different protections of butyric acid aiming for release in the last part of the gastrointestinal tract of piglets.

    Science.gov (United States)

    Mallo, J J; Balfagón, A; Gracia, M I; Honrubia, P; Puyalto, M

    2012-12-01

    Three tests, 2 in vivo and 1 in vitro, were conducted to compare how 2 forms of protection of butyric acid (BA) affect its liberation along the gastrointestinal tract (GIT) of piglets. The 2 forms of BA were vegetable fat-encapsulated sodium butyrate (SBE) and monoglyceride of butyric acid (MB). In the first trial, 528 piglets were weaned at 21 d of age and assigned to 3 diets in 8 replicate pens of 22 piglets per pen for 39 d. The 3 diets were (i) prestarter and starters I and II (Con), (ii) C + SBE (6 kg/t in both prestarter and starter feeds), and (iii) C + MB (2.5 kg/t in the prestarter feed, 2 kg/t in the starter feed I, and 0 kg/t in the starter feed II). Piglets receiving C and SBE feeds tended to show higher BW (18.74, 18.66, and 17.82 kg; P piglets; no significant differences were observed in feed intake or FCR. In the second trial, 8 pens of 4 piglets each (4 pens per treatment), weaned at 21 d, were given either a standard postweaning program with SBE (2 kg/t) or with MB (2 kg/t) and received the same amount of BA. Body weight, feed intake, and FCR were evaluated at days 14 and 28 of trial. At the end of the trial, 1 animal per pen was euthanized and the concentration of BA and VFA in duodenum, jejunum, ileum, colon, and cecum were quantified with HPLC. There were no statistical differences in growth, feed intake, or FCR. However, SBE-fed animals had higher concentration of VFA in colon than MB-fed animals. There were relevant numerical differences in the rest of the GIT sections but they were not statistically significant. The in vitro digestion of the products confirmed that BA can be released more easily from SBE (157.2 g of BA/kg of product after 7 h) than from MB (56.4 g of BA/kg of product after 7 h). It is concluded that the addition of SBE allows more BA to reach the distal sections of the GIT than MB.

  2. Coronary artery problems and disease in adults with congenital heart disease: how to evaluate, how to prevent, how to treat.

    Science.gov (United States)

    Cataldo, S; Stuart, A G

    2014-10-01

    There are a wide variety of coronary artery anomalies and disease in adults with congenital heart disease (CHD). In fact, the increasing burden of acquired coronary artery disease (CAD) has to be considered in addition to congenital abnormalities of the coronary arteries, isolated or associated to other congenital diseases. This is largely a consequence of the increasing number of patients reaching older age. Due to complex underlying cardiac anatomy, previous surgery and comorbidities, treatment can be challenging. Individualized and multidisciplinary management involving congenital heart cardiologists, cardiac surgeons, coronary interventionists and imaging specialists is essential. This review gives an overview of coronary artery involvement in adults with CHD, summarizes the current literature and focuses on prevention, diagnosis and treatment. The potential role of cardiovascular risk factors for CAD is also discussed.

  3. Congenital toxoplasmosis: evaluation of serological methods for the detection of anti-Toxoplasma gondii IgM and IgA antibodies

    Directory of Open Access Journals (Sweden)

    IMX Rodrigues

    2009-05-01

    Full Text Available A study was carried out to evaluate the presence of serological markers for the immunodiagnosis of the vertical transmission of toxoplasmosis. We tested the sensitivity, specificity and predictive values (positive and negative of different serological methods for the early diagnosis of congenital toxoplasmosis. In a prospective longitudinal study, 50 infants with suspected congenital toxoplasmosis were followed up in the ambulatory care centre of Congenital Infections at University Hospital in Goiânia, Goiás, Brazil, from 1 January 2004-30 September 2005. Microparticle Enzyme Immunoassay (MEIA, Enzyme-Linked Fluorescent Assay (ELFA and Immune-Fluorescent Antibody Technique (IFAT were used to detect specific IgM anti-Toxoplasma gondii antibodies and a capture ELISA was used to detect specific IgA antibodies. The results showed that 28/50 infants were infected. During the neonatal period, IgM was detected in 39.3% (11/28 of those infected infants and IgA was detected in 21.4% (6/28. The sensitivity, specificity and predictive values (positive and negative of each assay were, respectively: MEIA and ELFA: 60.9%, 100%, 100%, 55.0%; IFAT: 59.6%, 91.7%, 93.3%, 53.7%; IgA capture ELISA: 57.1%, 100%, 100%, 51.2%. The presence of specific IgM and IgA antibodies during the neonatal period was not frequent, although it was correlated with the most severe cases of congenital transmission. The results indicate that the absence of congenital disease markers (IgM and IgA in newborns, even after confirming the absence with several techniques, does not constitute an exclusion criterion for toxoplasmosis.

  4. Congenital toxoplasmosis: evaluation of serological methods for the detection of anti-Toxoplasma gondii IgM and IgA antibodies.

    Science.gov (United States)

    Rodrigues, I M X; Castro, A M; Gomes, M B F; Amaral, W N; Avelino, M M

    2009-05-01

    A study was carried out to evaluate the presence of serological markers for the immunodiagnosis of the vertical transmission of toxoplasmosis. We tested the sensitivity, specificity and predictive values (positive and negative) of different serological methods for the early diagnosis of congenital toxoplasmosis. In a prospective longitudinal study, 50 infants with suspected congenital toxoplasmosis were followed up in the ambulatory care centre of Congenital Infections at University Hospital in Goiânia, Goiás, Brazil, from 1 January 2004-30 September 2005. Microparticle Enzyme Immunoassay (MEIA), Enzyme-Linked Fluorescent Assay (ELFA) and Immune-Fluorescent Antibody Technique (IFAT) were used to detect specific IgM anti-Toxoplasma gondii antibodies and a capture ELISA was used to detect specific IgA antibodies. The results showed that 28/50 infants were infected. During the neonatal period, IgM was detected in 39.3% (11/28) of those infected infants and IgA was detected in 21.4% (6/28). The sensitivity, specificity and predictive values (positive and negative) of each assay were, respectively: MEIA and ELFA: 60.9%, 100%, 100%, 55.0%; IFAT: 59.6%, 91.7%, 93.3%, 53.7%; IgA capture ELISA: 57.1%, 100%, 100%, 51.2%. The presence of specific IgM and IgA antibodies during the neonatal period was not frequent, although it was correlated with the most severe cases of congenital transmission. The results indicate that the absence of congenital disease markers (IgM and IgA) in newborns, even after confirming the absence with several techniques, does not constitute an exclusion criterion for toxoplasmosis.

  5. THERAPEUTIC EFFICACY OF PROBIOTICS AND SHORT CHAIN FATTY ACIDS IN GASTROINTESTINAL DISEASE: EVALUATION OF METABOLIC, HORMONAL AND INFLAMMATORY PARAMETERS

    OpenAIRE

    Simeoli, Raffaele

    2014-01-01

    In these three years we studied probiotics and postbiotics efficacy and their mechanism/s in preventing or limiting gastrointestinal diseases, such as hepatic steatosis and ulcerative colitis. On the basis of strength anatomical correlation between liver and gut, we wanted to observe if microorganisms present in gut and their postbiotic derivatives, the short chain fatty acids, were able to prevent or cure not only local intestinal disease but also to limit extraintestinal and systemic pathol...

  6. Gastrointestinal Motility Disorders in Children

    Science.gov (United States)

    Ambartsumyan, Lusine

    2014-01-01

    The most common and challenging gastrointestinal motility disorders in children include gastroesophageal reflux disease (GERD), esophageal achalasia, gastroparesis, chronic intestinal pseudo-obstruction, and constipation. GERD is the most common gastrointestinal motility disorder affecting children and is diagnosed clinically and treated primarily with acid secretion blockade. Esophageal achalasia, a less common disorder in the pediatric patient population, is characterized by dysphagia and treated with pneumatic balloon dilation and/or esophagomyotomy. Gastroparesis and chronic intestinal pseudo-obstruction are poorly characterized in children and are associated with significant morbidity. Constipation is among the most common complaints in children and is associated with significant morbidity as well as poor quality of life. Data on epidemiology and outcomes, clinical trials, and evaluation of new diagnostic techniques are needed to better diagnose and treat gastrointestinal motility disorders in children. We present a review of the conditions and challenges related to these common gastrointestinal motility disorders in children. PMID:24799835

  7. Ultrasound Evaluation of Congenital Cervical Teratoma and Therapeutic Management (Ex Utero Intrapartum Treatment

    Directory of Open Access Journals (Sweden)

    Pablo Padilla Iserte

    2012-01-01

    Full Text Available The ultrasound evaluation of the fetal neck has a high importance as a key point of the airway and digestive tract. We report the case of a fetus diagnosed with a cervical teratoma by ultrasound, which generated a compressive effect on airway, requiring a surgical approach EXIT (ex utero intrapartum treatment to ensure the extrauterine viability.

  8. Evaluation of Neonatal Lung Volume Growth by Pulmonary Magnetic Resonance Imaging in Patients with Congenital Diaphragmatic Hernia.

    Science.gov (United States)

    Schopper, Melissa A; Walkup, Laura L; Tkach, Jean A; Higano, Nara S; Lim, Foong Yen; Haberman, Beth; Woods, Jason C; Kingma, Paul S

    2017-09-01

    To evaluate postnatal lung volume in infants with congenital diaphragmatic hernia (CDH) and determine if a compensatory increase in lung volume occurs during the postnatal period. Using a novel pulmonary magnetic resonance imaging method for imaging neonatal lungs, the postnatal lung volumes in infants with CDH were determined and compared with prenatal lung volumes obtained via late gestation magnetic resonance imaging. Infants with left-sided CDH (2 mild, 9 moderate, and 1 severe) were evaluated. The total lung volume increased in all infants, with the contralateral lung increasing faster than the ipsilateral lung (mean ± SD: 4.9 ± 3.0 mL/week vs 3.4 ± 2.1 mL/week, P = .005). In contrast to prenatal studies, the volume of lungs of infants with more severe CDH grew faster than the lungs of infants with more mild CDH (Spearman's ρ=-0.086, P = .01). Although the contralateral lung volume grew faster in both mild and moderate groups, the majority of total lung volume growth in moderate CDH came from increased volume of the ipsilateral lung (42% of total lung volume increase in the moderate group vs 32% of total lung volume increase in the mild group, P = .09). Analysis of multiple clinical variables suggests that increased weight gain was associated with increased compensatory ipsilateral lung volume growth (ρ = 0.57, P = .05). These results suggest a potential for postnatal catch-up growth in infants with pulmonary hypoplasia and suggest that weight gain may increase the volume growth of the more severely affected lung. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. Congenital hemangioma.

    Science.gov (United States)

    Amouri, Meriem; Mesrati, Hela; Chaaben, Hend; Masmoudi, Abderrahmen; Mseddi, Madiha; Turki, Hamida

    2017-01-01

    Congenital hemangiomas (CHs) are fully developed hemangiomas that are present at birth. There are 2 possible types: rapidly involuting CHs (RICHs) and noninvoluting CHs (NICHs). We conducted a retrospective study (2008-2012) of 6 patients (2 females, 4 males) with CHs (mean age, 16 days). We analyzed the epidemiology, clinical characteristics, and clinical outcome of CHs over this 5-year period.

  10. Congenital Defects.

    Science.gov (United States)

    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…

  11. Congenital amusias.

    Science.gov (United States)

    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." © 2015 Elsevier B.V. All rights reserved.

  12. Evaluation of a tissue-engineered bovine pericardial patch in paediatric patients with congenital cardiac anomalies: initial experience with the ADAPT-treated CardioCel® patch

    Science.gov (United States)

    Neethling, William M.L.; Strange, Geoff; Firth, Laura; Smit, Francis E.

    2013-01-01

    OBJECTIVES This study evaluated the safety, efficacy and clinical performance of the tissue-engineered ADAPT® bovine pericardial patch (ABPP) in paediatric patients with a range of congenital cardiac anomalies. METHODS In this single-centre, prospective, non-randomized clinical study, paediatric patients underwent surgery for insertion of the ABPP. Primary efficacy measures included early (8) were significantly more likely to die (P = 0.0055, 58% survival compared with 100% survival for less complex surgical repairs). In 19 patients, echocardiographic data were available at 18–36 months with no evidence of device calcification, infection, thromboembolic events or device failure. CONCLUSIONS This study demonstrates the safety and efficacy of this engineered bovine pericardial patch as a cardiovascular substitute for surgical repair of both simple and more complex congenital cardiac defects. PMID:23832918

  13. Evaluation of a tissue-engineered bovine pericardial patch in paediatric patients with congenital cardiac anomalies: initial experience with the ADAPT-treated CardioCel(R) patch.

    Science.gov (United States)

    Neethling, William M L; Strange, Geoff; Firth, Laura; Smit, Francis E

    2013-10-01

    This study evaluated the safety, efficacy and clinical performance of the tissue-engineered ADAPT® bovine pericardial patch (ABPP) in paediatric patients with a range of congenital cardiac anomalies. In this single-centre, prospective, non-randomized clinical study, paediatric patients underwent surgery for insertion of the ABPP. Primary efficacy measures included early (8) were significantly more likely to die (P = 0.0055, 58% survival compared with 100% survival for less complex surgical repairs). In 19 patients, echocardiographic data were available at 18-36 months with no evidence of device calcification, infection, thromboembolic events or device failure. This study demonstrates the safety and efficacy of this engineered bovine pericardial patch as a cardiovascular substitute for surgical repair of both simple and more complex congenital cardiac defects.

  14. Evaluation of gastrointestinal tract transit times using barium-impregnated polyethylene spheres and barium sulfate suspension in a domestic pigeon (Columba livia) model.

    Science.gov (United States)

    Bloch, Rebecca A; Cronin, Kimberly; Hoover, John P; Pechman, Robert D; Payton, Mark E

    2010-03-01

    Barium impregnated polyethylene spheres (BIPS) are used in small animal medicine as an alternative to barium sulfate for radiographic studies of the gastrointestinal tract. To determine the usefulness of BIPS as an alternative to barium suspension in measuring gastrointestinal (GI) transit time for avian species, ventrodorsal radiographs were used to follow the passage of BIPS and 30% barium sulfate suspension through the GI tracts of domestic pigeons (Columba livia). Gastrointestinal transit times of thirty 1.5-mm BIPS administered in moistened gelatin capsules and 30% barium sulfate suspension gavaged into the crop were compared in 6 pigeons. Although the barium suspension passed out of the GI tract of all pigeons within 24 hours, the 1.5-mm BIPS remained in the ventriculus for 368.0 +/- 176.8 hours and did not clear the GI tract for 424.0 +/- 204.6 hours. Although the times for passage of BIPS and 30% barium sulfate suspension from the crop into the ventriculus were not significantly different (P = .14), the times for passage of BIPS from the ventriculus into the large intestine-cloaca and for clearance from the GI tract of the pigeons were significantly longer (P barium sulfate suspension. From the results of this study, we conclude that BIPS are not useful for radiographically evaluating GI transit times in pigeons and are unlikely to be useful in other avian species that have a muscular ventriculus. BIPS may or may not be useful for evaluating GI transit times in species that lack a muscular ventriculus.

  15. Do We Need More Than a Transthoracic Echocardiography When Evaluating Children with Congenital Heart Disease before Cardiac Surgery?

    Science.gov (United States)

    Alghamdi, Mohammed H; Ismail, Muna I; Yelbuz, Talat Mesud; Alhabshan, Fahad

    2016-05-01

    To determine if a transthoracic echocardiography (TTE) can be used as the sole diagnostic imaging modality to evaluate children with congenital heart disease (CHD) undergoing cardiac surgery. A retrospective study was carried out at the King Abdulaziz Cardiac Center. We reviewed all pediatric patients who underwent cardiac surgery during the period January 2011 to December 2011. Three hundred ninety-two pediatric patients with CHD fulfilled the inclusion criteria. Of these patients, 287 (73%) underwent surgical interventions based on a TTE alone, while 105 (27%) required additional diagnostic imaging modalities, including a cardiac catheterization (68/105; 65%), cardiac computed tomography angiography (36/105; 34%), or cardiac magnetic resonance imaging (1/105; 1%). A TTE was not enough for all the patients who underwent a cardiac catheterization to find out additional anatomical information (22%), either to directly measure pulmonary artery pressures (62%) or to study vascular reactivity in patients with pulmonary hypertension (16%). Of 36 patients who underwent a cardiac computed tomography angiography, five (14%) had additional information to be added to TTE findings. Of all the patients, 81% had enough information using only the TTE compared to 19% in whom the TTE was not enough to provide all needed information. Only (7/392; 1.8%) patients had additional minor intraoperative findings that did not affect the surgical decision. Despite the emergence of other imaging modalities, a TTE can be used as the sole diagnostic imaging modality for a preoperative assessment in the majority of children with CHD. Other imaging modalities can be employed with limited indications. © 2015 Wiley Periodicals, Inc.

  16. Newborn Congenital Cytomegalovirus Screening Based on Clinical Manifestations and Evaluation of DNA-based Assays for In Vitro Diagnostics.

    Science.gov (United States)

    Fujii, Tomoyuki; Oka, Akira; Morioka, Ichiro; Moriuchi, Hiroyuki; Koyano, Shin; Yamada, Hideto; Saito, Shigeru; Sameshima, Hiroshi; Nagamatsu, Takeshi; Tsuchida, Shinya; Inoue, Naoki

    2017-10-01

    To establish a strategy for congenital cytomegalovirus (cCMV) screening and to establish confirmatory assays approved as in vitro diagnostics by the regulatory authorities, we evaluated the clinical risks and performance of diagnostic assays developed by commercial companies, since cCMV infection has significant clinical consequences. Newborns with clinical manifestations considered to be consequences of cCMV infection (n = 575) were screened for the presence of cytomegalovirus (CMV) DNA in urine specimens collected onto filter paper placed in their diapers using the polymerase chain reaction-based assay reported previously. Liquid urine specimens were obtained from all of 20 CMV-positive newborns and 107 of the CMV-negative newborns identified in the screening. We used these 127 specimens, as well as 12 from cCMV cases identified in a previous study and 41 from healthy newborns, to compare the performance of 2 commercial assays and 1 in-house assay. The risk-based screening allowed the identification of cCMV cases at least 10-fold more efficiently than our previous universal screening, although there appears to be a limit to the identification of asymptomatically infected newborns. Although CMV-specific IgM during pregnancy was found frequently in mothers of cCMV newborns, CMV-IgM alone is not an effective diagnostic marker. The urine-filter-based assay and the 3 diagnostic assays yielded identical results. Although risk-based and universal newborn screening strategies for cCMV infection each have their respective advantages and disadvantages, urine-filter-based assay followed by confirmatory in vitro diagnostics assays is able to identify cCMV cases efficiently.

  17. Foreign bodies in gastrointestinal tract

    Directory of Open Access Journals (Sweden)

    Ayşe Kefeli

    2014-03-01

    Full Text Available Objective: Ingested foreign bodies in gastrointestinal tract are a common event which can cause serious morbidity and mortality in the children and adult population. For this reason, early diagnosis and treatment are crucial for preventing these life threatening complications. In this study, we aimed to analyze the characteristics of the patients with upper gastrointestinal foreign bodies that were treated in our department. Methods: Patients diagnosed with upper gastrointestinal foreign bodies who were admitted to our hospital between February 2010 and August2013 were evaluated retrospectively. The data regarding their age, gender, clinical profile, type and localization of the esophageal foreign body, performed endoscopic procedure and initial symptoms of the patients were noted and analyzed statistically. Results: Thirty-eight patients with a diagnosis of gastrointestinal foreign body were included in this study. Of these patients, 21 were male and 17 were female. The youngest patient was 17 years old and the oldest patient was 79 years old. Most of the foreign bodies (%55.3 detected in the stomach. Food waste and metallic objects in 21 and 16 patients respectively. The most common complaint was dysphagia (%50. After endoscopic intervention three of the patients were directed to surgery. Conclusion: Early recognition and treatment of gastrointestinal foreign bodies is important as their complications are life threatening. The best method of removal of foreign bodies is controversial. Early management with upper gastrointestinal endoscopy is the most efficient and safe treatment method in current conditions.

  18. Evaluation of the hormones responsible for the gastrointestinal motility in cattle with displacement of the abomasum; ghrelin, motilin and gastrin.

    Science.gov (United States)

    Ozturk, A S; Guzel, M; Askar, T K; Aytekin, I

    2013-06-15

    This study provides the evidence of increased serum gastrointestinal motility hormone concentrations including ghrelin, motilin and gastrin in cattle with displacement of abomasum (DA). In this study, 38 cows with DA (21 left DA (LDA) and 17 right DA (RDA)) and 15 healthy controls were included. All cattle with DA were at the stage of postpartum one to eight weeks, and had clinical signs including anorexia, decreased milk yield and scanty, pasty faeces. Serum ghrelin, motilin and gastrin concentrations, and leptin concentration which is a functional antagonist of ghrelin, were determined by ELISA. Serum alanine aminotransferase (ALT), aspartate aminotransferase (AST), gamma-glutamyl transferase (GGT), Na, K, Cl, Ca and P concentrations were measured by spectrophotometer. In serum biochemical analysis, increases were seen on the serum ALT, AST and GGT activities; however, serum Na, K, Cl and P concentrations decreased in abomasal displacement compared with the control animals. The serum ghrelin, motilin and gastrin concentrations increased in the cattle with LDA and RDA, as compared with those in the healthy controls. On the other hand, serum leptin concentration decreased in the cattle with DA compared with the controls. Increases in the serum ghrelin, motilin and gastrin concentrations might be attributed to activation of gastrointestinal motility hormones to enhance of gastric emptying in impaired gastric motility and/or outlet occlusion in displaced abomasum.

  19. Gas tonometry for evaluation of gastrointestinal mucosal perfusion: experimental models of trauma, shock and complex surgical maneuvers - Part 1

    Directory of Open Access Journals (Sweden)

    Figueiredo Luiz Francisco Poli de

    2002-01-01

    Full Text Available Substantial clinical and animal evidences indicate that the mesenteric circulatory bed, particularly the gut mucosa, is highly vulnerable to reductions in oxygen supply and prone to early injury in the course of hemodynamic changes induced by trauma, shock, sepsis and several complex surgical maneuvers. Gut hypoxia or ischemia is one possible contributing factor to gastrointestinal tract barrier dysfunction that may be associated with the development of systemic inflammatory response and multiple organ dysfunction syndrome, a common cause of death after trauma, sepsis or major surgeries. Monitoring gut perfusion during experiments may provide valuable insights over new interventions and therapies highly needed to reduce trauma and sepsis-related morbidity and mortality. We present our experience with gas tonometry as a monitor of the adequacy of gastrointestinal mucosal perfusion in clinical and experimental models of trauma, shock and surgical maneuvers associated with abrupt hemodynamic changes, such as aortic occlusion and hepatic vascular exclusion. Next issue we will be presenting our experience with gas tonometry in experimental and clinical sepsis.

  20. Pseudoamblyopia in Congenital Cyclotropia

    Directory of Open Access Journals (Sweden)

    Antonio Frattolillo

    2017-01-01

    Full Text Available Purpose. To study the effect of surgery on amblyopia and suppression associated with congenital cyclovertical strabismus. Methods. The fixation pattern was investigated with microperimetry before and soon after surgery in ten consecutive children operated for congenital superior oblique palsy at the S. Martino Hospital, Belluno, Italy, between September 2014 and December 2015. Changes in visual performance in terms of best-corrected visual acuity (BCVA and stereopsis between the day before and one week after surgery were also evaluated. No other amblyopia treatment has been administered during the time study. Results. Surgical correction of the excyclodeviation in congenital SO palsy determined monocular and binocular sensory consequences: monocularly, in the cyclodeviated amblyopic eye, BCVA (0.46–0.03 LogMAR; p<0.0001 and the fixation pattern improved, as demonstrated by microperimetry examination. Binocularly, stereopsis improved or emerged while suppression at the Worth four-dot test disappeared. Conclusions. In the absence of further amblyopic factors such as coexisting constant vertical and/or horizontal deviation and anisometropia, the amblyopia encountered in congenital SO palsy may resolve soon after the surgical alignment. Therefore, it may be considered and defined “pseudoamblyopia.”

  1. Long-term follow-up evaluation of renal function in patients treated with peritoneal dialysis after cardiac surgery for correction of congenital anomalies.

    Science.gov (United States)

    Mel, Eran; Davidovits, Miriam; Dagan, Ovdi

    2014-01-01

    Available data on the long-term renal outcome of patients who required renal replacement therapy after cardiac surgery for correction of congenital cardiac anomalies are scarce. The aim of the present study was to investigate the long-term renal prognosis of children treated with peritoneal dialysis after surgical correction of congenital heart anomalies. The present single-center cohort study was based on clinical data from patients who underwent surgery for the correction of congenital heart disease between 1996 and 2004 at the Schneider's Children's Medical Center of Israel, and developed acute kidney injury (AKI) requiring peritoneal dialysis. Perioperative risk factors were analyzed. Survivors were followed up for 3.5 to 10.5 years after their surgery. Renal function was assessed in survivors by physical examination, including blood pressure, growth evaluation, urinalysis, glomerular filtration rate estimated from plasma creatinine using the Schwartz formula, and ultrasonographic examination of the kidneys. There were 2994 children who underwent surgery during the study period. Eighty-four children (2.84%) developed postoperative AKI that was managed with peritoneal dialysis. Seventy-six children were included in our study, 8 were excluded because of a lack of complete data. Of the 76 children included, 35 died during the immediate postoperative period, 15 died during the interim of nonrenal causes, and 26 were alive at the time of follow-up evaluation. Twenty-five patients with a complete evaluation had blood pressure measurements in the normal range. Plasma creatinine levels were normal for age. Only 1 child, who had a pre-existing congenital renal anomaly, had an abnormal glomerular filtration rate. None of the children had proteinuria. Three children were treated with angiotensin-converting enzyme inhibitors and 2 were treated with furosemide for congestive heart failure. We found no risk factors associated with immediate postoperative death. Despite

  2. [Congenital hydrocephalus].

    Science.gov (United States)

    Malagón-Valdez, J

    2006-04-10

    Congenital hydrocephalus or ventriculomegaly is a disorder that now can be diagnosed in uterus with ultrasonography, this gives the chance of being able to give a treatment the earliest as possible. The clinical manifestations are reviewed, the diagnosis, the frequent treatment and causes of congenital hydrocephalus, being the first agenesis of the Sylvius' aqueduct, followed by Arnold-Chiari's malformations with mielomeningocele. In most of the cases the peritoneal-ventricle shunt is the best surgery treatment and now, the treatment with ventriculostomy of third ventricle by endoscopy has fewer complications apparently and in several cases it is the definitive treatment. The evolution of the diagnosis with the support of specific therapies is effective and the early treatment is good, of course taking into account the etiology.

  3. [Congenital aniridia].

    Science.gov (United States)

    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.

  4. Congenital diplopodia

    Energy Technology Data Exchange (ETDEWEB)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam [University of California, Davis, Department of Radiology, 4860 Y. Street, Suite 3100, CA 95817, Davis (United States)

    2003-11-01

    Diplopodia, or duplicated foot, is a rare congenital anomaly. It differs from polydactyly in that supernumerary metatarsal and tarsal bones are present as well as extra digits. Only a few cases of this anomaly have been reported in the literature to date. We present a newborn male without intrauterine teratogen exposure who was born with a duplicate foot of the left lower extremity and imperforate anus. (orig.)

  5. Evaluating Atlantoaxial Dislocation Based on Cartesian Coordinates: Proposing a New Definition and Its Impact on Assessment of Congenital Torticollis.

    Science.gov (United States)

    Sardhara, Jayesh; Behari, Sanjay; Sindgikar, Pavaman; Srivastava, Arun Kumar; Mehrotra, Anant; Das, Kuntal Kanti; Bhaisora, Kamlesh Singh; Sahu, Rabi N; Jaiswal, Awadhesh K

    2017-05-03

    Conventional 2-dimensional (2-D) definition of atlantoaxial dislocation (AAD) is inadequate for coexisting 3-D displacements. To prospectively classify AAD and its related abnormalities along 3 Cartesian coordinates and assess their association with torticollis. One hundred and fifty-four patients with congenital AAD were prospectively classified according to their C1-2 displacement along 3 Cartesian coordinates utilizing 3-D multiplanar CT. The impact of this 3-D dislocation on occurrence of clinically manifest torticollis was also evaluated and surgical treatment was planned. Three dimensional CT assessment detected the following types of C1-2 dislocations: I:translational dislocation (along Z coordinate, n = 37 [24%]); II: central dislocation (along Y coordinate, n = 10 [6.5%]); III: translational+central dislocation (along Z+Y coordinates, n = 42 [27.3%]); IV: translational dislocation+ rotational dislocation+coronal tilt (along Z+X coordinates, (n = 6 [3.9%]); V: central dislocation (basilar invagination)+rotational dislocation+coronal tilt (along Y+X coordinates, n = 11 [7.1%]); VI: translational dislocation+ central dislocation+ rotational dislocation+ coronal tilt (along all 3 axes, n = 48 [31%]). Assessing degree of relative C1-2 rotation revealed that 27 (37%) of 85 patients with 5° rotation had associated torticollis. Translational dislocation had negative association (odds ratio [OR] 0.1, 95% confidence interval [CI; 0.47-0.32], P = .00), while type VI (OR 5.0, 95% CI [2.2-11.19], P = .00), type V (OR 4.44, 95% CI [0.93-21.26], P = .04), and type IV (OR 1.84, 95% CI [0.32-10.38], P = .48) dislocations had strong positive association with torticollis. Sixty-two (40%) patients improved, 68 (44%) remained unchanged, and 24 (16%) patients worsened postoperatively. Twenty-eight patients required second-stage transoral decompression following posterior distraction-fusion due to neurological nonimprovement. Three-dimensional assessment of AAD including

  6. Separate Evaluation of the Ipsilateral and Contralateral MR Fetal Lung Volume in Patients With Congenital Diaphragmatic Hernia.

    Science.gov (United States)

    Hagelstein, Claudia; Burger-Scheidlin, Stefan; Weis, Meike; Weiss, Christel; Schoenberg, Stefan O; Schaible, Thomas; Neff, K Wolfgang

    2016-08-01

    Our study had two objectives. First, we separately evaluated observed-to-expected MR fetal lung volume (FLV) of lungs ipsilateral and contralateral to a congenital diaphragmatic hernia (CDH). Second, we compared the prognostic value of observed-to-expected MR FLV of the ipsilateral and contralateral lungs with that of observed-to-expected MR FLV of both lungs with respect to survival, need for extracorporeal membrane oxygenation (ECMO), and development of chronic lung disease (CLD). We evaluated observed-to-expected MR FLV of the lung ipsilateral to the diaphragmatic defect as well as in the contralateral lung in 107 fetuses with isolated CDH. ROC analysis and logistic regression analysis were performed to assess the prognostic value of the observed-to-expected MR FLV for association with outcome. In all fetuses with CDH, values in the ipsilateral (mean observed-to-expected MR FLV ± SD, 9.4% ± 9.6%) and the contralateral lung (mean observed-to-expected MR FLV, 48.9% ± 18.5%; p lungs and of the contralateral and ipsilateral lung revealed significant differences regarding survival (p lungs, the observed-to-expected MR FLV of the contralateral lung showed a slightly higher prognostic accuracy regarding survival (AUC = 0.859 vs 0.825) and development of CLD (AUC = 0.734 vs 0.732) and a similar prognostic accuracy regarding need for ECMO (AUC = 0.805 vs 0.826). Observed-to-expected MR FLV of the ipsilateral lung did not show good prognostic value regarding survival (AUC = 0.617), need for ECMO (AUC = 0.673), and development of CLD (AUC = 0.636). These AUCs were significantly smaller than the AUCs resulting from the observed-to-expected MR FLV of both lungs (each p lung (each p lungs compared with healthy fetuses. The observed-to-expected MR FLV of both lungs as well as of the lung contralateral to the CDH were reliable prenatal predictors of survival, need for ECMO, and development of CLD.

  7. Gastrointestinal events with clopidogrel

    DEFF Research Database (Denmark)

    Grove, Erik Lerkevang; Würtz, Morten; Schwarz, Peter

    2013-01-01

    Clopidogrel prevents cardiovascular events, but has been linked with adverse gastrointestinal (GI) complications, particularly bleeding events.......Clopidogrel prevents cardiovascular events, but has been linked with adverse gastrointestinal (GI) complications, particularly bleeding events....

  8. Congenital syphilis

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Wook; Kim, Kyung Soo; Hur, Don [Chosun University College of Medicine, Kwangju (Korea, Republic of)

    1983-12-15

    In recent years, marked increase in incidence of congenital syphilis has occurred throughout the world due to changes in social norms and development of penicillin-resistant strains. Early diagnosis plays an important role in congenital syphilis as the clinical manifestations may simulate many other conditions in the paediatric age group. The authors analyzed 52 cases of congenital syphilis admitted to the department of paediatrics, Chosun University Hospital, clinically and radiologically. Among them, 18 cases were born in this hospital and 34 cases were admitted from OPD, during the period of 8 years from January, 1975 to December, 1982. The results obtained were as follows; 1. In 28 of 34 cases (82%), the first clinical manifestations were below the age of 3 months. 2. Among the 52 cases, a male predominance was observed with a male to female ratio of 2 : 1. 3. The serologic test (VDRL) of the 52 studied cases showed reactive response in 49 cases (94%), and that of syphilitic mothers except 6 cases, reactive in all studied cases. 4. The major manifestations of the 52 cases were bone tenderness (12%) and swelling of the joints (7%) in skeletal system, hepatosplenomegaly (79%) and skin lesions (73%) in extraskeletal one. 5. The radiological skeletal changes were detected in 45 of 52 cases (87%), and the commonest findings were detected in 45 of 52 cases (87%), and the commonest findings were metaphysitis (83%) and periostitis (81%). The most characteristic type of metaphysitis were transverse trophic line (74%) and zone of rarefaction (65%). 6. The commonest bones to be affected were growing metaphyses of the long bones, particulary about the wrist and the knee. The order of frequency were radius (80%), uina (80%), tibia (77%), femur (69%) and humerus (40%)

  9. Evaluating Low-kV Dual-source CT Angiography by High-pitch Spiral Acquisition and Iterative Reconstruction in Pediatric Congenital Heart Disease Patients.

    Science.gov (United States)

    Marukawa, Yohei; Sato, Shuhei; Tanaka, Takashi; Tada, Akihiro; Kanie, Yuichiro; Kanazawa, Susumu

    2017-10-01

    We retrospectively evaluated the qualities of pediatric cardiovascular dual-source computed tomography (DSCT) images reconstructed by sinogram-affirmed iterative reconstruction (SAFIRE) and filtered back projection (FBP). We analyzed the cases of 287 congenital heart disease (CHD) patients heart and great vessels were measured. The volume CT dose index and dose-length product values were recorded. Compared to FBP, reconstruction by SAFIRE showed that the attenuation volume was significantly lower by 0.4% except for the ascending aorta (ppediatric patients with CHD.

  10. Use of a 1.0 Tesla open scanner for evaluation of pediatric and congenital heart disease: a retrospective cohort study.

    Science.gov (United States)

    Lu, Jimmy C; Nielsen, James C; Morowitz, Layne; Musani, Muzammil; Ghadimi Mahani, Maryam; Agarwal, Prachi P; Ibrahim, El-Sayed H; Dorfman, Adam L

    2015-05-25

    Open cardiovascular magnetic resonance (CMR) scanners offer the potential for imaging patients with claustrophobia or large body size, but at a lower 1.0 Tesla magnetic field. This study aimed to evaluate the efficacy of open CMR for evaluation of pediatric and congenital heart disease. This retrospective, cross-sectional study included all patients ≤18 years old or with congenital heart disease who underwent CMR on an open 1.0 Tesla scanner at two centers from 2012-2014. Indications for CMR and clinical questions were extracted from the medical record. Studies were qualitatively graded for image quality and diagnostic utility. In a subset of 25 patients, signal-to-noise (SNR) and contrast-to-noise (CNR) ratios were compared to size- and diagnosis-matched patients with CMR on a 1.5 Tesla scanner. A total of 65 patients (median 17.3 years old, 60% male) were included. Congenital heart disease was present in 32 (50%), with tetralogy of Fallot and bicuspid aortic valve the most common diagnoses. Open CMR was used due to scheduling/equipment issues in 51 (80%), claustrophobia in 7 (11%), and patient size in 3 (5%); 4 patients with claustrophobia had failed CMR on a different scanner, but completed the study on open CMR without sedation. All patients had good or excellent image quality on black blood, phase contrast, magnetic resonance angiography, and late gadolinium enhancement imaging. There was below average image quality in 3/63 (5%) patients with cine images, and 4/15 (27%) patients with coronary artery imaging. SNR and CNR were decreased in cine and magnetic resonance angiography images compared to 1.5 Tesla. The clinical question was answered adequately in all but 2 patients; 1 patient with a Fontan had artifact from an embolization coil limiting RV volume analysis, and in 1 patient the right coronary artery origin was not well seen. Open 1.0 Tesla scanners can effectively evaluate pediatric and congenital heart disease, including patients with claustrophobia

  11. Evaluation of Supporting Role of Early Enteral Feeding Via Tube Jejunostomy Following Resection of Upper Gastrointestinal Tract

    Directory of Open Access Journals (Sweden)

    Zhamak Khorgami

    2012-02-01

    Full Text Available Background: Today, early diagnosis of upper gastrointestinal (GI tract malignancies and their surgical resection is becoming more feasible. One of the important side effects in upper GI tract malignancies is malnutrition which has direct relationship with postoperative complications. Nonetheless, there is no easy regimen of nutrition for these patients especially for the first week after operation. Accordingly we present a simple method for improving feeding such patients via tube jejunostomy. The aim of this study was to investigate the impact of early enteral feeding (EEF on postoperative course after complete resection of upper gastrointestinal tract malignancy and reconstruction. Methods: Between September 2005 to September 2008, 60 consecutive patients (22 female, 38 male with upper GI tract malignancies who had undergone complete resection and reconstruction enrolled in this study. The patients randomly divided equally in two groups of control and EEF. Control group was treated with traditional management of nil by mouth and intravenous fluids for the first five postoperative days and then with liquids and enteral regular diet when tolerated. In EEF group the patients were fed by tube jejunostomy from 1st postoperative day and assessed for nutritional status before surgery and 5 days after surgery. Both groups were monitored on the basis of weight gain, clinical and paraclinical parameters and postoperative complications. Results: Sixty patients were randomly divided to two equal groups. Surgical procedures were similar in two groups and no significant difference in demographic and basic nutritional status were found. On 5th postoperative day serum albumin was 4.2±0.4 g/dl in EEF and 3.6±0.3 g/dl in control group (p= 0.041. Also serum transferrin was 260.8±2.5 mg/dl and 208±1.8 mg/dl in EEF and control group respectively (p<0.001. Moreover, hospital stay was shorter in EEF group (7.7±3.1 vs. 14±2.5 days, p=0.009.There were four (13

  12. in upper gastrointestinal endoscopy

    Directory of Open Access Journals (Sweden)

    Sinan Uzman

    2016-07-01

    Full Text Available Introduction : There is increasing interest in sedation for upper gastrointestinal endoscopy (UGE. Prospective randomized studies comparing sedation properties and complications of propofol and midazolam/meperidine in upper gastrointestinal endoscopy (UGE are few. Aim: To compare propofol and midazolam/meperidine sedation for UGE in terms of cardiopulmonary side effects, patient and endoscopist satisfaction and procedure-related times. Material and methods: This was a prospective, randomized, double-blind study of propofol versus midazolam and meperidine in 100 patients scheduled for diagnostic upper gastrointestinal endoscopy. The patients were divided into propofol and midazolam/meperidine groups. Randomization was generated by a computer. Cardiopulmonary side effects (hypotension, bradycardia, hypoxemia, procedure-related times (endoscopy time, awake time, time to hospital discharge, and patient and endoscopist satisfaction were compared between groups. Results: There was no significant difference between the groups with respect to the cost, endoscopy time, or demographic and clinical characteristics of the patients. Awake time and time to hospital discharge were significantly shorter in the propofol group (6.58 ±4.72 vs. 9.32 ±4.26 min, p = 0.030 and 27.60 ±7.88 vs. 32.00 ±10.54 min, p = 0.019. Hypotension incidence was significantly higher in the propofol group (12% vs. 0%, p = 0.027. The patient and endoscopist satisfaction was better with propofol. Conclusions : Propofol may be preferred to midazolam/meperidine sedation, with a shorter awake and hospital discharge time and better patient and endoscopist satisfaction. However, hypotension risk should be considered with propofol, and careful evaluation is needed, particularly in cardiopulmonary disorders.

  13. Evaluation of Complications of Heart Surgery in Children With Congenital Heart Disease at Dena Hospital of Shiraz

    OpenAIRE

    Mirzaei, Maryam; Mirzaei, Samaneh; Sepahvand, Elham; Koshkaki, Afifeh Rahmanian; Jahromi, Marzieh Kargar

    2015-01-01

    Introduction: Today, with progress in the field of congenital heart surgery, different complicated actions are done in children. These actions may be associated with several complications, especially open heart surgery in which the cardiopulmonary bypass (CPB) is used. Serious complications can be caused high morbidity and mortality rates. Present study has been performed to determine the incidence of morbidity and mortality in cardiac surgery in children. Method: In a cross-sectional retrosp...

  14. Radiological evaluation with Doppler sonography and multidetector CT angiography in congenital hepatic arteriovenous malformation in a newborn

    Energy Technology Data Exchange (ETDEWEB)

    Adaletli, Ibrahim; Kurugoglu, Sebuh; Kilic, Fahrettin [Istanbul University, Department of Radiology, Cerrahpasa Medical Faculty (Turkey); Senyuz, Osman F. [Istanbul University, Department of Paediatric Surgery, Cerrahpasa Medical Faculty (Turkey); Dervisoglu, Sergulen [Istanbul University, Department of Pathology, Cerrahpasa Medical Faculty (Turkey)

    2006-11-15

    Although hepatic arteriovenous malformations are rarely reported, they frequently have life-threatening complications such as cardiac failure and are associated with a high mortality rate. Consequently, accurate prenatal and early postnatal diagnosis is important and therapeutic procedures depend on the imaging features. We report the early postnatal sonographic, Doppler sonographic, multidetector CT and CT angiography findings of a congenital hepatic arteriovenous malformation in a newborn. (orig.)

  15. Evaluation of Congenital Valvular Heart Diseases by the Pediatrician: When to Follow, When to Refer for Intervention?

    Science.gov (United States)

    Singhi, Anil Kumar; Kumar, Raman Krishna

    2015-11-01

    Isolated congenital valvular heart disease in children constitutes a small fraction of congenital heart diseases. Valve involvement is seen more along with other congenital diseases. The most commonly involved valve is the pulmonary valve followed by the aortic valve. Stenotic lesions of the pulmonary and aortic valves are more frequently encountered than mitral and tricuspid valvular lesions. The presentation depends on the severity of the lesion and the age of the patient. Symptoms range from asymptomatic status to florid symptoms of valve obstruction and/or leak. Detailed clinical assessment and various imaging techniques confirm the diagnosis and help in management planning. Transcatheter balloon dilatation for obstructive pulmonary valve has very good long-term outcomes. The results of balloon dilation of aortic valve are also good enough for it to be the treatment of choice. Significant lesions of the mitral and tricuspid valve, regurgitant lesions, sub and supra valvular obstructions require surgical correction. Most valvar lesions mandate regular follow up. Communication and coordination between the pediatric cardiologist and the pediatrician helps in the optimal management.

  16. Update on congenital glaucoma

    Directory of Open Access Journals (Sweden)

    Mandal Anil

    2011-12-01

    Full Text Available Congenital glaucoma is a global problem and poses a diagnostic and therapeutic challenge to the ophthalmologist. A detailed evaluation under general anesthesia is advisable to establish the diagnosis and plan for management. Medical therapy has a limited role and surgery remains the primary therapeutic modality. While goniotomy or trabeculotomy ab externo is valuable in the management of congenital glaucoma, primary combined trabeculotomy-trabeculectomy offers the best hope of success in advanced cases. Trabeculectomy with antifibrotic agent and glaucoma drainage devices has a role in the management of refractory cases, and cyclodestructive procedures should be reserved for patients where these procedures have failed. Early diagnosis, prompt therapeutic intervention and proper refractive correction are keys to success. Management of residual vision and visual rehabilitation should be an integral part of the management of children with low vision and lifelong follow-up is a must.

  17. Update on congenital glaucoma

    Science.gov (United States)

    Mandal, Anil K; Chakrabarti, Debasis

    2011-01-01

    Congenital glaucoma is a global problem and poses a diagnostic and therapeutic challenge to the ophthalmologist. A detailed evaluation under general anesthesia is advisable to establish the diagnosis and plan for management. Medical therapy has a limited role and surgery remains the primary therapeutic modality. While goniotomy or trabeculotomy ab externo is valuable in the management of congenital glaucoma, primary combined trabeculotomy–trabeculectomy offers the best hope of success in advanced cases. Trabeculectomy with antifibrotic agent and glaucoma drainage devices has a role in the management of refractory cases, and cyclodestructive procedures should be reserved for patients where these procedures have failed. Early diagnosis, prompt therapeutic intervention and proper refractive correction are keys to success. Management of residual vision and visual rehabilitation should be an integral part of the management of children with low vision and lifelong follow-up is a must. PMID:21150027

  18. Microencapsulation of Lactobacillus plantarum (mtcc 5422) by spray-freeze-drying method and evaluation of survival in simulated gastrointestinal conditions.

    Science.gov (United States)

    Dolly, Priyanka; Anishaparvin, A; Joseph, G S; Anandharamakrishnan, C

    2011-01-01

    Spray-drying (SD) and freeze-drying (FD) are widely used methods for microencapsulation of heat-sensitive materials like probiotics for long-term preservation and transport. Spray-freeze-drying (SFD) is relatively a new technique that involves spraying a solution into a cold medium and removal of solvent (water) by conventional vacuum FD method. In this study, the SFD microencapsulated Lactobacillus plantarum powder (1:1 and 1:1.5 core-to-wall ratios of whey protein) is compared with the microencapsulated powders produced by FD and SD methods. The SFD and FD processed microencapsulated powder show 20% higher cell viability than the SD samples. In simulated gastrointestinal conditions, the SFD and FD cells show up to 4 h better tolerance than SD samples and unencapsulated cells in acidic and pepsin condition. The morphology of SFD samples shows particles almost in spherical shape with numerous fine pores, which in turn results in good rehydration behaviour of the powdered product.

  19. Screening of large panel of gastrointestinal peptide plasma levels is not adapted for the evaluation of digestive damage following irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Dublineau, I.; Dudoignon, N.; Monti, P.; Combes, O.; Wysocki, J.; Grison, S.; Baudelin, C.; Griffiths, N.M.; Scanff, P. [Inst. de Radioprotection et de Surete Nucleaire (IRSN), Direction de la RadioProtection de l' Homme, Service de Radiobiologie et d' Epidemiologie, Fontenay-aux-Roses, CEDEX (France)]. E-mail: isabelle.dublineau@irsn.fr

    2004-02-01

    The aim of this study was to assess the potential of gastrointestinal peptide plasma levels as biomarkers of radiation-induced digestive tract damage. To this end, plasma levels of substance P, GRP, motilin, PYY, somatostatin-28, gastrin, and neurotensin were followed for up to 5 days in pigs after a 16-Gy whole-body X-irradiation, completed by a histopathological study performed at 5 days. Each peptide gave a specific response to irradiation. The plasma levels of GRP and substance P were not modified by irradiation exposure; neither were those of motilin and PYY. Concerning gastrin, a 2-3-fold increase of plasma concentration was observed in pig, which presented the most important histological alterations of the stomach. The plasma levels of somatostatin, unchanged from 1 to 4 days after irradiation, was also increased by 130% at 5 days. In contrast, a diminution of neurotensin plasma levels was noted, firstly at 1 day (-88%), and from 3 days after exposure (-50%). The present study suggested that changes in gastrin and neurotensin plasma levels were associated with structural alterations of the stomach and ileum, respectively, indicating that they may be relevant biological indicators of radiation-induced digestive damage to these segments. (author)

  20. Applicability of an in vitro gastrointestinal digestion method to evaluation of toxic elements bioaccessibility from algae for human consumption.

    Science.gov (United States)

    Desideri, Donatella; Roselli, Carla; Feduzi, Laura; Ugolini, Lucia; Meli, Maria Assunta

    2018-02-13

    This study aimed to investigate the bioaccessibility of toxic elements, including aluminum (Al), arsenic (As), nickel (Ni), cadmium (Cd), and lead (Pb) in five commercial algae consumed by humans in Italy. The degree of bioaccessibility of these elements may have important implications for human health. Simulation of gastrointestinal tract (GIT) digestion was divided into three stages through use of synthetic saliva, gastric, and bile-pancreas solutions. After pre-treatment with a saliva solution, seaweed samples underwent one of the following treatments: (1) simulated gastric digestion only or (2) simulated complete GIT digestion (gastric digestion followed by bile-pancreas digestion). The bioaccessibility of these toxic elements ranged from approximately 5% to 73% and from 4% to 77% in gastric and GIT digestion, respectively. The bioaccessibility of Al and Pb is poor (5-15%), As and Ni were fairly (40-55%), while Cd displayed a high bioaccessibility. No significant differences in toxic elements mobility was found between samples that only underwent gastric digestion compared to those that underwent a complete GIT digestion.

  1. Evaluation studies of persimmon plant (Diospyros kaki) for physiological benefits and bioaccessibility of antioxidants by in vitro simulated gastrointestinal digestion.

    Science.gov (United States)

    Martínez-Las Heras, Ruth; Pinazo, Alicia; Heredia, Ana; Andrés, Ana

    2017-01-01

    This study aims to analyze the antioxidant benefits from persimmon leaf tea, fruit and fibres taking into account their changes along gastrointestinal digestion. The evolution of polyphenols, flavonoids and antioxidant capacity was studied using the recent harmonized in vitro protocol published by Minekus et al. (2014). The digestion was performed with and without digestive enzymes. Results showed aqueous leaf extract was richer in antioxidants than the fruit or the extracted fibres. Nevertheless, persimmon-leaf antioxidants were more sensitive to the digestive environment. In general, the oral conditions greatly affected the antioxidants, while gastric digestion led to slight additional losses. The intestinal step enhanced polyphenols and flavonoids solubility coming from the fruit and fibres. Additionally, the presence of digestive enzymes positively contributed to antioxidant release throughout digestion. Finally, the bioaccessibility of polyphenols, flavonoids and antioxidant activity of persimmon fruit were 1.4, 1.0 and 3.8 times higher than in aqueous leaf extract. Copyright © 2016 Elsevier Ltd. All rights reserved.

  2. Scintigraphic assessment of gastrointestinal motility

    DEFF Research Database (Denmark)

    Madsen, Jan Lysgård

    2014-01-01

    . Dysmotility in the different major segments of the gastrointestinal tract may give rise to similar symptoms; hence, localizing transit abnormalities to a specific segment is a valuable element of diagnostic evaluation. Scintigraphy is an effective noninvasive tool to assess gastric emptying as well as small...

  3. Congenital Toxoplasmosis

    Science.gov (United States)

    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

  4. Probiotic and Synbiotic Sorbets Produced with Jussara (Euterpe edulis) Pulp: Evaluation Throughout the Storage Period and Effect of the Matrix on Probiotics Exposed to Simulated Gastrointestinal Fluids.

    Science.gov (United States)

    Marinho, Júlia Fernanda Urbano; da Silva, Marluci Palazzolli; Mazzocato, Marcella Chalella; Tulini, Fabrício Luiz; Favaro-Trindade, Carmen Sílvia

    2017-11-08

    The aims of the present study were to develop and evaluate different formulations of probiotic and synbiotic sorbets produced with jussara (Euterpe edulis) pulp, polydextrose, Lactobacillus acidophilus LA3, and Lactobacillus paracasei BGP1. The pasteurized jussara pulp presented high content of phenolic compounds, especially anthocyanins, which were not inhibitory to the probiotics used in this study. The levels of polyphenols and anthocyanins present in the sorbets were also high and kept stable for 120 days, as well as the populations of both probiotics. On the other hand, probiotic populations reduced ca. 4 log CFU/g when exposed to simulated gastrointestinal fluids. Altogether, the sorbets produced in this study showed interesting results, indicating the viability on producing functional foods with probiotics, prebiotics, and other components that are rich in polyphenols, such as jussara pulp. The combination of these elements can improve the health beneficial effects of these compounds and provide important advantages to the intestinal microbiota of consumers.

  5. Early Evaluation of Response Using18F-FDG PET Influences Management in Gastrointestinal Stromal Tumor Patients Treated with Neoadjuvant Imatinib.

    Science.gov (United States)

    Farag, Sheima; Geus-Oei, Lioe-Fee de; van der Graaf, Winette T; van Coevorden, Frits; Grunhagen, Dirk; Reyners, Anna K L; Boonstra, Pieter A; Desar, Ingrid; Gelderblom, Hans; Steeghs, Neeltje

    2018-02-01

    18 F-FDG PET has previously been proven effective as an early way to evaluate the response of gastrointestinal stromal tumors (GISTs) to imatinib treatment. However, it is unclear whether early evaluation of response affects treatment decisions in GIST patients treated with neoadjuvant intent. Methods: We retrospectively scored changes in management based on early evaluation of response by 18 F-FDG PET in patients in the Dutch GIST registry treated with neoadjuvant imatinib. Results: Seventy 18 F-FDG PET scans were obtained for 63 GIST patients to evaluate for an early response to neoadjuvant imatinib. The scans led to a change in management in 27.1% of the patients. Change in management correlated strongly with lack of metabolic response ( P < 0.001) and non- KIT exon 11-mutated GISTs ( P < 0.001). Conclusion: Performing 18 F-FDG PET for early evaluation of response often results in a change of management in GIST patients harboring the non- KIT exon 11 mutation and should be considered the standard of care in GIST patients treated with neoadjuvant intent. © 2018 by the Society of Nuclear Medicine and Molecular Imaging.

  6. Evaluation of exercise capacity with cardiopulmonary exercise test and B-type natriuretic peptide in adults with congenital heart disease.

    Science.gov (United States)

    Trojnarska, Olga; Gwizdała, Adrian; Katarzyński, Sławomir; Katarzyńska, Agnieszka; Szyszka, Andrzej; Lanocha, Magdalena; Grajek, Stefan; Kramer, Lucyna

    2009-01-01

    Adult patients with congenital heart disease (CHD) usually find their exercise capacity satisfactory. However, objective evaluation is important for diagnostic and prognostic purposes. The aim of this study was to evaluate exercise capacity using cardiopulmonary exercise tests and measurement of serum B-type natriuretic peptide (BNP) levels in adult patients with CHDs, both in the entire study cohort and in subjects with individual types of cardiac lesions, as well as to verify the relation between BNP level and cardiac performance. The study group included 265 patients (136 males; mean age 34.4 +/- 11.6 years) 173 of whom were operated on at the mean age of 9.2 +/- 7.3 years. They represented the following types of CHD: 72 patients--surgically corrected coarctation of the aorta, 62--surgically corrected tetralogy of Fallot, 28--Ebstein anomaly, 26--patent atrial septal defect, 24--Eisenmenger syndrome, 20--uncorrected or palliated complex cyanotic lesions, 11--corrected transposition of the great arteries (TGA), 14--TGA after Senning operation, and 8--common ventricle after Fontana operation. The control group consisted of 39 healthy individuals (17 males) with a mean age of 35.8 +/- 9.3 years. According to NYHA classification, 207 patients were recognized as representing class I symptoms, 47 subjects class II, and 11 class III. Cardiopulmonary exercise revealed significantly reduced exercise capacity in adults with CHD in general, compared to control subjects: maximal oxygen uptake (VO2max) was 23.3 +/- 6.9 vs. 33.6 +/- 7.2 mL/kg/min, respectively (p = 0.00001); maximum heart rate at peak exercise (HRmax) -161.1 +/- 33.2 vs. 179.6 +/- 12.3 bpm (p = 0.00001); respiratory workload (VE/VCO2slope) - 35.7 +/- 9.7 vs. 26.3 +/- 3.1 (p = 0.00001); and forced vital capacity (FVC) - 3.8 +/- 1.1 vs. 4.6 +/- 0.7 L (p = 0.00003). Various degrees of peak VO2max reduction were observed across the spectrum of CHD. Patients after repair of aortic coarctation demonstrated the

  7. Gastrointestinal stromal tumors of the esophagus: evaluation of a pooled case series regarding clinicopathological features and clinical outcome

    Science.gov (United States)

    Lott, Simon; Schmieder, Michael; Mayer, Benjamin; Henne-Bruns, Doris; Knippschild, Uwe; Agaimy, Abbas; Schwab, Matthias; Kramer, Klaus

    2015-01-01

    Background and Objectives: To elucidate diagnostic criteria, clinicopathological features and clinical outcome in patients with esophageal gastrointestinal stromal tumors (GIST), representing an extremely rare subform of GIST with an estimated incidence of about 0.1 to 0.3 per million people. Patients and methods: Esophageal GIST cases from the Ulmer GIST registry consisting of 1077 cases were pooled with case reports and case series of esophageal GIST extracted from MEDLINE. Data were compared with those from 683 cases with gastric GIST from the Ulmer GIST registry. Results: In comparison to gastric GIST, esophageal GIST (n = 55) occurred significantly more frequent in men (p = 0.035) as well as in patients younger than 60 at diagnosis (p < 0.001). Primary tumor sizes were significantly larger (p < 0.001), thereby resulting more frequently in a high-risk classification (OR = 4.53, CI 95% 2.41-8.52, p < 0.001). The 5-year rates of disease-specific survival (DSS), disease-free survival (DFS), and overall survival (OS) were 50.9%, 65.3% and 48.3%, respectively. The prognosis of esophageal GIST was less favorable compared with gastric GIST (DSS: p < 0.001, HR = 0.158, 95% CI: 0.087-0.288; DFS: p = 0.023, HR 0.466, 95% CI: 0.241-0.901; OS p = 0.003, HR = 0.481, 95% CI: 0.294-0.785; univariate Cox model) after a median follow-up time of 28 months (range 1.9 to 202). Mutational analysis for KIT showed more frequently wild-type status in esophageal GIST (OR = 10.13, CI 95% 3.02-33.96, p < 0.001). Conclusions: Esophageal GIST differ significantly from gastric GIST in respect to clinicopathological features and clinical outcome. To optimize treatment options further prospective data on patients with esophageal GIST are urgently warranted. PMID:25628942

  8. Solubility of nano-sized metal oxides evaluated by using in vitro simulated lung and gastrointestinal fluids: implication for health risks

    Science.gov (United States)

    Zhong, Laijin; Yu, Yanlin; Lian, Hong-zhen; Hu, Xin; Fu, Haomin; Chen, Yi-jun

    2017-11-01

    The solubility of nano-sized metal oxides (nZnO, nCuO, nTiO2, nCeO2, and nFe3O4, 17-42 nm) and some non-nano-mineral powders (ZnO, ZnSiO3, ZnS, and CuO) were evaluated by using gastrointestinal solubility bioavailability research consortium (SBRC), in vitro gastrointestinal (IVG) method, pulmonary artificial lysosomal fluid (ALF), and Gamble solution method, respectively. It is found that these nano-sized metal oxides aggregated more or less when suspending in the simulated biological fluids analyzed by dynamic light scattering (2 mg L-1) and UV-Vis spectrometry (100 mg L-1). The aggregation and sedimentation of nano-metal oxides in a simulated biofluid are influenced by its surface property and the ingredient of the liquid. The dissolution in fluids may decrease the aggregating radius of a nano-metal oxide. In return, the aggregative effect can influence the solubility of metal elements and result in their weakened bioaccessibility. The suspending stability was consistent in the order of nFe3O4 < nCuO < nTiO2 < nCeO2 < nZnO in all the simulated biological fluids. Nano-ZnO and nCuO showed higher gastrointestinal and pulmonary bioaccessibility than nFe3O4, nTiO2, and nCeO2. The further comparisons on the bioaccessibility for nCuO and nZnO with non-nano-powder CuO and ZnO indicated that the aggregating size in suspension could play more important role in influencing the bioaccessibility than single particle size does. The present study reveals that aggregation of all studied nano-sized metal oxides occurred in body physiologic fluids and that nZnO and nCuO were easily dissolved in simulated physiologic fluids, suggesting more potential health risks from nZnO and nCuO's exposure. [Figure not available: see fulltext.

  9. Gastric Duplication Cyst: A Rare Congenital Disease Often Misdiagnosed in Adults

    Directory of Open Access Journals (Sweden)

    Jessica Falleti

    2013-01-01

    Full Text Available Gastrointestinal duplication is a rare congenital disease which affected more commonly the ileum, while the stomach is rarely involved. Generally diagnosed in paediatric or young age, it could be difficult to suspect a gastrointestinal duplication in adults. Herein, we report a 55-year-old male with a gastric duplication cyst found on routinely checkup for chronic hepatitis and first misdiagnosed as a gastrointestinal stromal tumor (GIST; we also discuss its embryology.

  10. Evaluation of two dynamic in vitro models simulating fasted and fed state conditions in the upper gastrointestinal tract (TIM-1 and tiny-TIM) for investigating the bioaccessibility of pharmaceutical compounds from oral dosage forms

    NARCIS (Netherlands)

    Verwei, M.; Minekus, M.; Zeijdner, E.; Schilderink, R.; Havenaar, R.

    2016-01-01

    Pharmaceutical research needs predictive in vitro tools for API bioavailability in humans. We evaluated two dynamic in vitro gastrointestinal models: TIM-1 and tiny-TIM. Four low-soluble APIs in various formulations were investigated in the TIM systems under fasted and fed conditions. API

  11. Application of colon capsule endoscopy (CCE to evaluate the whole gastrointestinal tract: a comparative study of single-camera and dual-camera analysis

    Directory of Open Access Journals (Sweden)

    Remes-Troche JM

    2013-09-01

    Full Text Available José María Remes-Troche,1 Victoria Alejandra Jiménez-García,2 Josefa María García-Montes,2 Pedro Hergueta-Delgado,2 Federico Roesch-Dietlen,1 Juan Manuel Herrerías-Gutiérrez2 1Digestive Physiology and Motility Lab, Medical Biological Research Institute, Universidad Veracruzana, Veracruz, México; 2Gastroenterology Service, Virgen Macarena University Hospital, Seville, Spain Background and study aims: Colon capsule endoscopy (CCE was developed for the evaluation of colorectal pathology. In this study, our aim was to assess if a dual-camera analysis using CCE allows better evaluation of the whole gastrointestinal (GI tract compared to a single-camera analysis. Patients and methods: We included 21 patients (12 males, mean age 56.20 years submitted for a CCE examination. After standard colon preparation, the colon capsule endoscope (PillCam Colon™ was swallowed after reinitiation from its “sleep” mode. Four physicians performed the analysis: two reviewed both video streams at the same time (dual-camera analysis; one analyzed images from one side of the device (“camera 1”; and the other reviewed the opposite side (“camera 2”. We compared numbers of findings from different parts of the entire GI tract and level of agreement among reviewers. Results: A complete evaluation of the GI tract was possible in all patients. Dual-camera analysis provided 16% and 5% more findings compared to camera 1 and camera 2 analysis, respectively. Overall agreement was 62.7% (kappa = 0.44, 95% CI: 0.373–0.510. Esophageal (kappa = 0.611 and colorectal (kappa = 0.595 findings had a good level of agreement, while small bowel (kappa = 0.405 showed moderate agreement. Conclusion: The use of dual-camera analysis with CCE for the evaluation of the GI tract is feasible and detects more abnormalities when compared with single-camera analysis. Keywords: capsule endoscopy, colon, gastrointestinal tract, small bowel

  12. Primary Congenital Glaucoma in Kano, Northern Nigeria | Lawan ...

    African Journals Online (AJOL)

    Primary congenital glaucoma is one of the causes of childhood blindness and it appears to be common in our environment. This study evaluated the pattern of presentation and management of primary congenital glaucoma in children. This was a prospective questionnaire-based study of primary congenital glaucoma

  13. Dysbiosis in gastrointestinal disorders.

    Science.gov (United States)

    Chang, Christopher; Lin, Henry

    2016-02-01

    The recent development of advanced sequencing techniques has revealed the complexity and diverse functions of the gut microbiota. Furthermore, alterations in the composition or balance of the intestinal microbiota, or dysbiosis, are associated with many gastrointestinal diseases. The looming question is whether dysbiosis is a cause or effect of these diseases. In this review, we will evaluate the contribution of intestinal microbiota in obesity, fatty liver, inflammatory bowel disease, and irritable bowel syndrome. Promising results from microbiota or metabolite transfer experiments in animals suggest the microbiota may be sufficient to reproduce disease features in the appropriate host in certain disorders. Less compelling causal associations may reflect complex, multi-factorial disease pathogenesis, in which dysbiosis is a necessary condition. Understanding the contributions of the microbiota in GI diseases should offer novel insight into disease pathophysiology and deliver new treatment strategies such as therapeutic manipulation of the microbiota. Copyright © 2016. Published by Elsevier Ltd.

  14. Increased P-wave and QT dispersions necessitate long-term follow-up evaluation of Down syndrome patients with congenitally normal hearts.

    Science.gov (United States)

    Karadeniz, Cem; Ozdemir, Rahmi; Demir, Fikri; Yozgat, Yılmaz; Küçük, Mehmet; Oner, Talia; Karaarslan, Utku; Meşe, Timur; Unal, Nurettin

    2014-12-01

    Reports state that Down syndrome (DS) patients with congenitally normal hearts might experience the development of cardiac abnormalities such as cardiac autonomic dysfunction, valvular lesions, bradycardia, and atrioventricular block. However, the presence of any difference in terms of P-wave dispersion (PWd) and QT dispersion (QTd) was not evaluated previously. This study prospectively investigated 100 DS patients with structurally normal hearts and 100 age- and sex-matched healthy control subjects. Standard 12-lead electrocardiograms were used to assess and compare P-wave and QT durations together with PWd and QTd. The median age of the DS patients and control subjects was 48 months. Heart rates and P-wave and QT dispersions were significantly greater in the DS group than in the control group (113 ± 22.9 vs 98.8 ± 16.6 bpm, p < 0.001; 31.3 ± 9.5 vs 24 ± 8.6 ms, p < 0.001; and 46.6 ± 15.9 vs 26 ± 9.1 ms, p < 0.001, respectively). A positive correlation was found between PWd and age in the DS patients (p < 0.05; r = 0.2). All children with DS should be followed up carefully with electrocardiography in terms of increased P-wave and QT dispersions even in the absence of concomitant congenital heart disease for management of susceptibility to arryhthmias.

  15. A survey to evaluate the management of orthodontic patients with a history of rheumatic fever or congenital heart disease.

    Science.gov (United States)

    Gaidry, D; Kudlick, E M; Hutton, J G; Russell, D M

    1985-04-01

    A survey concerning the orthodontic management of patients with a history of rheumatic fever or congenital heart disease was mailed to a random sample of 500 orthodontists throughout the United States. Two hundred thirty-two surveys were completed and returned. Analysis revealed that 88% of the respondents were aware that they should screen for patients with a history of rheumatic fever or congenital heart disease, only 11% used the antibiotic regimen recommended in 1977 by the American Heart Association (see Fig. 2), one half of the respondents thought it was necessary to provide antibiotic coverage during banding, and 38% deemed it necessary for debanding procedures which were likely to cause some degree of bleeding from the gingival sulcus. Only one half of the respondents would discontinue treatment if a condition of gingivitis developed which did not show signs of improvement, and only 70% provided medication for orthodontic procedures that could result in bacteremia. Furthermore, the results of this survey indicated that there was a great variation in the antibiotic regimen of orthodontic treatment for patients at risk of developing endocarditis and that there was a need to make the orthodontist more aware of the 1977 recommendations of the American Heart Association. Finally, a comparison between the year of graduation from an orthodontic program and the number of respondents who did not screen for or did not premedicate at-risk patients revealed a direct relationship. The earlier the education, the smaller the number of respondents who screened or premedicated.(ABSTRACT TRUNCATED AT 250 WORDS)

  16. Evaluation of regulatory genetic variants in POU5F1 and risk of congenital heart disease in Han Chinese

    Science.gov (United States)

    Lin, Yuan; Ding, Chenyue; Zhang, Kai; Ni, Bixian; da, Min; Hu, Liang; Hu, Yuanli; Xu, Jing; Wang, Xiaowei; Chen, Yijiang; Mo, Xuming; Cui, Yugui; Shen, Hongbing; Sha, Jiahao; Liu, Jiayin; Hu, Zhibin

    2015-10-01

    OCT4 is a transcription factor of the POU family, which plays a key role in embryonic development and stem cell pluripotency. Previous studies have shown that Oct4 is required for cardiomyocyte differentiation in mice and its depletion could result in cardiac morphogenesis in embryo. However, whether the genetic variations in OCT4 coding gene, POU5F1, confer the predisposition to congenital heart disease (CHD) is unclear. This study sought to investigate the associations between low-frequency (defined here as having minor allele frequency (MAF) between 0.1%-5%) and rare (MAF below 0.1%) variants with potential function in POU5F1 and risk of CHD. We conducted association analysis in a two-stage case-control study with a total of 2,720 CHD cases and 3,331 controls in Chinese. The low-frequency variant rs3130933 was observed to be associated with a significantly increased risk of CHD [additive model: adjusted odds ratio (OR) = 2.15, adjusted P = 3.37 × 10-6]. Furthermore, luciferase activity assay showed that the variant A allele led to significantly lower expression levels as compared to the G allele. These findings indicate for the first time that low-frequency functional variant in POU5F1 may contribute to the risk of congenital heart malformations.

  17. Perinatal Outcome of Obvious Congenital Malformation as seen at ...

    African Journals Online (AJOL)

    15.8, per 1000 total births, while the contribution of such malformations to perinatal mortality was 11.9 per cent. Gastrointestinal, central nervous and musculo-skeletal system malforma- tions were the commonest seen With individual incidences of 3.9, 3.5 and 2.1 per 1000 total births, respectively. Unclassified congenital ...

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

    African Journals Online (AJOL)

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

  19. Gastrointestinal Polyps in Children

    OpenAIRE

    Wang, Li-Chun; Lee, Hung-Chang; Yeung, Chun-Yan; Chan, Wai-Tao; Jiang, Chuen-Bin

    2009-01-01

    Gastrointestinal polyps are common in children. The purpose of this study was to review the clinical manifestations, diagnostic procedures, endoscopic findings, management, pathology, and recurrence of gastrointestinal polyps in children at Mackay Memorial Hospital. Methods: We retrospectively reviewed the charts of 50 children with a diagnosis of gastrointestinal polyps managed at Mackay Memorial Hospital between January 1984 and April 2007. Demographic data; clinical features; polyp size...

  20. Osteoporosis and Gastrointestinal Disease

    OpenAIRE

    Katz, Seymour; Weinerman, Stuart

    2010-01-01

    Gastrointestinal disease is often overlooked or simply forgotten as a cause of osteoporosis. Yet, the consequences of osteoporotic fractures can be devastating. Although the bulk of the published experience regarding osteoporosis is derived from the postmenopausal population, this review will focus on gastrointestinal disorders implicated in osteoporosis, with an emphasis on inflammatory bowel disease and celiac disease. The unique aspects of gastrointestinal diseases associated with osteopor...

  1. Use of micro-lightguide spectrophotometry for evaluation of microcirculation in the small and large intestines of horses without gastrointestinal disease.

    Science.gov (United States)

    Reichert, Christof; Kästner, Sabine B R; Hopster, Klaus; Rohn, Karl; Rötting, Anna K

    2014-11-01

    To evaluate the use of a micro-lightguide tissue spectrophotometer for measurement of tissue oxygenation and blood flow in the small and large intestines of horses under anesthesia. 13 adult horses without gastrointestinal disease. Horses were anesthetized and placed in dorsal recumbency. Ventral midline laparotomy was performed. Intestinal segments were exteriorized to obtain measurements. Spectrophotometric measurements of tissue oxygenation and regional blood flow of the jejunum and pelvic flexure were obtained under various conditions that were considered to have a potential effect on measurement accuracy. In addition, arterial oxygen saturation at the measuring sites was determined by use of pulse oximetry. 12,791 single measurements of oxygen saturation, relative amount of hemoglobin, and blood flow were obtained. Errors occurred in 381 of 12,791 (2.98%) measurements. Most measurement errors occurred when surgical lights were directed at the measuring site; covering the probe with the surgeon's hand did not eliminate this error source. No measurement errors were observed when the probe was positioned on the intestinal wall with room light, at the mesenteric side, or between the mesenteric and antimesenteric side. Values for blood flow had higher variability, and this was most likely caused by motion artifacts of the intestines. The micro-lightguide spectrophotometry system was easy to use on the small and large intestines of horses and provided rapid evaluation of the microcirculation. Results indicated that measurements should be performed with room light only and intestinal motion should be minimized.

  2. [Congenital hypothyroidism].

    Science.gov (United States)

    Castilla Peón, María Fernanda

    Congenital hypothyroidism (CH) is a cause of preventable mental retardation; therefore, timely diagnosis and treatment by the primary care physician is very important. CH screening must be performed between the second and fifth days of life with capillary blood done with a heel prick and must be confirmed by measurement of thyroid hormones in venous blood. The most common cause of CH is thyroid dysgenesis, which may be identified by a thyroid scan carried out before initiating treatment. Treatment should be with levothyroxine (10-15μg/kg/day) and should not be delayed or suspended during the first 3 years of life due to the deleterious effect on neurodevelopment in case of low thyroid hormones during this time. Preterm or sick infants or those with Down syndrome require special consideration. This article provides diagnostic and therapeutic algorithms for CH. Copyright © 2015 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  3. Torcicolo congênito: avaliação de dois tratamentos fisioterapêuticos Congenital torticollis: evaluation of two physiotherapeutic approaches

    Directory of Open Access Journals (Sweden)

    Luciane Zanusso Pagnossim

    2008-09-01

    Full Text Available OBJETIVO: Avaliar a evolução clínica e comparar a eficácia do tratamento fisioterapêutico intensivo ou mínimo, em neonatos e lactentes com torcicolo congênito. MÉTODOS: Foram atendidas no Ambulatório de Fisioterapia e Cirurgia Pediátrica do Hospital de Clínicas da Universidade Estadual de Campinas 47 crianças com torcicolo congênito. Analisaram-se, retrospectivamente, antecedentes maternos, neonatais, apresentação clínica e tratamento fisioterapêutico, classificado de acordo com a freqüência das sessões. O tratamento intensivo foi definido como sessões de fisioterapia realizadas pelo fisioterapeuta no ambulatório, acrescidas de exercícios diários realizados pelos pais em domicílio. O tratamento mínimo foi considerado quando apenas o fisioterapeuta realizava as sessões semanalmente no ambulatório, sem a participação dos pais. RESULTADOS: Quanto às características demográficas da população, observou-se: idade média materna=26 anos; parto normal=40 (85%; mães primigestas=35 (75%; idade média ao diagnóstico=50 dias. A presença de nódulo intramuscular foi notada em 46 (98% pacientes. As seguintes doenças estiveram associadas: luxação congênita de quadril igual=4 (8%; fratura de clavícula=2 (4%; pé torto congênito=1 (2%. O tratamento intensivo foi realizado em 34 (72% pacientes e a cura observada em 100%, após 74 dias, em média. O tratamento mínimo foi aplicado em 13 (28% pacientes e a cura observada em dez (77%, tratados em média por 130 dias. CONCLUSÕES: O torcicolo congênito apresentou evolução clínica favorável em ambos os grupos. O tratamento intensivo propiciou maior índice de cura em menor tempo de tratamento.OBJECTIVE: To evaluate the clinical course and to compare the effectiveness of physiotherapeutic treatment performed daily or once a week in newborns and infants with congenital torticollis. METHODS: 47 patients with congenital torticollis were assisted at the Physiotherapy and

  4. Factors affecting subjective appearance evaluations among patients with congenital craniofacial conditions: An application of Cash's cognitive-behavioural model of body image development.

    Science.gov (United States)

    Feragen, Kristin Billaud; Stock, Nicola Marie

    2018-01-30

    Satisfaction with appearance is of central importance for psychological well-being and health. For individuals with an unusual appearance, such as congenital craniofacial anomalies (CFA), appearance evaluations could be especially important. However, few, if any papers have presented a comprehensive synthesis of the factors found to affect subjective satisfaction with appearance among children, adolescents, and adults born with a CFA. Further, only a handful of craniofacial studies have applied psychological theories or models to their findings, resulting in an overall lack of guidance for researchers in the field. This paper summarises the literature pertaining to satisfaction with appearance among those affected by CFAs, and examines the extent to which Cash's cognitive-behavioural model of body image development (2012) fits with this literature. Given the overlap between factors of interest in the field of CFAs, and in the area of body image more broadly, a closer collaboration between the two research fields is suggested. Copyright © 2018 Elsevier Ltd. All rights reserved.

  5. Congenital adrenal hyperplasia

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000411.htm Congenital adrenal hyperplasia To use the sharing features on this page, please enable JavaScript. Congenital adrenal hyperplasia is the name given to a group of ...

  6. Congenital Heart Information Network

    Science.gov (United States)

    ... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

  7. Congenital multiple arthrogryposis in bovine

    Directory of Open Access Journals (Sweden)

    D.P. Vrisman

    Full Text Available ABSTRACT This report describes an anal atresia, anatomical urethra alteration (slightly caudal to the udder, thickened joints, and changes in the pelvis in a newborn Holstein cow. Visualization of the final portion of the rectum was not possible by perineal access and laparotomy through the right flank was performed in order for abdominal exploration and colostomy attempt. During the surgical procedure visceral rupture and malformations incompatible with life were observed, so surgeons opted for euthanasia and necropsy. Alterations were confirmed in the genitourinary and gastrointestinal tract. The non-formation of the anus caused dilation of the distal portion of the rectum with fecal content retention, which was drained to the body of the uterus, with the presence of meconium. This amount of anatomical and clinical changes were diagnosed as congenital multiple arthrogryposis.

  8. Gestational and congenital syphilis.

    Science.gov (United States)

    Wendel, G D

    1988-06-01

    The frequency of congenital syphilis continues to increase throughout the United States during the 1980s. Untreated maternal infection can lead to stillbirth, premature labor, congenital infection, and neonatal death. Preventive measures, based on control of early syphilis in women, prenatal care, improved diagnosis and diligent followup, can help to decrease the incidence of congenital syphilis. The clinical presentation and recommended regimens for therapy of the gravida with syphilis and neonates with suspected congenital syphilis are reviewed.

  9. In vitro evaluation of gastrointestinal survival of Lactobacillus amylovorus DSM 16698 alone and combined with galactooligosaccharides, milk and/or Bifidobacterium animalis subsp. lactis Bb-12.

    Science.gov (United States)

    Martinez, Rafael C R; Aynaou, Azz-Eddine; Albrecht, Simone; Schols, Henk A; De Martinis, Elaine C P; Zoetendal, Erwin G; Venema, Koen; Saad, Susana M I; Smidt, Hauke

    2011-09-15

    Probiotic properties of Lactobacillus amylovorus DSM 16698 were previously demonstrated in piglets. Here, its potential as a human probiotic was studied in vitro, using the TIM-1 system, which is fully validated to simulate the human upper gastrointestinal tract. To evaluate the effect of the food matrix composition on the survival of L. amylovorus DSM 16698 in TIM-1, the microorganism was inoculated alone or with prebiotic galactooligosaccharides (GOS), partially skimmed milk (PSM) and/or commercial probiotic Bifidobacterium animalis subsp. lactis Bb-12 (Bb-12). Samples were collected from TIM-1 for six hours, at one-hour intervals and L. amylovorus populations were enumerated on MRS agar plates with confirmation of identity of selected isolates by randomly amplified polymorphic DNA (RAPD) fingerprinting. The cumulative survival for L. amylovorus alone (control) was 30% at the end of the experiment (t=6h). Co-administration of L. amylovorus with GOS, PSM and/or Bb-12 increased its survival in comparison with the control significantly from the 4th hour after ingestion onwards (P<0.05). Furthermore, by the use of High Performance Anion Exchange Chromatography, both L. amylovorus and Bb-12 were observed to promptly degrade GOS compounds in samples collected from TIM-1, as assessed at t=2h. Hence, food matrix composition interfered with survival and growth of L. amylovorus during passage through TIM-1, providing leads towards optimization of probiotic properties in vivo. Copyright © 2011 Elsevier B.V. All rights reserved.

  10. Evaluation of repeated dose micronucleus assays of the liver and gastrointestinal tract using potassium bromate: a report of the collaborative study by CSGMT/JEMS.MMS.

    Science.gov (United States)

    Okada, Emiko; Fujiishi, Yohei; Narumi, Kazunori; Kado, Shoichi; Wako, Yumi; Kawasako, Kazufumi; Kaneko, Kimiyuki; Ohyama, Wakako

    2015-03-01

    The food additive potassium bromate (KBrO3) is known as a renal carcinogen and causes chromosomal aberrations in vitro without metabolic activation and in vivo in hematopoietic and renal cells. As a part of a collaborative study by the Mammalian Mutagenicity Study group, which is a subgroup of the Japanese Environmental Mutagen Society, we administered KBrO3 to rats orally for 4, 14, and 28 days and examined the micronucleated (MNed) cell frequency in the liver, glandular stomach, colon, and bone marrow to confirm whether the genotoxic carcinogen targeting other than liver and gastrointestinal (GI) tract was detected by the repeated dose liver and GI tract micronucleus (MN) assays. In our study, animals treated with KBrO3 showed some signs of toxicity in the kidney and/or stomach. KBrO3 did not increase the frequency of MNed cells in the liver and colon in any of the repeated dose studies. However, KBrO3 increased the frequency of MNed cells in the glandular stomach and bone marrow. Additionally, the MNed cell frequency in the glandular stomach was not significantly affected by the difference in the length of the administration period. These results suggest that performing the MN assay using the glandular stomach, which is the first tissue to contact agents after oral ingestion, is useful for evaluating the genotoxic potential of chemicals and that the glandular stomach MN assay could be integrated into general toxicity studies. Copyright © 2014 Elsevier B.V. All rights reserved.

  11. Endoscopic Evaluation of the Upper Gastrointestinal Tract is Worthwhile in Premenopausal Women with Iron-Deficiency Anaemia Irrespective of Menstrual Flow.

    Science.gov (United States)

    Annibale, B; Lahner, E; Chistolini, A; Gallucci, C; Di Giulio, E; Capurso, G; Luana, O; Monarca, B; Fave, G Delle

    2003-03-01

    In premenopausal women, iron-deficiency anaemia is common and menstrual flow is often held responsible, but it is not clear whether these women should be submitted to gastrointestinal (GI) evaluation. We aim to prospectively investigate whether premenopausal women with iron-deficiency anaemia benefit from GI evaluation regardless of menstrual flow. The study population comprised 59 consecutive premenopausal women with iron-deficiency anaemia. Excluded were women with obvious or suspected causes of anaemia and those ≤21 years. Heavy menstrual loss was not considered an exclusion criterion. All subjects had: complete blood count, ferritin, non-invasive testing by faecal occult blood (FOB), 13 C-urea breath test ( 13 C-UBT), anti-tissue transglutaminase antibodies (tTG) and gastrin levels. Gastroscopy with antral (n = 3), corporal (n = 3) and duodenal (n = 2) biopsies was performed in women with positive 13 C-UBT or tTG titre or hypergastrinaemia. Heavy menstrual loss was present in 50.8%. Non-invasive tests were positive in 40/59 (67.8%): 30 had positive 13 C-UBT, 12 had hypergastrinaemia, 7 had positive tTG and 3 had positive FOB. Women tested positive were similar to those tested negative as far as concerned age, haemoglobin and ferritin levels and heavy menstrual flow (55% versus 42.1%). All 40 women tested positive underwent gastroscopy with biopsies. Four (10%) had bleeding-associated lesions and 34 (85%) had non-bleeding-associated lesions. As regards upper GI findings, no differences were observed between women with normal and those with heavy menstrual flow. No lower GI tract lesions were detected in the three women with positive FOB. Our data suggest that premenopausal women with iron-deficiency anaemia benefit from endoscopic evaluation of the upper GI tract irrespective of menstrual flow.

  12. Evaluación económica del tratamiento con ácido acetilsalicílico más esomeprazol comparado con clopidogrel en la prevención de la hemorragia gastrointestinal Economic evaluation of the treatment of aspirin plus esomeprazole compared to clopidogrel in gastrointestinal bleeding prevention

    Directory of Open Access Journals (Sweden)

    Carme Piñol

    2006-02-01

    Full Text Available Objetivo: Evaluar la eficiencia del ácido acetilsalicílico (AAS más esomeprazol frente a clopidogrel en la prevención de la hemorragia gastrointestinal. Métodos: Análisis coste-efectividad (árbol de decisión de 2 ramas: AAS más esomeprazol y clopidogrel respecto a la evitación de casos de hemorragia gastrointestinal en 2 años, y análisis de sensibilidad. Resultados: El coste total del tratamiento con AAS más esomeprazol (2.865 S por paciente libre de hemorragia fue inferior al clopidogrel (2.965 S. El tratamiento con AAS resultó dominante. En todos los análisis de sensibilidad la combinación siguió siendo dominante. Al sustituir esomeprazol 40 mg por omeprazol 40 mg, el coste del tratamiento combinado descendió hasta 1.934S/por episodio evitado. Conclusiones: La asociación de esomeprazol y AAS es más coste-efectiva que clopidogrel en la prevención de la hemorragia gastrointestinal. La combinación con omeprazol resulta aún más coste-efectiva.Objective: To evaluate the use of aspirin plus esomeprazole vs. clopidogrel in the prevention of gastrointestinal bleeding. Methods: We performed a cost-effectiveness analysis (two-branch decision tree: aspirin plus esomeprazole or clopidogrel of prevention of gastrointestinal bleeding over a 2-year period, as well as sensitivity analyses. Results: The total cost of aspirin plus esomeprazole treatment (2,865S/patient free of hemorrhage was lower than that of clopidogrel (2,965S. Aspirin treatment was dominant. The combination continued to be dominant in all sensitivity analyses. When esomeprazole 40 mg was substituted by omeprazole 40 mg, the cost of combination therapy decreased to 1,934 S/prevented hemorrhage. Conclusions: The association of esomeprazole and aspirin is more cost-effective than clopidogrel in preventing gastrointestinal bleeding. Aspirin plus omeprazole was even more cost-effective.

  13. [Congenital malformations in teenage pregnancy].

    Science.gov (United States)

    Sirakov, M

    2012-01-01

    This review brings clear evidence of a link between the young maternal age and the higher incidence of complications recorded, both during pregnancy and during labor. It was found that pregnancy in very young age was associated with increased risk of fetal abnormalities affecting the central nervous system, gastrointestinal and muscles-skeletal system. The anomalies of the central nervous system were most commonly found. They were not severe. A higher incidence of birth of babies with neural tube defects or congenital heart diseases was registered. The reasons for the observed anomalies in early pregnancy remain unclear. There is insufficient information about the link between congenital anomalies and use of tobacco or alcohol use by very young mothers. Some correlations were registered between risk factors such as body mass index before pregnancy, the folic acid and other multivitamin needs before and during pregnancy, as well as social factors such as lack of support, isolation from peers and/or family, financial pressures, social attitudes, etc.

  14. Evaluation of Ocular Gene Therapy in an Italian Patient Affected by Congenital Leber Amaurosis Type 2 Treated in Both Eyes.

    Science.gov (United States)

    Testa, Francesco; Maguire, Albert M; Rossi, Settimio; Marshall, Kathleen; Auricchio, Alberto; Melillo, Paolo; Bennett, Jean; Simonelli, Francesca

    2016-01-01

    Gene therapy clinical trials with gene augmentation therapy for Leber Congenital Amaurosis have shown partial reversal of retinal dysfunction. Most studies described the effect of treatment in a single eye and limited evidence is reported in literature about patients treated in both eyes. In this chapter, we present the findings of a young patient treated in both eyes. Efficacy of the treatment was assessed with Best Corrected Visual Acuity, Goldman Visual Field testing, Esterman computerized binocular visual field and Microperimetric testing. Post-treatment results showed improvement of visual function in both eyes, in particular, a strong amelioration was observed after the first injection, by using conventional monocular tests. Moreover, the treatment in the second eye resulted in a further improvement of binocular visual functionality, as easily detected by computerized binocular visual field. In conclusion, our data suggest that gene therapy can inhibit retinal degeneration and can be safe and effective in restoring visual functionality in young subjects treated in both eyes. Finally, new outcome measurements, in particular binocular computerized visual field parameters, can therefore be useful to quantify overall visual gain in patients undergoing gene therapy in both eyes.

  15. Is Congenital Syphilis Really Congenital Syphilis?

    OpenAIRE

    Yi Li; Bernard Gonik

    2006-01-01

    Detroit has recently been distinguished as having the highest congenital syphilis rate in the United States (250.3 cases per 100 000 live births in Detroit versus 10.3 in the US). However, depending on each health department's followup and CDC reporting, these data may not accurately reflect the true congenital syphilis rate. This study examines the reported cases over a three-year time period with focus on the criteria used for diagnosis. All local health department congenital syphilis C...

  16. Osteoporosis and gastrointestinal disease.

    Science.gov (United States)

    Katz, Seymour; Weinerman, Stuart

    2010-08-01

    Gastrointestinal disease is often overlooked or simply forgotten as a cause of osteoporosis. Yet, the consequences of osteoporotic fractures can be devastating. Although the bulk of the published experience regarding osteoporosis is derived from the postmenopausal population, this review will focus on gastrointestinal disorders implicated in osteoporosis, with an emphasis on inflammatory bowel disease and celiac disease. The unique aspects of gastrointestinal diseases associated with osteoporosis include early onset of disease (and, therefore, prolonged exposure to risk factors for developing osteoporosis, particularly with inflammatory bowel disease and celiac disease), malabsorption, and maldigestion of nutrients necessary for bone health and maintenance (eg, calcium, vitamin D), as well as the impact of glucocorticoids. These factors, when added to smoking, a sedentary lifestyle, hypogonadism, and a family history of osteoporosis, accumulate into an imposing package of predictors for osteoporotic fracture. This paper will review the identification and treatment strategies for patients with gastrointestinal disorders and osteoporosis.

  17. Quantitative Evaluation of the Compatibility Effects of Huangqin Decoction on the Treatment of Irinotecan-Induced Gastrointestinal Toxicity Using Untargeted Metabolomics

    Directory of Open Access Journals (Sweden)

    Zun-Jian Zhang

    2017-04-01

    Full Text Available Huangqin decoction (HQD, a traditional Chinese medicine (TCM, has been widely used to treat gastrointestinal syndrome in China for thousands of years. Chemotherapy drug irinotecan (CPT-11 is used clinically to treat various kinds of cancers but limited by its side effects, especially delayed diarrhea. Nowadays, HQD has been proved to be effective in attenuating the intestinal toxicity induced by CPT-11. HQD consists of four medicinal herbs including Scutellaria baicalensis Georgi, Glycyrrhiza uralensis Fisch, Paeonia lactiflora Pall, and Ziziphus jujuba Mill. Due to its complexity, the role of each herb and the multi-herb synergistic effects of the formula are poorly understood. In order to quantitatively assess the compatibility effects of HQD, mass spectrometry-based untargeted metabolomics studies were performed. The serum metabolic profiles of rats administered with HQD, single S. baicalensis decoction, S. baicalensis-free decoction and baicalin/baicalein combination were compared. A time-dependent trajectory upon principal component analysis was firstly used to visualize the overall differences. Then metabolites deregulation score and relative area under the curve were calculated and used as parameters to quantitatively evaluate the compatibility effects of HQD from the aspect of global metabolic profile and the specifically altered metabolites, respectively. The collective results indicated that S. baicalensis played a crucial role in the therapeutic effect of HQD on irinotecan-induced diarrhea. Both HQD and SS decoction regulated glycine, serine and threonine pathway. This study demonstrated that metabolomics was a promising tool to elucidate the compatibility effects of TCM or combinatorial drugs.

  18. Evaluation of the NanoCHIP® Gastrointestinal Panel (GIP Test for Simultaneous Detection of Parasitic and Bacterial Enteric Pathogens in Fecal Specimens.

    Directory of Open Access Journals (Sweden)

    Shifra Ken Dror

    Full Text Available Infectious gastroenteritis is a global health problem associated with high morbidity and mortality rates. Rapid and accurate diagnosis is crucial to allow appropriate and timely treatment. Current laboratory stool testing has a long turnaround time (TAT and demands highly qualified personnel and multiple techniques. The need for high throughput and the number of possible enteric pathogens compels the implementation of a molecular approach which uses multiplex technology, without compromising performance requirements. In this work we evaluated the feasibility of the NanoCHIP® Gastrointestinal Panel (GIP (Savyon Diagnostics, Ashdod, IL, a molecular microarray-based screening test, to be used in the routine workflow of our laboratory, a big outpatient microbiology laboratory. The NanoCHIP® GIP test provides simultaneous detection of nine major enteric bacteria and parasites: Campylobacter spp., Salmonella spp., Shigella spp., Giardia sp., Cryptosporidium spp., Entamoeba histolytica, Entamoeba dispar, Dientamoeba fragilis, and Blastocystis spp. The required high-throughput was obtained by the NanoCHIP® detection system together with the MagNA Pure 96 DNA purification system (Roche Diagnostics Ltd., Switzerland. This combined system has demonstrated a higher sensitivity and detection yield compared to the conventional methods in both, retrospective and prospective samples. The identification of multiple parasites and bacteria in a single test also enabled increased efficiency of detecting mixed infections, as well as reduced hands-on time and work load. In conclusion, the combination of these two automated systems is a proper response to the laboratory needs in terms of improving laboratory workflow, turn-around-time, minimizing human errors and can be efficiently integrated in the routine work of the laboratory.

  19. Evaluation of the NanoCHIP® Gastrointestinal Panel (GIP) Test for Simultaneous Detection of Parasitic and Bacterial Enteric Pathogens in Fecal Specimens

    Science.gov (United States)

    Ken Dror, Shifra; Pavlotzky, Elsa; Barak, Mira

    2016-01-01

    Infectious gastroenteritis is a global health problem associated with high morbidity and mortality rates. Rapid and accurate diagnosis is crucial to allow appropriate and timely treatment. Current laboratory stool testing has a long turnaround time (TAT) and demands highly qualified personnel and multiple techniques. The need for high throughput and the number of possible enteric pathogens compels the implementation of a molecular approach which uses multiplex technology, without compromising performance requirements. In this work we evaluated the feasibility of the NanoCHIP® Gastrointestinal Panel (GIP) (Savyon Diagnostics, Ashdod, IL), a molecular microarray-based screening test, to be used in the routine workflow of our laboratory, a big outpatient microbiology laboratory. The NanoCHIP® GIP test provides simultaneous detection of nine major enteric bacteria and parasites: Campylobacter spp., Salmonella spp., Shigella spp., Giardia sp., Cryptosporidium spp., Entamoeba histolytica, Entamoeba dispar, Dientamoeba fragilis, and Blastocystis spp. The required high-throughput was obtained by the NanoCHIP® detection system together with the MagNA Pure 96 DNA purification system (Roche Diagnostics Ltd., Switzerland). This combined system has demonstrated a higher sensitivity and detection yield compared to the conventional methods in both, retrospective and prospective samples. The identification of multiple parasites and bacteria in a single test also enabled increased efficiency of detecting mixed infections, as well as reduced hands-on time and work load. In conclusion, the combination of these two automated systems is a proper response to the laboratory needs in terms of improving laboratory workflow, turn-around-time, minimizing human errors and can be efficiently integrated in the routine work of the laboratory. PMID:27447173

  20. Congenital infantile fibrosarcoma of the lip.

    Science.gov (United States)

    Bellfield, Edward J; Beets-Shay, Linda

    2014-01-01

    Infantile congenital fibrosarcomas are rare neoplasms that usually present on the extremities, and although they are locally invasive, they rarely metastasize. They are commonly misdiagnosed as hemangiomas or other vascular tumors, so further evaluation by pathology is required for proper diagnosis. We describe a newborn with a neoplastic growth of the lower lip that was thought to be an infantile hemangioma that did not respond to therapy. When the child was 2 months old, an incisional biopsy demonstrated a fibrosarcoma. This case highlights congenital infantile fibrosarcoma as a mimic of infantile hemangioma. To our knowledge this is first case report of congenital infantile fibrosarcoma involving the lip. © 2013 Wiley Periodicals, Inc.

  1. Bone-anchored hearing aids in patients with acquired and congenital unilateral inner ear deafness (Baha CROS): clinical evaluation of 56 cases.

    Science.gov (United States)

    Hol, Myrthe K S; Kunst, Sylvia J W; Snik, Ad F M; Bosman, Arjan J; Mylanus, Emmanuel A M; Cremers, Cor W R J

    2010-07-01

    We performed an evaluation of the audiological and subjective benefits of the bone-anchored hearing aid (Baha) as a device for transcranial routing of sound (Baha CROS) in 56 patients with unilateral inner ear deafness. We performed a prospective clinical follow-up study in a tertiary referral center. Previously reported results of 29 patients were supplemented with a second series of 30 patients with unilateral inner ear deafness; 3 patients dropped out during the evaluation. Audiometric measurements were taken before and after Baha CROS fitting. Subjective benefits were quantified with 4 different patient questionnaires. The sound localization results in a well-structured test setting were not differentiable from chance. The 5 patients with congenital hearing loss showed better scores in the unaided sound localization measurements. Overall, most patients reported some subjective improvement in their capacity to localize sounds with the Baha CROS in daily life. The main effect of the Baha CROS was to alleviate the head shadow effect during the speech-in-noise test. Poor sound localization in this larger series of patients confirms the findings of previous studies. Improvements in the speech-in-noise scores corroborated the efficacy of the Baha CROS in alleviating the head shadow effect. The 4 different patient questionnaires revealed subjective benefit and satisfaction in various domains.

  2. Clinical manifestations of congenital aniridia.

    Science.gov (United States)

    Singh, Bhupesh; Mohamed, Ashik; Chaurasia, Sunita; Ramappa, Muralidhar; Mandal, Anil Kumar; Jalali, Subhadra; Sangwan, Virender S

    2014-01-01

    To study the various clinical manifestations associated with congenital aniridia in an Indian population. In this retrospective, consecutive, observational case series, all patients with the diagnosis of congenital aniridia seen at the institute from January 2005 to December 2010 were reviewed. In all patients, the demographic profile, visual acuity, and associated systemic and ocular manifestations were studied. The study included 262 eyes of 131 patients with congenital aniridia. Median patient age at the time of initial visit was 8 years (range: 1 day to 73 years). Most cases were sporadic and none of the patients had parents afflicted with aniridia. The most common anterior segment abnormality identified was lenticular changes. Cataract was the predominant lens finding, observed in 93 of 231 (40.3%) phakic eyes. Other lens abnormalities were subluxation, coloboma, posterior lenticonus, and microspherophakia. Corneal involvement of varying degrees was seen in 157 of 262 (59.9%) eyes, glaucoma was identified in 95 of 262 (36.3%) eyes, and foveal hypoplasia could be assessed in 230 of 262 (87.7%) eyes. Median age when glaucoma and cataract were noted was 7 and 14 years, respectively. None of the patients had Wilm's tumor. Congenital aniridia was commonly associated with classically described ocular features. However, systemic associations were characteristically absent in this population. Notably, cataract and glaucoma were seen at an early age. This warrants a careful evaluation and periodic follow-up in these patients for timely identification and appropriate management. Copyright 2014, SLACK Incorporated.

  3. Giant Congenital Melanocytic Nevus

    DEFF Research Database (Denmark)

    Rasmussen, Bo Sonnich; Henriksen, Trine Foged; Kølle, Stig-Frederik Trojahn

    2015-01-01

    % versus 44% required unplanned additional surgery, respectively. Complications were noted in 25% and 67% of the patients, respectively. Cosmetic result was satisfying in 76% of patients without difference between the groups. No malignant transformation was found during a mean follow-up of 11 years......Giant congenital melanocytic nevi (GCMN) occur in 1:20,000 livebirths and are associated with increased risk of malignant transformation. The treatment of GCMN from 1981 to 2010 in a tertiary referral center was reviewed evaluating the modalities used, cosmetic results, associated complications......, and malignant transformation. Of 35 patients, 25 underwent surgery. Curettage was most frequently used (64%) followed by excision and tissue expansion (20%). Six percent of the patients treated with curettage, and 78% of the patients who received excision surgery required more than 1 planned procedure, and 25...

  4. The role of computerized tomography in the evaluation of gastrointestinal bleeding following negative or failed endoscopy: a review of current status.

    Science.gov (United States)

    Stunell, H; Buckley, O; Lyburn, I D; McGann, G; Farrell, M; Torreggiani, W C

    2008-01-01

    Gastrointestinal bleeding remains an important cause for emergency hospital admission with a significant related morbidity and mortality. Bleeding may relate to the upper or lower gastrointestinal tracts and clinical history and examination may guide investigations to the more likely source of bleeding. The now widespread availability of endoscopic equipment has made a huge impact on the rapid identification of the bleeding source. However, there remains a large group of patients with negative or failed endoscopy, in whom additional techniques are required to identify the source of bleeding. In the past, catheter angiography and radionuclide red cell labeling techniques were the preferred 'next step' modalities used to aid in identifying a bleeding source within the gastrointestinal tract. However, these techniques are time-consuming and of limited sensitivity and specificity. In addition, catheter angiography is a relatively invasive procedure. In recent years, computerized tomography (CT) has undergone major technological advances in its speed, resolution, multiplanar techniques and angiographic abilities. It has allowed excellent visualization of the both the small and large bowel allowing precise anatomical visualization of many causes of gastrointestinal tract (GIT) bleeding. In addition, recent advances in multiphasic imaging now allow direct visualization of bleeding into the bowel. In many centers CT has therefore become the 'next step' technique in identifying a bleeding source within the GIT following negative or failed endoscopy in the acute setting. In this review article, we review the current literature and discuss the current status of CT as a modality in investigating the patient with GIT bleeding.

  5. Comparative evaluation of the efficiency of radio-protectors on the basis of criteria of the protection of bone marrow and the gastrointestinal tract

    Energy Technology Data Exchange (ETDEWEB)

    Piatovskaia, N.N.; Brumberg, I.E.

    1982-03-01

    Gamma-ray experiments on mice have shown that, unlike cystamine, 4-aminobenzo-2,1,3-thiadiazol has a radio-protective effect on the haemopoietic tissue and fails to protect the gastrointestinal tract. In the bone marrow, this preparation is effective only in regard to stem cells.

  6. Feline Gastrointestinal Adenocarcinoma: A Review and Retrospective Study

    OpenAIRE

    Cribb, Alastair E.

    1988-01-01

    Feline gastrointestinal adenocarcinomas are the most common nonhematopoietic gastrointestinal tumors in cats. They are highly malignant tumors causing intestinal obstruction due to the annular, stenosing nature to their growth. Current literature is largely based on surveys of pathology records. Therefore, a retrospective study was conducted to evaluate clinical course and prognosis with surgical excision of the tumor. In published reports feline gastrointestinal adenocarcinoma represented 20...

  7. Massive gastrointestinal bleed due to multiple gastric neuroendocrine tumors

    Directory of Open Access Journals (Sweden)

    Vishal Sharma

    2015-01-01

    Full Text Available Gastric neuroendocrine tumors (G-NETs are uncommon lesions which are usually diagnosed on histological evaluation of gastric polyps. These may occur sporadically or due to hypergastrinemia in the setting of atrophic gastritis or Zollinger-Ellison Syndrome. Large lesions may ulcerate and result in gastrointestinal bleeding. However, massive gastrointestinal bleeding is rare in patients with NETs. We report a 60-year-old lady who presented with massive gastrointestinal bleeding due to multiple G-NETs.

  8. Gastrointestinal Dysfunction in Patients with Duchenne Muscular Dystrophy

    OpenAIRE

    Lo Cascio, Christian M.; Goetze, Oliver; Latshang, Tsogyal D.; Bluemel, Sena; Frauenfelder, Thomas; Bloch, Konrad E.

    2016-01-01

    BACKGROUND In adult patients with Duchenne muscular dystrophy (DMD) life-threatening constipation has been reported. Since gastrointestinal function in DMD has not been rigorously studied we investigated objective and subjective manifestations of gastrointestinal disturbances in DMD patients. METHODS In 33 patients with DMD, age 12-41 years, eating behavior and gastrointestinal symptoms were evaluated by questionnaires. Gastric emptying half time (T1/2) and oro-cecal transit time (OCTT) we...

  9. Gastrointestinal polyps in children.

    Science.gov (United States)

    Wang, Li-Chun; Lee, Hung-Chang; Yeung, Chun-Yan; Chan, Wai-Tao; Jiang, Chuen-Bin

    2009-10-01

    Gastrointestinal polyps are common in children. The purpose of this study was to review the clinical manifestations, diagnostic procedures, endoscopic findings, management, pathology, and recurrence of gastrointestinal polyps in children at Mackay Memorial Hospital. We retrospectively reviewed the charts of 50 children with a diagnosis of gastrointestinal polyps managed at Mackay Memorial Hospital between January 1984 and April 2007. Demographic data; clinical features; polyp size, number and location; endoscopic findings; management; pathology; and information on recurrences were extracted from the clinical records. The distribution of polyps in the 50 patients included gastric (4 patients), duodenal (2), ileocecal (4) and colorectal polyps (40). All patients with gastric polyps presented with vomiting, and three of the four patients with ileocecal polyps presented with intussusception. The mean age of the 40 patients with colorectal polyps was 6.8 years. The majority of those polyps were in the rectosigmoid colon; 36 patients presented with hematochezia. Solitary polyps were identified in 33 patients and multiple polyps were identified in seven patients. Most of the colorectal polyps were less than 2cm in diameter. Histologically, the most frequent type was juvenile polyp. Gastrointestinal polyps in children are usually benign. Pediatricians treating a child with a gastrointestinal polyp should pay attention to the immediate complications of the polyps, such as intussusception or bleeding, the extraintestinal manifestations and long-term risk for malignancy.

  10. Mitochondrial disorders in congenital myopathies

    Directory of Open Access Journals (Sweden)

    D. A. Kharlamov

    2014-01-01

    Full Text Available The literature review gives data on the role of mitochondrial disorders in the pathogenesis of congenital myopathies: congenital muscular dystrophies and congenital structural myopathies. It describes changes in congenital muscular dystrophies with type VI collagen, in myodystrophy with giant mitochondria, in congenital central core myopathies, myotubular myopathy, etc. Clinical and experimental findings are presented. Approaches to therapy for energy disorders in congenital myopathies are depicted.

  11. Evaluation of the occurrence of canine congenital sensorineural deafness in puppies of predisposed dog breeds using the brainstem auditory evoked response.

    Science.gov (United States)

    Płonek, Marta; Giza, Elżbieta; Niedźwiedź, Artur; Kubiak, Krzysztof; Nicpoń, Józef; Wrzosek, Marcin

    2016-12-01

    Canine congenital sensorineural deafness (CCSD) affects predisposed breeds of dogs and is primarily caused by an atrophy of the stria vascularis of the organ of Corti. The analysis of the brainstem auditory evoked response (BAER) is a reliable method for the evaluation of hearing in animals as it allows an accurate detection of unilateral or bilateral deafness. The occurrence of unilateral and bilateral deafness using the BAER was determined in a representative group of dogs in Poland, including Bull Terriers (n = 117), Australian Cattle Dogs (n = 62), English Setters (n = 32) and the Dogo Argentino (n = 32). Overall deafness, deafness in each dog breed and an association between deafness and phenotype were studied. Among the 243 dogs tested, 156 (81%) had a normal BAER, 27 (11%) were unilaterally deaf, and 12 (5%) were bilaterally deaf. The amplitudes and latencies of waves I, II, III, V, the V/I wave amplitude ratio, and wave I-V, I-III and III-V inter-peak intervals were recorded for each dog. Unilaterally and bilaterally deaf dogs were present in all the dog breeds studied. There were 17 (14.5%) deaf Bull Terriers, three (4.8%) deaf Australian Cattle Dogs, seven (21.9%) deaf English Setters, and 12 (37.5%) deaf Dogos Argentinos. Preventive BAER screening should be routinely performed in these four breeds to prevent the spread of genes responsible for deafness.

  12. Evaluation of TSH Levels in the Program of Congenital Hypothyroidism Newborn Screening in a Pilot Study of Preterm Newborns in Bogotá, Colombia

    Directory of Open Access Journals (Sweden)

    Gustavo Adolfo Giraldo

    2015-07-01

    Full Text Available Introduction: Preterm infants (<37 weeks of gestation have low levels of thyroid hormones due to multiple factors. Objective: To evaluate levels of thyroid-stimulation hormone (TSH in the program congenital hypothyroidism (CH newborn screening in a sample of preterm infants in the city of Bogotá, Colombia. Methods: The Secretaría de Salud Distrital screening protocol for CH (blood sample is collected from the umbilical cord in all the newborns remeasured the serum TSH and heel TSH when preterm infants completed 37 weeks of gestation. Results: A total of 59 preterm neonates were rescreened, of which 2 neonates had elevated levels of TSH and 1 neonate had transient hypothyroxinemia. The Kolmogorov-Smirnov 2-sample/bilateral statistical test was used to compare the neonatal TSH levels of preterm and full-term newborns, which do not follow the same distribution. Conclusion: In our pilot study, 2 of the rescreened infants presented high levels of TSH and 1 had transient hyperthyrotropinemia, suggesting the need for rescreening of preterm infants. Additionally, a larger study should be performed to determine the screening cutoff values for preterm newborns.

  13. Obesity and gastrointestinal neoplasms

    Directory of Open Access Journals (Sweden)

    Izabela Binkowska-Borgosz

    2014-10-01

    Full Text Available Being overweight or obese is a significant public health problem in the 21st century due to its scale, common existence and its cause-effect association with multiple diseases. Excessive accumulation of adipose tissue in humans is regarded as a major risk factor for development of cardiovascular and skeletal diseases. However, data from recent years have revealed that obesity is also strongly associated with increased risk of the majority of cancers in humans, including those originating from the gastrointestinal tract. During the last few year this association has been thoroughly proven and supported by several epidemiological analyses. The authors present i the current state of knowledge regarding key (pathomechanisms that link metabolism of human adipose tissue to development/progression of neoplasms (especially in the gastrointestinal tract, as well as ii the results of selected clinical studies in which the influence of obesity on risk of gastrointestinal cancer development has been addressed.

  14. Design of a multicentre randomized controlled trial to evaluate the effectiveness of a tailored clinical support intervention to enhance return to work for gastrointestinal cancer patients.

    Science.gov (United States)

    Zaman, AnneClaire G N M; Tytgat, Kristien M A J; Klinkenbijl, Jean H G; Frings-Dresen, Monique H W; de Boer, Angela G E M

    2016-05-10

    Gastrointestinal (GI) cancer is frequently diagnosed in people of working age, and many GI cancer patients experience work-related problems. Although these patients often experience difficulties returning to work, supportive work-related interventions are lacking. We have therefore developed a tailored work-related support intervention for GI cancer patients, and we aim to evaluate its cost-effectiveness compared with the usual care provided. If this intervention proves effective, it can be implemented in practice to support GI cancer patients after diagnosis and to help them return to work. We designed a multicentre randomized controlled trial with a follow-up of twelve months. The study population (N = 310) will include individuals aged 18-63 years diagnosed with a primary GI cancer and employed at the time of diagnosis. The participants will be randomized to the intervention or to usual care. 'Usual care' is defined as psychosocial care in which work-related issues are not discussed. The intervention group will receive tailored work-related support consisting of three face-to-face meetings of approximately 30 min each. Based on the severity of their work-related problems, the intervention group will be divided into groups receiving three types of support (A, B or C). A different supportive healthcare professional will be available for each group: an oncological nurse (A), an oncological occupational physician (B) and a multidisciplinary team (C) that includes an oncological nurse, oncological occupational physician and treating oncologist/physician. The primary outcome measure is return to work (RTW), defined as the time to a partial or full RTW. The secondary outcomes are work ability, work limitations, quality of life, and direct and indirect costs. The hypothesis is that tailored work-related support for GI cancer patients is more effective than usual care in terms of the RTW. The intervention is innovative in that it combines oncological and

  15. Evaluation of residual toxic substances in the stomach using upper gastrointestinal endoscopy for management of patients with oral drug overdose on admission: a prospective, observational study.

    Science.gov (United States)

    Miyauchi, Masato; Hayashida, Makiko; Yokota, Hiroyuki

    2015-01-01

    The guidelines on the indications for gastric lavage were published in 1997, and a less-aggressive initial approach has been used for poisoned patients. Clinical studies have shown that the outcomes of retrieval of residual toxic substances in the stomach are variable and that no beneficial effect is obtained. However, the presence of residual toxic substances in the stomach before gastric lavage has not been estimated. The objective of this study was to evaluate the residual stomach contents on admission of patients with oral drug overdoses using upper gastrointestinal endoscopy. A 2-year prospective study of 167 patients with oral drug overdoses was performed. Endoscopy was performed on admission to observe the gastric body, fornix, and pyloric antrum. Patients were classified into 3 groups according to the digestive phase (tablet/food phase, soluble/fluid phase, and reticular/empty phase). The groups were compared with respect to time elapsed since ingestion, and numbers and variety of orally overdosed drugs. The numbers of patients in each phase were as follows: tablet/food phase, 73; soluble/fluid phase, 50; and reticular/empty phase, 44. The tablet/food and soluble/fluid phase groups contained the greatest numbers of patients who presented within 1 to 2 hours since ingestion. In the tablet/food group, only 12 of 73 patients (16%) presented within 1 hour since ingestion, and 3 patients presented >12 hours since ingestion. In the soluble/fluid phase group, only 9 of 50 patients (18%) presented within 1 hour since ingestion, and 2 patients presented >12 hours since ingestion. The reticular/empty phase group contained the greatest number of patients presenting within 2 to 4 hours since ingestion, and 3 patients presented within 1 hour since ingestion. The residual stomach contents before lavage were variable in all of the groups. The residual gastric content before the performance of gastric lavage is variable in overdosed patients on admission. This may

  16. Efficacy of ivermectin against gastrointestinal nematodes of cattle in Denmark evaluated by different methods for analysis of faecal egg count reduction

    Directory of Open Access Journals (Sweden)

    Miguel Peña-Espinoza

    2016-12-01

    Full Text Available The efficacy of ivermectin (IVM against gastrointestinal nematodes in Danish cattle was assessed by faecal egg count reduction test (FECRT. Six cattle farms with history of clinical parasitism and avermectin use were included. On the day of treatment (Day 0, 20 naturally infected calves per farm (total n = 120 were stratified by initial faecal egg counts (FEC and randomly allocated to a treatment group dosed with 0.2 mg IVM kg−1 body weight s.c. (IVM; n = 10 or an untreated control group (CTL; n = 10. Individual FEC were obtained at Day 0 and Day 14 post-treatment and pooled faeces by group were cultured to isolate L3 for detection of Ostertagia ostertagi and Cooperia oncophora by qPCR. Treatment efficacies were analysed using the recommended WAAVP method and two open-source statistical procedures based on Bayesian modelling: ‘eggCounts’ and ‘Bayescount’. A simulation study evaluated the performance of the different procedures to correctly identify FEC reduction percentages of simulated bovine FEC data representing the observed real data. In the FECRT, reduced IVM efficacy was detected in three farms by all procedures using data from treated animals only, and in one farm according to the procedures including data from treated and untreated cattle. Post-treatment, O. ostertagi and C. oncophora L3 were detected by qPCR in faeces of treated animals from one and three herds with declared reduced IVM efficacy, respectively. Based on the simulation study, all methods showed a reduced performance when FEC aggregation increased post-treatment and suggested that a treatment group of 10 animals is insufficient for the FECRT in cattle. This is the first report of reduced anthelmintic efficacy in Danish cattle and warrants the implementation of larger surveys. Advantages and caveats regarding the use of Bayesian modelling and the relevance of including untreated cattle in the FECRT are discussed.

  17. Serum D-lactate concentrations in cats with gastrointestinal disease.

    Science.gov (United States)

    Packer, R A; Moore, G E; Chang, C-Y; Zello, G A; Abeysekara, S; Naylor, J M; Steiner, J M; Suchodolski, J S; O'Brien, D P

    2012-01-01

    Increased D-lactate concentrations cause neurological signs in humans with gastrointestinal disease. To determine if serum D-lactate concentrations are increased in cats with gastrointestinal disease compared to healthy controls, and if concentrations correlate with specific neurological or gastrointestinal abnormalities. Systematically selected serum samples submitted to the Gastrointestinal Laboratory at Texas A&M University from 100 cats with clinical signs of gastrointestinal disease and abnormal gastrointestinal function tests, and 30 healthy cats. Case-control study in which serum D- and L-lactate concentrations and retrospective data on clinical signs were compared between 30 healthy cats and 100 cats with gastrointestinal disease. Association of D-lactate concentration with tests of GI dysfunction and neurological signs was evaluated by multivariate linear and logistic regression analyses, respectively. All 100 cats had a history of abnormal gastrointestinal signs and abnormal gastrointestinal function test results. Thirty-one cats had definitive or subjective neurological abnormalities. D-lactate concentrations of cats with gastrointestinal disease (median 0.36, range 0.04-8.33 mmol/L) were significantly higher than those in healthy controls (median 0.22, range 0.04-0.87 mmol/L; P = .022). L-lactate concentrations were not significantly different between the 2 groups of cats with gastrointestinal disease and healthy controls. D-lactate concentrations were not significantly associated with fPLI, fTLI, cobalamin, folate, or neurological abnormalities (P > .05). D-lactate concentrations can be increased in cats with gastrointestinal disease. These findings warrant additional investigations into the role of intestinal microbiota derangements in cats with gastrointestinal disease, and the association of D-lactate and neurological abnormalities. Copyright © 2012 by the American College of Veterinary Internal Medicine.

  18. Supplementation strategies for gastrointestinal distress in endurance athletes

    Directory of Open Access Journals (Sweden)

    Vivian Ximeno Duarte

    2015-10-01

    Full Text Available The prevalence of gastrointestinal symptoms in the endurance athlete is about 25% to 70%. Even though it is recognized that the etiology of exercise-induced gastrointestinal distress is multifactorial, blood flow redistribution during physical activity and therefore gastrointestinal ischemia is often acknowledged as the main pathophysiology mechanism for the onset of symptoms. This review will provide an overview to the recent research on gastrointestinal function during strenuous exercise. In addition, we consider different nutritional interventions that could be evaluated for preventive or treatment interventions founding that ever though there is some research in the area, the scientific evidence does not support its use in athlete population.

  19. The impact of gastrointestinal symptoms on health status in patients with cardiovascular disease

    NARCIS (Netherlands)

    Laheij, R J F; Van Rossum, L G M; Krabbe, P F M; Jansen, J B M J; Verheugt, F W A

    2003-01-01

    BACKGROUND: Drugs for the management of cardiovascular disease may provoke gastrointestinal discomfort and complications. AIM: To evaluate whether upper gastrointestinal symptoms affect the health status of patients with cardiovascular disease. METHODS: Two weeks after discharge, 958 consecutive

  20. Congenital symmastia revisited

    DEFF Research Database (Denmark)

    Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans Erik

    2012-01-01

    Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia...

  1. The role of computerized tomography in the evaluation of gastrointestinal bleeding following negative or failed endoscopy: A review of current status

    Directory of Open Access Journals (Sweden)

    Stunell H

    2008-01-01

    Full Text Available Gastrointestinal bleeding remains an important cause for emergency hospital admission with a significant related morbidity and mortality. Bleeding may relate to the upper or lower gastrointestinal tracts and clinical history and examination may guide investigations to the more likely source of bleeding. The now widespread availability of endoscopic equipment has made a huge impact on the rapid identification of the bleeding source. However, there remains a large group of patients with negative or failed endoscopy, in whom additional techniques are required to identify the source of bleeding. In the past, catheter angiography and radionuclide red cell labeling techniques were the preferred ′next step′ modalities used to aid in identifying a bleeding source within the gastrointestinal tract. However, these techniques are time-consuming and of limited sensitivity and specificity. In addition, catheter angiography is a relatively invasive procedure. In recent years, computerized tomography (CT has undergone major technological advances in its speed, resolution, multiplanar techniques and angiographic abilities. It has allowed excellent visualization of the both the small and large bowel allowing precise anatomical visualization of many causes of gastrointestinal tract (GIT bleeding. In addition, recent advances in multiphasic imaging now allow direct visualization of bleeding into the bowel. In many centers CT has therefore become the ′next step′ technique in identifying a bleeding source within the GIT following negative or failed endoscopy in the acute setting. In this review article, we review the current literature and discuss the current status of CT as a modality in investigating the patient with GIT bleeding.

  2. Evaluation of lipid-based formulations of poorly water-soluble drugs in the gastro-intestinal tract using in vitro tests

    OpenAIRE

    Arnold, Yvonne Elisabeth

    2011-01-01

    Novel active pharmaceutical ingredients are often poorly water-soluble. Such compounds may only partially dissolve or may precipitate during intestinal passage, potentially leading to incomplete drug absorption. Despite the importance of the process, the underlying in vivo as well as in vitro drug-precipitation mechanisms remain poorly understood. Several formulation principles, including lipid-based formulations, have been introduced to prevent drug precipitation in the gastro-intestinal tra...

  3. Upper gastrointestinal symptoms in autoimmune gastritis

    Science.gov (United States)

    Carabotti, Marilia; Lahner, Edith; Esposito, Gianluca; Sacchi, Maria Carlotta; Severi, Carola; Annibale, Bruno

    2017-01-01

    Abstract Autoimmune gastritis is often suspected for its hematologic findings, and rarely the diagnosis is made for the presence of gastrointestinal symptoms. Aims of this cross-sectional study were to assess in a large cohort of patients affected by autoimmune gastritis the occurrence and the pattern of gastrointestinal symptoms and to evaluate whether symptomatic patients are characterized by specific clinical features. Gastrointestinal symptoms of 379 consecutive autoimmune gastritis patients were systematically assessed and classified following Rome III Criteria. Association between symptoms and anemia pattern, positivity to gastric autoantibodies, Helicobacter pylori infection, and concomitant autoimmune disease were evaluated. In total, 70.2% of patients were female, median age 55 years (range 17–83). Pernicious anemia (53.6%), iron deficiency anemia (34.8%), gastric autoantibodies (68.8%), and autoimmune disorders (41.7%) were present. However, 56.7% of patients complained of gastrointestinal symptoms, 69.8% of them had exclusively upper symptoms, 15.8% only lower and 14.4% concomitant upper and lower symptoms. Dyspepsia, subtype postprandial distress syndrome was the most represented, being present in 60.2% of symptomatic patients. Univariate and multivariate analyses showed that age gastritis is associated in almost 60% of cases with gastrointestinal symptoms, in particular dyspepsia. Dyspepsia is strictly related to younger age, no smoking, and absence of anemia. PMID:28072728

  4. Psychophysical Evaluation of Congenital Colour Vision Deficiency: Discrimination between Protans and Deutans Using Mollon-Reffin's Ellipses and the Farnsworth-Munsell 100-Hue Test.

    Science.gov (United States)

    Bento-Torres, Natáli Valim Oliver; Rodrigues, Anderson Raiol; Côrtes, Maria Izabel Tentes; Bonci, Daniela Maria de Oliveira; Ventura, Dora Fix; Silveira, Luiz Carlos de Lima

    2016-01-01

    We have used the Farnsworth-Munsell 100-hue (FM 100) test and Mollon-Reffin (MR) test to evaluate the colour vision of 93 subjects, 30.4 ± 9.7 years old, who had red-green congenital colour vision deficiencies. All subjects lived in Belém (State of Pará, Brazil) and were selected by the State of Pará Traffic Department. Selection criteria comprised the absence of visual dysfunctions other than Daltonism and no history of systemic diseases that could impair the visual system performance. Results from colour vision deficient were compared with those from 127 normal trichromats, 29.3 ± 10.3 years old. For the MR test, measurements were taken around five points of the CIE 1976 colour space, along 20 directions irradiating from each point, in order to determine with high-resolution the corresponding colour discrimination ellipses (MacAdam ellipses). Three parameters were used to compare results obtained from different subjects: diameter of circle with same ellipse area, ratio between ellipse's long and short axes, and ellipse long axis angle. For the FM 100 test, the parameters were: logarithm of the total number of mistakes and positions of mistakes in the FM diagram. Data were also simultaneously analysed in two or three dimensions as well as by using multidimensional cluster analysis. For the MR test, Mollon-Reffin Ellipse #3 (u' = 0.225, v' = 0.415) discriminated more efficiently than the other four ellipses between protans and deutans once it provided larger angular difference in the colour space between protan and deutan confusion lines. The MR test was more sensitive than the FM 100 test. It separated individuals by dysfunctional groups with greater precision, provided a more sophisticated quantitative analysis, and its use is appropriate for a more refined evaluation of different phenotypes of red-green colour vision deficiencies.

  5. Psychophysical Evaluation of Congenital Colour Vision Deficiency: Discrimination between Protans and Deutans Using Mollon-Reffin’s Ellipses and the Farnsworth-Munsell 100-Hue Test

    Science.gov (United States)

    Bento-Torres, Natáli Valim Oliver; Rodrigues, Anderson Raiol; Côrtes, Maria Izabel Tentes; Bonci, Daniela Maria de Oliveira; Ventura, Dora Fix

    2016-01-01

    We have used the Farnsworth-Munsell 100-hue (FM 100) test and Mollon-Reffin (MR) test to evaluate the colour vision of 93 subjects, 30.4 ± 9.7 years old, who had red-green congenital colour vision deficiencies. All subjects lived in Belém (State of Pará, Brazil) and were selected by the State of Pará Traffic Department. Selection criteria comprised the absence of visual dysfunctions other than Daltonism and no history of systemic diseases that could impair the visual system performance. Results from colour vision deficient were compared with those from 127 normal trichromats, 29.3 ± 10.3 years old. For the MR test, measurements were taken around five points of the CIE 1976 colour space, along 20 directions irradiating from each point, in order to determine with high-resolution the corresponding colour discrimination ellipses (MacAdam ellipses). Three parameters were used to compare results obtained from different subjects: diameter of circle with same ellipse area, ratio between ellipse’s long and short axes, and ellipse long axis angle. For the FM 100 test, the parameters were: logarithm of the total number of mistakes and positions of mistakes in the FM diagram. Data were also simultaneously analysed in two or three dimensions as well as by using multidimensional cluster analysis. For the MR test, Mollon-Reffin Ellipse #3 (u’ = 0.225, v’ = 0.415) discriminated more efficiently than the other four ellipses between protans and deutans once it provided larger angular difference in the colour space between protan and deutan confusion lines. The MR test was more sensitive than the FM 100 test. It separated individuals by dysfunctional groups with greater precision, provided a more sophisticated quantitative analysis, and its use is appropriate for a more refined evaluation of different phenotypes of red-green colour vision deficiencies. PMID:27101124

  6. The ageing gastrointestinal tract.

    Science.gov (United States)

    Soenen, Stijn; Rayner, Christopher K; Jones, Karen L; Horowitz, Michael

    2016-01-01

    This article reviews the impact of ageing on the gastrointestinal tract, including effects on the absorption of nutrients and drugs and the gastrointestinal tract defence system against ingested pathogens. Recent publications support earlier observations of an age-related selective decline in gut function including changes in taste, oesophageal sphincter motility, gastric emptying, and neurons of the myenteric plexus related to gut transit which may impact the nutritional status. Ageing is also associated with structural and functional mucosal defence defects, diminished abilities to generate protective immunity, and increased incidence of inflammation and oxidative stress. A number of gastrointestinal disorders occur more frequently in the elderly population. Alterations in gut function with ageing have particular implications for oesophageal, gastric, and colonic motility. Older individuals are particularly susceptible to malnutrition, postprandial hypotension, dysphagia, constipation, and faecal incontinence. Decrease in the number of nerve cells of the myenteric plexus that impact digestive absorption and the surface area of the small intestine because of degeneration of villi may lead to blunted absorption of nutrients. Impairment of the intestinal immune system as a result of ageing, including the mucosal layer of the gastrointestinal tract, appears to be a significant contributor to the age-related increase in the incidence and severity of infections.

  7. Congenital anomalies in Primorsky region.

    Science.gov (United States)

    Kiku, P; Voronin, S; Golokhvast, K

    2015-01-01

    According to WHO hereditary diseases and congenital malformations contribute significantly to the health of population. Thus, the problems of epidemiology, clinical presentation, diagnosis and treatment of congenital abnormalities are of interest for many researchers [2]. In addition, the dynamic accounting for the incidence of congenital malformations and hereditary diseases allows the researchers to assess the ecological situation in the region [1]. The occurrence of congenital anomalies in the world varies; it depends heavily on how carefully the data is collected [4]. Multifactorial or polygenic diseases develop under the influence of environmental factors in the presence of defective genes. They can constitute up to 90% of all chronic pathology [2-5]. To determine the incidence of congenital anomalies under the influence of environmental factors. The study used the methodology of system evaluation of congenital anomalies incidence in Primorsky region, depending on bio-climatic and environmental conditions. The authors used health statistics for the period from 2000 to 2014, F.12 class for congenital abnormalities in adolescents and children that were compared in geographical and temporal aspects with environmental factors of 33 settlements in Primorsky region. The environment is represented by nature and climate (6 factor modules) and sanitation (7 factor modules) blocks of factors. When formalizing the information database of the environment a specially developed 10-point assessment scale was used. Statistical processing of the information was carried out using Pearson's chi-squared test and multiple regression method from SSPS application program package. The study found that over the 15-year period the level of congenital abnormalities in children increased by 27.5% and in adolescents - by 35.1%, and in 2014 it amounted to 1687.6 and 839.3 per 100 000 people, respectively. The predictive model shows a steady further growth of this pathology. The incidence

  8. Morphological classifications of gastrointestinal lesions

    NARCIS (Netherlands)

    Vleugels, Jasper L. A.; Hazewinkel, Yark; Dekker, Evelien

    2017-01-01

    In the era of spreading adoption of gastrointestinal endoscopy screening worldwide, endoscopists encounter an increasing number of complex lesions in the gastrointestinal tract. For decision-making on optimal treatment, precise lesion characterization is crucial. Especially the assessment of

  9. Contrast media for radiological examination in gastrointestinal tract leakage

    NARCIS (Netherlands)

    A.Z. Ginai (Abida)

    1987-01-01

    textabstractThe aim of this investigation has been to find a safe and suitable contrast medium for radiological evaluation of the gastrointestinal tract in cases where leakage outside the GIT can be suspected. Leakage outside the gastro-intestinal tract lumen can occur in many ways eg.,

  10. Rockall score of the acute upper gastrointestinal bleeding patients ...

    African Journals Online (AJOL)

    Rockall score of the acute upper gastrointestinal bleeding patients the experience in Sudan. ... subjective evaluation of outcome of patient treatment. Objectives: To predict the morbidity and mortality in patients presenting with acute upper gastrointestinal bleeding at Ibn-Sina Hospital using the Rockall score. Patients and ...

  11. Pulmonary Hypertension in Congenital Heart Disease: Beyond Eisenmenger Syndrome.

    Science.gov (United States)

    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. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Personalized Clinical Decision Making in Gastrointestinal Malignancies

    DEFF Research Database (Denmark)

    Hess, Søren; Bjerring, Ole Steen; Pfeiffer, Per

    2016-01-01

    and initial stages. This article outlines the potential use of fluorodeoxyglucose-PET/CT in clinical decision making with special regard to preoperative evaluation and response assessment in gastric cancer (including the gastroesophageal junction), pancreatic cancer (excluding neuroendocrine tumors......Gastrointestinal malignancies comprise a heterogeneous group of diseases that include both common and rare diseases with very different presentations and prognoses. The mainstay of treatment is surgery in combination with preoperative and adjuvant chemotherapy depending on clinical presentation......), colorectal cancer, and gastrointestinal stromal tumors....

  13. Is the probability of prenatal diagnosis or termination of pregnancy different for fetuses with congenital anomalies conceived following assisted reproductive techniques? A population-based evaluation of fetuses with congenital heart defects.

    Science.gov (United States)

    Tararbit, K; Lelong, N; Jouannic, J-M; Goffinet, F; Khoshnood, B

    2015-06-01

    To compare the probability of prenatal diagnosis (PND) and termination of pregnancy for fetal anomaly (TOPFA) between fetuses conceived by assisted reproductive techniques (ART) and spontaneously-conceived fetuses with congenital heart defects (CHD). Population-based observational study. Paris and surrounding suburbs. Fetuses with CHD in the Paris registry of congenital malformations and cohort of children with CHD (Epicard). Comparison of ART-conceived and spontaneously conceived fetuses taking into account potential confounders (maternal characteristics, multiplicity and year of birth or TOPFA). Probability and gestational age at PND and TOPFA for ART-conceived versus spontaneously conceived fetuses. The probability of PND (28.1% versus 34.6%, P = 0.077) and TOPFA (36.2% versus 39.2%, P = 0.677) were not statistically different between ART-conceived (n = 171) and spontaneously conceived (n = 4620) fetuses. Estimates were similar after adjustment for potential confounders. Gestational age at PND tended to be earlier for ART fetuses (23.1 versus 24.8 weeks, P = 0.05) but no statistical difference was found after adjustment for confounders. Gestational age at TOPFA was comparable between ART-conceived and spontaneously conceived fetuses. In our population, ART conception was not significantly associated with the probability of PND or TOPFA for CHD. One implication of our results is that live births may be adequate for assessing the overall risk of CHD related to ART. However, total prevalence, in particular of severe CHD, would not be adequately assessed if TOPFA are not included. © 2015 Royal College of Obstetricians and Gynaecologists.

  14. Primary (AL) amyloidosis with gastrointestinal involvement

    DEFF Research Database (Denmark)

    Madsen, Lone Galmstrup; Gimsing, Peter; Schiødt, Frank V

    2009-01-01

    , patients with AL amyloidosis admitted for evaluation of malabsorption in a Department of Gastroenterology between January 2000 and December 2006 were identified. RESULTS: A total of 11 patients (4 F, age 60 years, median (range) 50-69) were included in the study. Gastrointestinal amyloidosis......OBJECTIVE: Immunoglobulin light-chain (AL) amyloidosis is a rare disease that can affect several organs. The aim of this study was to characterize patients with gastrointestinal manifestations of AL amyloidosis, in terms of symptoms, biochemistry, and outcome. MATERIAL AND METHODS: Retrospectively...... was histologically verified in all patients. All patients had gastrointestinal symptoms, 8 of them prior to establishment of diagnosis. Median (range) delay from initial symptoms to diagnosis was 7 (0-24) months. The most prominent symptom was weight loss (n=10) averaging 7 (0-25) kg, followed by diarrhea (n=5...

  15. Evaluation of gastric emptying time, gastrointestinal transit time, sedation score, and nausea score associated with intravenous constant rate infusion of lidocaine hydrochloride in clinically normal dogs.

    Science.gov (United States)

    Johnson, Rebecca A; Kierski, Katharine R; Jones, Brian G

    2017-05-01

    OBJECTIVE To quantify nausea and sedation scores, gastric emptying time, and gastrointestinal transit time after IV administration of a lidocaine hydrochloride bolus followed by a constant rate infusion (CRI) in clinically normal dogs. ANIMALS 6 Beagles. PROCEDURES In a crossover study, dogs were fed thirty 1.5-mm barium-impregnated spheres (BIPS) and received a saline (0.9% NaCl) solution bolus (0.05 mL/kg) IV (time 0) followed by a CRI at 10 mL/h, a lidocaine bolus (1 mg/kg) IV followed by a CRI at 25 μg/kg/min, or a lidocaine bolus (1 mg/kg) IV followed by a CRI at 50 μg/kg/min; CRIs were for 12 hours. Nausea and sedation scores were assessed and abdominal radiographs obtained immediately after feeding of BIPS and every hour for 12 hours and again 16 hours after CRI start. Percentage of BIPSs in the small and large intestines, gastric emptying time, and gastrointestinal transit time were assessed. RESULTS Gastric emptying time did not differ significantly among treatments. Significantly more BIPS were in the large intestine 4 to 7 hours after treatment start for the 50-μg/kg/min treatment than for the other 2 treatments. Six hours after treatment start, significantly more BIPS were in the large intestine for the 25-μg/kg/min treatment than for the saline solution treatment. Higher sedation and nausea scores were associated with the 50-μg/kg/min CRI. CONCLUSIONS AND CLINICAL RELEVANCE In clinically normal dogs, lidocaine CRI did not significantly affect gastric emptying. However, gastrointestinal transit time was mildly decreased and sedation and nausea scores increased in dogs administered a lidocaine CRI at clinically used doses.

  16. Evaluation of selective gamma-secretase inhibitor PF-03084014 for its antitumor efficacy and gastrointestinal safety to guide optimal clinical trial design.

    Science.gov (United States)

    Wei, Ping; Walls, Marlena; Qiu, Ming; Ding, Richard; Denlinger, Robert H; Wong, Anthony; Tsaparikos, Kosta; Jani, Jitesh P; Hosea, Natilie; Sands, Michelle; Randolph, Sophia; Smeal, Tod

    2010-06-01

    Aberrant regulation of Notch signaling has been implicated in tumorigenesis. Proteolytic release of the Notch intracellular domain (NICD) by gamma-secretase plays a key role in Notch-dependent nuclear signaling. gamma-Secretase is an attractive pharmaceutical target for therapeutic intervention in cancer. We describe the potent antitumor effects of PF-03084014, a small molecule that is a reversible, noncompetitive, and selective gamma-secretase inhibitor. The ability of PF-03084014 to inhibit gamma-secretase activity was shown by the reduction of endogenous NICD levels and by the downregulation of Notch target genes Hes-1 and cMyc in the T-cell acute lymphoblastic leukemia (T-ALL) cell line HPB-ALL. PF-03084014 caused cell growth inhibition of several T-ALL cell lines via cell cycle arrest and induction of apoptosis. PF-03084014 treatment also resulted in robust NICD reduction in HBP-ALL xenograft models. Broad antitumor efficacy at well-tolerated dose levels was observed in six Notch-dependent models. Additional mechanism-of-action studies showed inhibition of tumor cell proliferation and induction of apoptosis in HPB-ALL tumors, suggesting that the antitumor activity of PF-03084014 may be mediated by its direct effects on tumor cell growth or survival. Further studies on PF-03084014-induced gastrointestinal toxicity identified an intermittent dosing schedule that displayed reduced body weight loss and sustained antitumor efficacy. We also showed that glucocorticoids abrogated PF-03084014-induced gastrointestinal toxicity and delayed administration of glucocorticoids did not compromise its protection effect. Collectively, the results show that inhibition of Notch signaling by PF-03084014 while minimizing gastrointestinal toxicity presents a promising approach for development of therapies for Notch receptor-dependent cancers. This compound is being investigated for the treatment of T-ALL and advanced solid tumors in phase I clinical trials.

  17. Evaluation of image quality and radiation dose at prospective ECG-triggered axial 256-slice multi-detector CT in infants with congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Huang, Mei-ping; Liang, Chang-hong; Zhao, Zhen-jun; Liu, Hui; Li, Jing-lei; Zhang, Jin-e; Cui, Yan-hai; Yang, Lin; Liu, Qi-shun [Guangdong Academy of Medical Sciences, Guangdong General Hospital, Department of Radiology, Guangzhou (China); Ivanc, Thomas B.; Vembar, Mani [Philips Healthcare, CT Clinical Science, Highland Heights, OH (United States)

    2011-07-15

    There are a limited number of reports on the technical and clinical feasibility of prospective electrocardiogram (ECG)-gated multi-detector computed tomography (MDCT) in infants with congenital heart disease (CHD). To evaluate image quality and radiation dose at weight-based low-dose prospectively gated 256-slice MDCT angiography in infants with CHD. From November 2009 to February 2010, 64 consecutive infants with CHD referred for pre-operative or post-operative CT were included. All were scanned on a 256-slice MDCT system utilizing a low-dose protocol (80 kVp and 60-120 mAs depending on weight: 60 mAs for {<=}3 kg, 80 mAs for 3.1-6 kg, 100 mAs for 6.1-10 kg, 120 mAs for 10.1-15 kg). No serious adverse events were recorded. A total of 174 cardiac deformities, confirmed by surgery or heart catheterization, were studied. The sensitivity of MDCT for cardiac deformities was 97.1%; specificity, 99.4%; accuracy, 95.9%. The mean heart rate during scan was 136.7 {+-} 14.9/min (range, 91-160) with a corresponding heart rate variability of 2.8 {+-} 2.2/min (range, 0-8). Mean scan length was 115.3 {+-} 11.7 mm (range, 93.6-143.3). Mean volume CT dose index, mean dose-length product and effective dose were 2.1 {+-} 0.4 mGy (range, 1.5-2.8), 24.7 {+-} 5.9 mGy.cm (range, 14.7-35.8) and 1.6 {+-} 0.3 mSv (range, 1.1-2.5), respectively. Diagnostic-quality images were achieved in all cases. Satisfactory diagnostic quality for visualization of all/proximal/distal coronary artery segments was achieved in 88.4/98.8/80.0% of the scans. Low-dose prospectively gated axial 256-slice CT angiography is a valuable tool in the routine clinical evaluation of infants with CHD, providing a comprehensive three-dimensional evaluation of the cardiac anatomy, including the coronary arteries. (orig.)

  18. Congenital Portosystemic Shunt: Our Experience

    Directory of Open Access Journals (Sweden)

    Tiziana Timpanaro

    2015-01-01

    Full Text Available 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.

  19. Gastrointestinal effects of low-digestible carbohydrates.

    Science.gov (United States)

    Grabitske, Hollie A; Slavin, Joanne L

    2009-04-01

    Low-digestible carbohydrates (LDCs) are carbohydrates that are incompletely or not absorbed in the small intestine but are at least partly fermented by bacteria in the large intestine. Fiber, resistant starch, and sugar alcohols are types of LDCs. Given potential health benefits (including a reduced caloric content, reduced or no effect on blood glucose levels, non-cariogenic effect) the prevalence of LDCs in processed foods is increasing. Many of the benefits of LDCs are related to the inability of human digestive enzymes to break down completely the carbohydrates into absorbable saccharides and the subsequent fermentation of unabsorbed carbohydrates in the colon. As a result, LDCs may affect laxation and cause gastrointestinal effects, including abdominal discomfort, flatus, and diarrhea, especially at higher or excessive intakes. Such responses, though transient, affect the perception of the well-being of consumers and their acceptance of food products containing LDCs. Current recommendations for fiber intake do not consider total LDC consumption nor recommend an upper limit for LDC intake based on potential gastrointestinal effects. Therefore, a review of published studies reporting gastrointestinal effects of LDCs was conducted. We included only studies published in refereed journals in English. Additionally, we excluded studies of subjects with incomplete or abnormal functioning gastrointestinal tracts or where antibiotics, stimulant laxatives, or other drugs affecting motility were included. Only in studies with a control period, either placebo treatment or no LDC treatment, were included. Studies must have included an acceptable measure of gastrointestinal effect. Sixty-eight studies and six review articles were evaluated. This review describes definitions, classifications, and mechanisms of LDCs, evaluates published human feeding studies of fifteen LDCs for associations between gastrointestinal effects and levels of LDC intake, and presents recommendations

  20. Aspects of surgery for congenital ventricular septal defect

    NARCIS (Netherlands)

    G. Bol-Raap (Goris)

    2007-01-01

    textabstractIn chapter 1, an outline of the thesis is given. This thesis focuses on aspects of surgical closure of a congenital ventricular septal defect. In Chapter 2, the accuracy and the potential of 3-D echocardiography in the preoperative assessment of a congenital VSD were evaluated. 3-D

  1. Double congenital patella: case report and review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Visconti, D. [Servizio di Radiologia Ospedale Cavalese Trento, Via Dossi 17, I-38 033 Cavalese (Italy); Della Sala, S.W. [U. O. di Radiologia, Sezione TAC RM, Ospedale S. Chiara, I-38100 Trento (Italy); Bianchini, G. [A. O. di Ortopedia e Traumatologia, Ospedale Cles, I-38023 Trento (Italy); Manera, V. [U. O. di Radiologia, Sezione TAC RM, Ospedale S. Chiara, I-38100 Trento (Italy)

    1996-08-01

    The authors report a case of double congenital patella, which is a rare finding. This anomaly was studied using radiography, CT and MR. Magnetic resonance imaging has enabled us to make an accurate anatomical evaluation of the double congenital patella. (orig.). With 5 figs., 2 tabs.

  2. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in ...

    African Journals Online (AJOL)

    Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa. Y Ganie, C Aldous, Y Balakrishna, R Wiersma. Abstract. Background. Congenital adrenal hyperplasia (CAH) caused by deficiency of the 21-hydoxylase (21-OH) enzyme is the most common form of CAH worldwide. Objective. To evaluate the ...

  3. Gastrointestinal Complications of Obesity

    Science.gov (United States)

    Camilleri, Michael; Malhi, Harmeet; Acosta, Andres

    2017-01-01

    Obesity usually is associated with morbidity related to diabetes mellitus and cardiovascular diseases. However, there are many gastrointestinal and hepatic diseases for which obesity is the direct cause (eg, nonalcoholic fatty liver disease) or is a significant risk factor, such as reflux esophagitis and gallstones. When obesity is a risk factor, it may interact with other mechanisms and result in earlier presentation or complicated diseases. There are increased odds ratios or relative risks of several gastrointestinal complications of obesity: gastroesophageal reflux disease, erosive esophagitis, Barrett’s esophagus, esophageal adenocarcinoma, erosive gastritis, gastric cancer, diarrhea, colonic diverticular disease, polyps, cancer, liver disease including nonalcoholic fatty liver disease, cirrhosis, hepatocellular carcinoma, gallstones, acute pancreatitis, and pancreatic cancer. Gastroenterologists are uniquely poised to participate in the multidisciplinary management of obesity as physicians caring for people with obesity-related diseases, in addition to their expertise in nutrition and endoscopic interventions. PMID:28192107

  4. GASTROINTESTINAL STROMAL TUMOR (GIST

    Directory of Open Access Journals (Sweden)

    Luigi eTornillo

    2014-11-01

    Full Text Available Gastrointestinal stromal tumors are the most frequent mesenchymal tumors of the gastrointestinal tract. The discovery that these tumors, formerly thought of smooth muscle origin, are indeed better characterized by specific activating mutation in genes coding for the receptor tyrosine kinases CKIT and PDGFRA and that these mutations are strongly predictive for the response to targeted therapy with receptor tyrosine kinase inhibitors has made GISTs the typical example of the integration of basic molecular knowledge in the daily clinical activity. The information on the mutational status of these tumors is essential to predict (and subsequently to plan the therapy. As resistant cases are frequently wild-type, other possible oncogenic events, defining other entities, have been discovered (e.g. succinil dehydrogenase mutation/dysregulation, insuline growth factor expression, mutations in the RAS-RAF-MAPK pathway. The classification of disease must nowadays rely on the integration of the clinico-morphological characteristics with the molecular data.

  5. [Microbiota and gastrointestinal diseases].

    Science.gov (United States)

    Polanco Allué, I

    2015-12-01

    The bacterial colonisation is established immediately after birth, through direct contact with maternal microbiota, and may be influenced during lactation. There is emerging evidence indicating that quantitative and qualitative changes on gut microbiota contribute to alterations in the mucosal activation of the immune system, leading to intra- or extra-intestinal diseases. A balance between pathogenic and beneficial microbiota throughout childhood and adolescence is important to gastrointestinal health, including protection against pathogens, inhibition of pathogens, nutrient processing (synthesis of vitamin K), stimulation of angiogenesis, and regulation of host fat storage. Probiotics can promote an intentional modulation of intestinal microbiota favouring the health of the host. A review is presented on the modulation of intestinal microbiota on prevention, and adjuvant treatment of some paediatric gastrointestinal diseases. Copyright © 2015 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  6. Gastrointestinal Complications of Obesity.

    Science.gov (United States)

    Camilleri, Michael; Malhi, Harmeet; Acosta, Andres

    2017-05-01

    Obesity usually is associated with morbidity related to diabetes mellitus and cardiovascular diseases. However, there are many gastrointestinal and hepatic diseases for which obesity is the direct cause (eg, nonalcoholic fatty liver disease) or is a significant risk factor, such as reflux esophagitis and gallstones. When obesity is a risk factor, it may interact with other mechanisms and result in earlier presentation or complicated diseases. There are increased odds ratios or relative risks of several gastrointestinal complications of obesity: gastroesophageal reflux disease, erosive esophagitis, Barrett's esophagus, esophageal adenocarcinoma, erosive gastritis, gastric cancer, diarrhea, colonic diverticular disease, polyps, cancer, liver disease including nonalcoholic fatty liver disease, cirrhosis, hepatocellular carcinoma, gallstones, acute pancreatitis, and pancreatic cancer. Gastroenterologists are uniquely poised to participate in the multidisciplinary management of obesity as physicians caring for people with obesity-related diseases, in addition to their expertise in nutrition and endoscopic interventions. Copyright © 2017 AGA Institute. Published by Elsevier Inc. All rights reserved.

  7. Radiology illustrated. Gastrointestinal tract

    Energy Technology Data Exchange (ETDEWEB)

    Choi, Byung Ihn (ed.) [Seoul National University Hospital (Korea, Republic of). Dept. of Radiology

    2015-02-01

    Radiology Illustrated: Gastrointestinal Tract is the second of two volumes designed to provide clear and practical guidance on the diagnostic imaging of abdominal diseases. The book presents approximately 300 cases with 1500 carefully selected and categorized illustrations of gastrointestinal tract diseases, along with key text messages and tables that will help the reader easily to recall the relevant images as an aid to differential diagnosis., Essential points are summarized at the end of each text message to facilitate rapid review and learning. Additionally, brief descriptions of each clinical problem are provided, followed by case studies of both common and uncommon pathologies that illustrate the roles of the different imaging modalities, including ultrasound, radiography, computed tomography, and magnetic resonance imaging.

  8. Upper Gastrointestinal Stent

    OpenAIRE

    Kim, Sang Gyun; Yang, Chang-Hun

    2012-01-01

    Gastrointestinal (GI) stent has been developed for palliation of obstructive symptoms in various diseases causing obstruction of GI tract. Self-expanding metal stent (SEMS) has replaced old type of plastic stent, and endoscopic insertion of stent has replaced fluoroscopy-guided insertion. Nowadays, newly-designed SEMSs have been developed for prevention of complications such as stent migration and re-obstruction, and indications of stent recently have been widened into benign conditions as we...

  9. Gastrointestinal food allergies.

    Science.gov (United States)

    Heine, Ralf G

    2015-01-01

    Gastrointestinal food allergies present during early childhood with a diverse range of symptoms. Cow's milk, soy and wheat are the three most common gastrointestinal food allergens. Several clinical syndromes have been described, including food protein-induced enteropathy, proctocolitis and enterocolitis. In contrast with immediate, IgE-mediated food allergies, the onset of gastrointestinal symptoms is delayed for at least 1-2 hours after ingestion in non-IgE-mediated allergic disorders. The pathophysiology of these non-IgE-mediated allergic disorders is poorly understood, and useful in vitro markers are lacking. The results of the skin prick test or measurement of the food-specific serum IgE level is generally negative, although low-positive results may occur. Diagnosis therefore relies on the recognition of a particular clinical phenotype as well as the demonstration of clear clinical improvement after food allergen elimination and the re-emergence of symptoms upon challenge. There is a significant clinical overlap between non-IgE-mediated food allergy and several common paediatric gastroenterological conditions, which may lead to diagnostic confusion. The treatment of gastrointestinal food allergies requires the strict elimination of offending food allergens until tolerance has developed. In breast-fed infants, a maternal elimination diet is often sufficient to control symptoms. In formula-fed infants, treatment usually involves the use an extensively hydrolysed or amino acid-based formula. Apart from the use of hypoallergenic formulae, the solid diets of these children also need to be kept free of specific food allergens, as clinically indicated. The nutritional progress of infants and young children should be carefully monitored, and they should undergo ongoing, regular food protein elimination reassessments by cautious food challenges to monitor for possible tolerance development. © 2015 S. Karger AG, Basel.

  10. Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency.

    Science.gov (United States)

    Sakiyama, Tomo; Kubo, Akiharu; Sasaki, Takashi; Yamada, Taketo; Yabe, Nobushige; Matsumoto, Ken-ichi; Futei, Yuko

    2015-05-01

    Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous disorder. Using a customized targeted exome-sequencing system we identified nonsense mutations in TNXB in a patient who had recurrent gastrointestinal perforation due to tissue fragility. This case highlights the utility of targeted exome sequencing for the diagnosis of congenital diseases showing genetic heterogeneity, and the importance of attention to gastrointestinal perforation in patients with tenascin-X deficient type EDS. © 2015 Japanese Dermatological Association.

  11. Tissue Doppler and speckle tracking strain echocardiography : from evaluation in healthy children to follow-up after surgery for a congenital heart defect

    NARCIS (Netherlands)

    Klitsie, Liselotte Maria

    2014-01-01

    This thesis provides insights in characteristics of newly introduced echocardiographic parameters in healthy children and their use in follow-up of patients with a congenital heart defect (CHD) after surgery. In healthy children, reference values and characteristics of two echocardiographic

  12. Dissolution of Lipid-Based Matrices in Simulated Gastrointestinal Solutions to Evaluate Their Potential for the Encapsulation of Bioactive Ingredients for Foods

    Directory of Open Access Journals (Sweden)

    Yves Raymond

    2014-01-01

    Full Text Available The goal of the study was to compare the dissolution of chocolate to other lipid-based matrices suitable for the microencapsulation of bioactive ingredients in simulated gastrointestinal solutions. Particles having approximately 750 μm or 2.5 mm were prepared from the following lipid-based matrices: cocoa butter, fractionated palm kernel oil (FPKO, chocolate, beeswax, carnauba wax, and paraffin. They were added to solutions designed to simulate gastric secretions (GS or duodenum secretions (DS at 37°C. Paraffin, carnauba wax, and bees wax did not dissolve in either the GS or DS media. Cocoa butter, FPKO, and chocolate dissolved in the DS medium. Cocoa butter, and to a lesser extent chocolate, also dissolved in the GS medium. With chocolate, dissolution was twice as fast as that with small particles (750 μm as compared to the larger (2.5 mm ones. With 750 μm particle sizes, 90% dissolution of chocolate beads was attained after only 60 minutes in the DS medium, while it took 120 minutes for 70% of FPKO beads to dissolve in the same conditions. The data are discussed from the perspective of controlled release in the gastrointestinal tract of encapsulated ingredients (minerals, oils, probiotic bacteria, enzymes, vitamins, and peptides used in the development of functional foods.

  13. Congenital orbital teratoma

    Directory of Open Access Journals (Sweden)

    Shereen Aiyub

    2013-01-01

    Full Text Available We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

  14. Congenital Adrenal Hyperplasia

    National Research Council Canada - National Science Library

    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...

  15. 18F-DOPA PET/CT and 68Ga-DOTANOC PET/CT scans as diagnostic tools in focal congenital hyperinsulinism: a blinded evaluation.

    Science.gov (United States)

    Christiansen, Charlotte Dahl; Petersen, Henrik; Nielsen, Anne Lerberg; Detlefsen, Sönke; Brusgaard, Klaus; Rasmussen, Lars; Melikyan, Maria; Ekström, Klas; Globa, Evgenia; Rasmussen, Annett Helleskov; Hovendal, Claus; Christesen, Henrik Thybo

    2018-02-01

    Focal congenital hyperinsulinism (CHI) is curable by surgery, which is why identification of the focal lesion is crucial. We aimed to determine the use of 18F-fluoro-dihydroxyphenylalanine (18F-DOPA) PET/CT vs. 68Ga-1,4,7,10-tetraazacyclododecane-1,4,7,10-tetraacetic-acid-1-Nal3-octreotide (68Ga-DOTANOC) PET/CT as diagnostic tools in focal CHI. PET/CT scans of children with CHI admitted to Odense University Hospital between August 2005 and June 2016 were retrospectively evaluated visually and by their maximal standardized uptake values (SUVmax) by two independent examiners, blinded for clinical, surgical and pathological data. Pancreatic histology was used as the gold standard. For patients without surgery, the genetic profile served as the gold standard. Fifty-five CHI patients were examined by PET/CT (18F-DOPA n = 53, 68Ga-DOTANOC n = 18). Surgery was performed in 34 patients, no surgery in 21 patients. Fifty-one patients had a classifiable outcome, either by histology (n = 33, 22 focal lesions, 11 non-focal) or by genetics (n = 18, all non-focal). The predictive performance of 18F-DOPA PET/CT to identify focal CHI was identical by visual- and cut-off-based evaluation: sensitivity (95% CI) of 1 (0.85-1); specificity of 0.96 (0.82-0.99). The optimal 18F-DOPA PET SUVmax ratio cut-off was 1.44 and the optimal 68Ga-DOTANOC PET SUVmax cut-off was 6.77 g/ml. The area under the receiver operating curve was 0.98 (0.93-1) for 18F-DOPA PET vs. 0.71 (0.43-0.95) for 68Ga-DOTANOC PET (p PET/CT and 68Ga-DOTANOC PET/CT, respectively. 18F-DOPA PET/CT was excellent in predicting focal CHI and superior compared to 68Ga-DOTANOC PET/CT. Further use of 68GA-DOTANOC PET/CT in predicting focal CHI is discouraged.

  16. Congenital cytomegalovirus infection

    OpenAIRE

    D'Oronzio, U; Arlettaz, R.; Hagmann, C.

    2015-01-01

    Clinical details of 50 infants with congenital cytomegalovirus infection identified in a prospective study are reported. The mean birthweight, gestational age, and head circumference of children with congenital cytomegalovirus infection were not significantly different from those of controls. Three (6%) had symptoms at birth--two neurological and one pneumonitis. In the first four months of life transient hepatosplenomegaly occurred in two infected children and six suffered interstitial pneum...

  17. Multifocal Congenital Hemangiopericytoma.

    Science.gov (United States)

    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. © 2016 Wiley Periodicals, Inc.

  18. Congenital pulmonary lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Campisi Corradino

    2006-10-01

    Full Text Available Abstract Congenital pulmonary lymphangiectasia (PL is a rare developmental disorder involving the lung, and characterized by pulmonary subpleural, interlobar, perivascular and peribronchial lymphatic dilatation. The prevalence is unknown. PL presents at birth with severe respiratory distress, tachypnea and cyanosis, with a very high mortality rate at or within a few hours of birth. Most reported cases are sporadic and the etiology is not completely understood. It has been suggested that PL lymphatic channels of the fetal lung do not undergo the normal regression process at 20 weeks of gestation. Secondary PL may be caused by a cardiac lesion. The diagnostic approach includes complete family and obstetric history, conventional radiologic studies, ultrasound and magnetic resonance studies, lymphoscintigraphy, lung functionality tests, lung biopsy, bronchoscopy, and pleural effusion examination. During the prenatal period, all causes leading to hydrops fetalis should be considered in the diagnosis of PL. Fetal ultrasound evaluation plays a key role in the antenatal diagnosis of PL. At birth, mechanical ventilation and pleural drainage are nearly always necessary to obtain a favorable outcome of respiratory distress. Home supplemental oxygen therapy and symptomatic treatment of recurrent cough and wheeze are often necessary during childhood, sometimes associated with prolonged pleural drainage. Recent advances in intensive neonatal care have changed the previously nearly fatal outcome of PL at birth. Patients affected by PL who survive infancy, present medical problems which are characteristic of chronic lung disease.

  19. Congenital Short QT Syndrome

    Directory of Open Access Journals (Sweden)

    Charles Antzelevitch

    2004-04-01

    Full Text Available Long QT intervals in the ECG have long been associated with sudden cardiac death. The congenital long QT syndrome was first described in individuals with structurally normal hearts in 1957.1 Little was known about the significance of a short QT interval. In 1993, after analyzing 6693 consecutive Holter recordings Algra et al concluded that an increased risk of sudden death was present not only in patients with long QT interval, but also in patients with short QT interval (<400 ms.2 Because this was a retrospective analysis, further evaluation of the data was not possible. It was not until 2000 that a short-QT syndrome (SQTS was proposed as a new inherited clinical syndrome by Gussak et al.3 The initial report was of two siblings and their mother all of whom displayed persistently short QT interval. The youngest was a 17 year old female presenting with several episodes of paroxysmal atrial fibrillation requiring electrical cardioversion.3 Her QT interval measured 280 msec at a heart rate of 69. Her 21 year old brother displayed a QT interval of 272 msec at a heart rate of 58, whereas the 51 year old mother showed a QT of 260 msec at a heart rate of 74. The authors also noted similar ECG findings in another unrelated 37 year old patient associated with sudden cardiac death.

  20. INCIDENCE AND SEXUAL PREPONDERANCE OF CONGENITAL MALFORMATIONS IN NICU, AT RIMS, RAICHUR

    Directory of Open Access Journals (Sweden)

    Nagaraj

    2015-05-01

    Full Text Available This is a prospective study of congenital anomalies in babies admitted to NICU at RIMS teaching hospital from September 2014 to March 2015 and half yearly incidence was noted. The anomalies were classified into gastrointestinal, cardiovascular, nervous sy stem, orofacial abnormalities, musculoskeletal and multisystem disorders. Each of them was further observed for sexual preponderance

  1. Do SSRIs increase the risk of gastrointestinal adverse effects?

    NARCIS (Netherlands)

    Pouwels, Koen; Kalkman, Arno; Schagen, Daan; Visser, Sipke; Hak, Eelko

    2013-01-01

    Background: Selective serotonin reuptake inhibitors (SSRIs) have been associated with gastrointestinal (GI) adverse effects. However, conflicting results were obtained by studies that evaluated the association between SSRIs, whether or not in combination with NSAIDs, and GI adverse effects.

  2. Congenital Heart Diseases associated with Identified Syndromes ...

    African Journals Online (AJOL)

    BACKGROUND: Congenital heart diseases are commonly associated with other extra cardiac congenital malformations. OBJECTIVE: To identify congenital heart diseases associated with identified syndromes and other extra cardiac congenital malformations in children in our hospital. METHODS: A prospective descriptive ...

  3. Evaluation of antioxidant activity and antiproliferative effect of fruit juices enriched with Pycnogenol® in colon carcinoma cells. The effect of in vitro gastrointestinal digestion.

    Science.gov (United States)

    Frontela-Saseta, Carmen; López-Nicolás, Rubén; González-Bermúdez, Carlos A; Peso-Echarri, Patricia; Ros-Berruezo, Gaspar; Martínez-Graciá, Carmen; Canali, Raffaella; Virgili, Fabio

    2011-12-01

    The aim of this study was to examine the effect of in vitro gastrointestinal digestion on the antioxidant and antiproliferative effect of fruit juices enriched with Pycnogenol® (0.5 g/L) on a colon carcinoma cell line (Caco-2). The total phenolic concentration (TPC), antioxidant activity and inhibition cell growth were studied in fresh and digested pineapple juice and red fruits juice (both enriched with pine bark extract and not). After in vitro digestion the level of detectable phenolic compounds (expressed as gallic acid equivalent) was higher in both pineapple and red fruits juices enriched with Pycnogenol® than in non-enriched commercial juices (155.6 mg/100 mL vs 94.6 mg/100 mL and 478.5 mg/100 mL vs 406.9 mg/100 mL, respectively). Increased antioxidant activity (measured by 2,2'-azino-bis(3-ethylbenzothiazoline-6-sulphonic acid) (ABTS) and oxygen radical absorbance capacity assay (ORAC) methods) was observed in digested enriched juices with respect to the same samples before digestion. Pycnogenol® enrichment led to a high antiproliferative effect between 24 and 72 h of incubation with undigested pineapple juice compared with the non-enriched juice. It can be concluded that enrichment of fruit juices with Pycnogenol® provides a source of phenolic compounds with high stability to in vitro gastrointestinal conditions; however, the antioxidant properties of fruit juices were affected to a different extent. Copyright © 2011 John Wiley & Sons, Ltd.

  4. Congenital Short Bowel Syndrome: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Mohammed Hasosah

    2008-01-01

    Full Text Available Congenital short bowel syndrome (SBS is a rare condition of the newborn, with several reports demonstrating high mortality. A six-week-old boy presented with chronic diarrhea and failure to thrive. An upper gastrointestinal endoscopy showed a straight duodenum, and multiple small bowel biopsies were histologically normal. An upper gastrointestinal series showed malrotation. At laparotomy, the small bowel was 50 cm in length, confirming the diagnosis of congenital SBS. Parenteral nutrition was initiated and enteral feeding with an amino acid-based formula containing long-chain fatty acids was introduced early and gradually advanced. At the last follow-up examination at 24 months, he was thriving on a regular diet, with normal growth and development. Long-term survival of children with congenital SBS is now possible if enteral feeds are introduced early to promote intestinal adaptation, with subsequent weaning off parenteral nutrition.

  5. The gastrointestinal tract

    DEFF Research Database (Denmark)

    Bartels, Else M.; Harrison, Adrian Paul

    2009-01-01

    The gastrointestinal tract (GIT) has always been and remains a major source of interest in terms of both its function, and its malfunction. Our current knowledge of age-related changes in this system, as well as drug-food interactions, however, remains relatively limited. Paradoxically, the GIT...... is not one of the core battery of tests that pharmaceutical companies are obliged to investigate as part of drug development. This review aims to cover the basics of GIT function before highlighting aspects of relevance for safety pharmacology in terms of age, cancerogenesis, and noth drug and diet...

  6. Gastrointestinal care for older people.

    Science.gov (United States)

    Tremayne, Penny; Harrison, Penny

    2016-07-06

    This article discusses gastrointestinal (GI) healthcare in older people. It outlines the physiological changes that occur in the GI tract as a result of ageing, and discusses common GI disorders in older people. These GI disorders include dysphagia, gastrointestinal reflux disease, colorectal cancer, diverticular disease, constipation and anaemia. Healthcare professionals should be aware of the factors that may influence gastrointestinal health in older people, including nutrition, hydration and alcohol use, which are important considerations when delivering person-centred care.

  7. [Congenital buried penis in children].

    Science.gov (United States)

    Lardellier-Reynaud, F; Varlet, F; François, M; Mouriquand, P

    2011-10-01

    Congenital buried penis in children is an uncommon and poorly known entity. The aims of this study were to report an original technique for correction of buried penis and to evaluate its results. It is a retrospective study of buried penis operated between November 1998 and May 2009. The acquired concealed penis and hypospadias were excluded from this study. The procedure includes several stages: degloving of the penis through a ventral anchor-like incision; division of the adherent layers surrounding the corpora cavernosa; anchorage of the Buck's fascia to the corporeal albuginea at the base of the penis; and ventral cutaneous coverage. The long-term results were evaluated by the parents and the surgeon according to anatomical, functional and aesthetic criterion. Twenty-five boys were evaluated. The mean age at surgery was 27 months (seven days-120 months). Two children required an additional plasty. Results were satisfactory in 24 cases (96%). One child required a redo procedure for unsatisfactory outcome. Of seven children with redundant skin (28%), three underwent a complementary cutaneous excision. Congenital buried penis remains a controversial issue. Our technique was simple and easily reproducible. Voiding difficulties, urinary tract infection or strong parental request were the main indications of this surgery in our experience. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  8. Gastrointestinal Manifestations of Cystic Fibrosis

    Science.gov (United States)

    2016-01-01

    Cystic fibrosis has historically been considered a pulmonary disease, but with the increasing life expectancy of these patients, gastrointestinal manifestations are becoming more important. Furthermore, nutritional status is closely linked to pulmonary function and, thus, overall mortality. This article discusses gastrointestinal manifestations (which involve nutritional, pancreatic, hepatobiliary, and, in particular, gastrointestinal tract issues) of cystic fibrosis as well as management of the disease. In addition, the article discusses studies that have been critical to our understanding of gastrointestinal manifestations of cystic fibrosis. PMID:27330503

  9. Congenital heart defects, maternal homocysteine, smoking, and the 677 C>T polymorphism in the methylenetetrahydrofolate reductase gene: evaluating gene-environment interactions.

    Science.gov (United States)

    Hobbs, Charlotte A; James, S Jill; Jernigan, Stefanie; Melnyk, Stepan; Lu, Yunxia; Malik, Sadia; Cleves, Mario A

    2006-01-01

    This study was undertaken to investigate the association between congenital heart defects (CHD), and maternal homocysteine, smoking, and the MTHFR 677 C>T polymorphism. Plasma homocysteine concentrations, smoking status, and MTFHR 677 genotypes were determined in 275 white women who had pregnancies affected by CHDs and 118 white women who had a normal pregnancy. Homocysteine concentrations were significantly higher among women who had affected pregnancies (P T polymorphism increase the risk of having a CHD-affected pregnancy.

  10. Congenital Malaria in China

    Science.gov (United States)

    Liu, Xue; Culleton, Richard; Tao, Li; Xia, Hui; Gao, Qi

    2014-01-01

    Abstract Background Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria-endemic regions. It is recognized as a serious problem in Plasmodium falciparum–endemic sub-Saharan Africa, where recent data suggests that it is more common than previously believed. In such regions where malaria transmission is high, neonates may be protected from disease caused by congenital malaria through the transfer of maternal antibodies against the parasite. However, in low P. vivax–endemic regions, immunity to vivax malaria is low; thus, there is the likelihood that congenital vivax malaria poses a more significant threat to newborn health. Malaria had previously been a major parasitic disease in China, and congenital malaria case reports in Chinese offer valuable information for understanding the risks posed by congenital malaria to neonatal health. As most of the literature documenting congenital malaria cases in China are written in Chinese and therefore are not easily accessible to the global malaria research community, we have undertaken an extensive review of the Chinese literature on this subject. Methods/Principal Findings Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%), reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients were cured

  11. Congenital agminated melanocytic nevus--case report.

    Science.gov (United States)

    Rocha, Camila Roos Mariano da; 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.

  12. Congenital agminated melanocytic nevus - case report*

    Science.gov (United States)

    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

  13. Congenital cranial dysinnervation disorders.

    Science.gov (United States)

    Singh, Anupam; Pandey, P K; Agrawal, Ajai; Mittal, Sanjeev Kumar; Rana, Kartik Maheshbhai; Bahuguna, Chirag

    2017-12-01

    The European Neuromuscular Centre (ENMC) derived the term Congenital Cranial Dysinnervation Disorders in 2002 at an international workshop for a group of congenital neuromuscular diseases. CCDDs are congenital, non-progressive ophthalmoplegia with restriction of globe movement in one or more fields of gaze. This group of sporadic and familial strabismus syndromes was initially referred to as the 'congenital fibrosis syndromes' because it was assumed that the primary pathologic process starts in the muscles of eye motility. Over the last few decades, evidence has accumulated to support that the primary pathologic process of these disorders is neuropathic rather than myopathic. This is believed that for normal development of extra ocular muscles and for preservation of muscle fiber anatomy, normal intra-uterine development of the innervation to these muscles is essential. Congenital dysinnervation to these EOMs can lead to abnormal muscle structure depending upon the stage and the extent of such innervational defects. Over last few years new genes responsible for CCDD have been identified, permitting a better understanding of associated phenotypes, which can further lead to better classification of these disorders. Introduction of high-resolution MRI has led to detailed study of cranial nerves courses and muscles supplied by them. Thus, due to better understanding of pathophysiology and genetics of CCDDs, various treatment modalities can be developed to ensure good ocular alignment and better quality of life for patients suffering from the same.

  14. Employment in adults with congenital heart disease

    NARCIS (Netherlands)

    Kamphuis, M.; Vogels, T.; Ottenkamp, J.; Wall, E.E. van der; Verloove-Vanhorick, S.P.; Vliegen, H.W.

    2002-01-01

    Objective: To evaluate job participation, careerrelated problems, and actual job problems in adults with complex congenital heart disease (CHD) compared with adults with mild CHD and reference groups. Design: Cross-sectional study. Setting: Patients were randomly selected from the archives of the

  15. Employment in adults with congenital heart disease

    NARCIS (Netherlands)

    Kamphuis, Mascha; Vogels, Ton; Ottenkamp, Jaap; van der Wall, Ernst E.; Verloove-Vanhorick, S. Pauline; Vliegen, Hubert W.

    2002-01-01

    To evaluate job participation, career-related problems, and actual job problems in adults with complex congenital heart disease (CHD) compared with adults with mild CHD and reference groups. Cross-sectional study. Patients were randomly selected from the archives of the Department of Pediatric

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

    African Journals Online (AJOL)

    Objective: Our objective were to determine and evaluate the role of genetic counseling and amniocentesis in early detection of chromosomal abnormalities or congenital malformations among women at risk. Patients and Methods: The study was performed on 784 pregnant women. Results: The cause for seeking genetic ...

  17. Congenital syphilis as a notifiable disease

    African Journals Online (AJOL)

    Abstract A review of the notification of congenital syphilis at Johannesburg Hospital from 1 May 1991 to 30. April 1992 was conducted to evaluate the effect of the recently introduced notification programme. A total of209 Wassermann reaction (WR)-positive mothers were delivered during this time; 12 preg- nancies (5,7%) ...

  18. Congenital aniridia with cataract: case series

    OpenAIRE

    Wang, Jin Da; Zhang, Jing Shang; Xiong, Ying; Li, Jing; Li, Xiao Xia; Liu, Xue; Zhao, Jing; Tsai, Frank F.; Vishal, Jhanji; You, Qi Sheng; Huang, Yao; Wan, Xiu Hua

    2017-01-01

    Background This study evaluates patients with congenital aniridia and cataract who underwent phacoemulsification, capsular tension ring placement, and foldable intraocular lens implantation. Methods In this prospective case series, 10 patients (17 eyes) underwent cataract surgery via a 3.2?mm clear corneal incision. A continuous circular capsulorhexis with

  19. Congenital Rickets: Report of Four Cases

    Directory of Open Access Journals (Sweden)

    R Vakili

    2014-04-01

    Full Text Available Introduction: Vitamin D deficiency and rickets continue to be health problems in developing countries and most of the infants with congenital rickets may present with hypocalcemic seizure.   Case Report: In this article, the report on four infants who presented with hypocalcemic seizures but subsequently were found to have congenital rickets is presented. All of them had hypocalcaemia and low level of serum 25- hydroxy vitamin D. Their mothers had not received vitamin D supplementation during pregnancy and so evidence of vitamin D deficiency was presented.   Conclusion: Although current vitamin D supplementation guidelines for infants was effective in prevention of rickets in Iranian children, it is necessary to evaluate women before pregnancy to prevent this entity. Also infants without vitamin D supplementation therapy who present with seizures during the first 6 months of age should undergo biochemical and other investigations for rickets.   Keywords:Congenital rickets, Vitamin D deficiency, Hypocalcemia, Seizure.  

  20. Osteoporosis in Gastrointestinal Diseases.

    Science.gov (United States)

    Krela-Kaźmierczak, Iwona; Szymczak, Aleksandra; Łykowska-Szuber, Liliana; Eder, Piotr; Linke, Krzysztof

    2016-01-01

    Secondary osteoporosis occurs as an isolated pathology or co-exists with types I and II osteoporosis. The gastroenterologist may come across osteoporosis or osteopenia in a patient with a gastrointestinal disease. This is often a young patient in whom investigations should be carried out and appropriate treatment initiated, aimed at preventing bone fractures and the formation of the best peak bone mass. Osteoporosis occurs in patients with the following conditions: Crohn's disease, ulcerative colitis, celiac disease, post gastrectomy patients, patients with short bowel syndrome, chronic hepatitis and cirrhosis, treated with steroids (steroid-induced osteoporosis) and patients using proton pump inhibitors chronically (state of achlorhydria). It is therefore necessary to approve a list of risk factors of secondary osteoporosis, the presence of which would be an indication for screening for osteoporosis, including a DXA study and the development of a separate algorithm for the therapeutic management of secondary osteoporosis accompanying gastrointestinal diseases, especially in premenopausal young women and young men, because there are currently no registered drugs with proven antifracture activity for this group of patients.

  1. Congenital Diseases of the Intestine

    NARCIS (Netherlands)

    D. Halim (Danny)

    2016-01-01

    markdownabstractAll research described in this dissertation is focused on understanding the pathophysiology of three rare congenital diseases of the intestine, including megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS), congenital short bowel syndrome (CSBS), and hereditary multiple

  2. Review article: olestra and its gastrointestinal safety.

    Science.gov (United States)

    Thomson, A B; Hunt, R H; Zorich, N L

    1998-12-01

    Olestra is a fat substitute made from sucrose and vegetable oil. Olestra is neither digested nor absorbed, and therefore adds no calories or fat to the diet. Because the gut is the only organ that is exposed to olestra, the potential for olestra to affect gastrointestinal structure and function, and the absorption of nutrients from the gut, has been investigated. Histological evaluations performed after long-term feeding studies have shown no indications that olestra causes injury to the gastrointestinal mucosa. Olestra is not metabolized by the colonic microflora, and has no meaningful effects on the metabolic function of these organisms. Studies of gastrointestinal transit have shown that the consumption of olestra with food does not affect gastric emptying, or small or large bowel transit times. Olestra does not affect the absorption of macronutrients, water-soluble vitamins or minerals. It causes a dose-responsive decrease in the availability of the fat-soluble vitamins A, D, E and K; however, this potentially adverse effect is offset by the addition of vitamins to olestra-containing foods. Olestra has no consistent effect on the amount of total bile acids excreted in the faeces, and therefore probably has no significant effect on bile acid absorption. The occurrence of gastrointestinal symptoms, including diarrhoea, loose stools, gas and abdominal cramping, after consumption of olestra under ordinary snacking conditions is comparable to that following consumption of triglyceride-containing snacks.

  3. A Rare Cause of Haemorrhage in the Upper Gastrointestinal System: Bochdalek Hernia.

    Science.gov (United States)

    Cevizci, M N; Erdemir, G; Cayir, A

    2015-03-01

    Diaphragmatic hernia originates from insufficient closure of the pericardioperitoneal canals and pleuroperitoneal membranes. It is seen in one in every 4000 births. The general finding in the newborn period is respiratory difficulty. Mortality is 40-50%. There may be other accompanying organ anomalies. Congenital diaphragmatic hernias diagnosed after the newborn period are known as late-presenting congenital diaphragmatic hernias. This group is seen at a level of 5-20% and poses difficulty in diagnosis. This report describes a case under observation and receiving treatment for gastrointestinal haemorrhage, diagnosed as Bochdalek hernia.

  4. Congenital cataract screening

    Directory of Open Access Journals (Sweden)

    Zhale Rajavi

    2016-01-01

    Full Text Available Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  5. Congenital optic nerve anomalies.

    Science.gov (United States)

    Martín-Begué, N; Saint-Gerons, M

    2016-12-01

    To update the current knowledge about congenital optic disc anomalies. A comprehensive literature search was performed in the major biomedical databases. Patients with these anomalies usually have poor vision in infancy. Refractive errors are common, and serous retinal detachment may develop in some of these anomalies. It is critically important to clinically differentiate between these congenital optic disc anomalies, as central nervous system malformations are common in some, whereas others may be associated with systemic anomalies. Congenital optic disc anomalies are a heterogeneous group of pathologies with characteristic fundus appearance and systemic associations. We should always try to make a correct diagnosis, in order to ask for specific tests, as well as to provide an adequate follow-up. Copyright © 2016 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  6. Congenital syphilis: literature review

    Directory of Open Access Journals (Sweden)

    Eduardo Chaida Sonda

    2013-01-01

    Full Text Available Syphilis is an infectious disease caused by Treponema pallidum and has high rates of vertical transmission, which can reach 100% depending on the maternal disease and stage of pregnancy. The diagnosis of gestational syphilis is simple and its screening is required during the prenatal period. However, this disease still has a high prevalence, affecting two million pregnant women worldwide. The procedures performed in newborns with congenital syphilis represent costs that are three-fold higher than the ones spent with a baby without this infection. The treatment is generally carried out with penicillin and must be extended to sexual partners. Inadequate or lack of treatment of congenital syphilis can result in miscarriage, premature birth, acute complications and other fetal sequelae. KEYWORDS: Congenital syphilis. Treponema pallidum. Vertical transmission.

  7. Congenital syphilis in the newborn.

    OpenAIRE

    V; Chawla; Pandit, P B; Nkrumah, F K

    1988-01-01

    We studied 53 newborn babies with congenital syphilis. The common clinical features seen were low birth weight, hepatosplenomegaly, anaemia, jaundice, and symmetrical superficial desquamation of the skin affecting palms and soles. The presence of these clinical signs is highly suggestive of early congenital syphilis. Hydrops fetalis without rhesus or ABO isoimmunisation should always arouse the suspicion of congenital syphilis.

  8. Congenital Toxoplasmosis: A Review.

    Science.gov (United States)

    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.

  9. Congenital Hemolytic Anemia.

    Science.gov (United States)

    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. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. Congenital maxillary double lip

    Directory of Open Access Journals (Sweden)

    Dinesh Singh Chauhan

    2012-01-01

    Full Text Available Double lip, also referred to as "macrocheilia," is a rare anomaly which affects the upper lip more commonly than the lower lip. It consists of a fold of excess or redundant hypertrophic tissue on the mucosal side of the lip. The congenital double lip is believed to be present at birth and becomes more prominent after eruption of teeth. It affects esthetics and also interferes with speech and mastication. Simple surgical excision produces good functional and cosmetic results. We report a case of a non-syndromic congenital maxillary double lip in a 21-year-old male patient.

  11. Congenital laryngeal anomalies,

    Directory of Open Access Journals (Sweden)

    Michael J. Rutter

    2014-12-01

    Full Text Available Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the main aspects concerning airway management of infants will be analyzed. Conclusions: It is critical for clinicians to understand issues relevant to the airway management of infants.

  12. Congenital preduodenal portal vein

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Jin; Hwang, Mi Soo; Huh, Young Soo; Park, Bok Hwan [College of Medicine, Youngnam University, Gyeongsan (Korea, Republic of)

    1991-03-15

    Congenital preduodenal portal vein, first reported by Knight in 1921, is an extremely rare congenital anomaly in which the portal vein passes anteriorly to the duodenum rather than posteriorly in its normal location. It is of surgical significance because it may cause difficulties in operations involving the gall bladder, biliary duct, or duodenum. Recently, we experienced 2 cases of preduodenal portal vein. One was found during surgical exploration for the diagnosis and correction of malrotation of the bowels and the other in a 3 day-old male newborn associated with dextrocardia, situs inversus, and duodenal obstruction by diaphragm. We report these 2 cases with a review of the literature.

  13. Encapsulation of probiotic Bifidobacterium longum BIOMA 5920 with alginate-human-like collagen and evaluation of survival in simulated gastrointestinal conditions.

    Science.gov (United States)

    Su, Ran; Zhu, Xiao-Li; Fan, Dai-Di; Mi, Yu; Yang, Chan-Yuan; Jia, Xin

    2011-12-01

    Alginate (ALg)-human-like collagen (HLC) microspheres were prepared by the technology of electrostatic droplet generation in order to develop a biocompatible vehicle for probiotic bacteria. Microparticles were spherical with mean particle size of 400μm. The encapsulation efficiency (EE) of ALg-HLC microspheres could reach 92-99.2%. Water-soluble and fibrous human-like collagen is combined with sodium alginate through intermolecular hydrogen bonding and electrostatic force which were investigated by Fourier transform infrared spectroscopy (FTIR) and differential scanning calorimetry (DSC), thus the matrix of ALg-HLC was very stable. Bifidobacterium longum BIOMA 5920, as a kind of probiotic bacteria, was encapsulated with alginate-human-like collagen to survive and function in simulated gastrointestinal juice. Microparticles were very easy to degradation in simulated intestinal juices. After incubation in simulated gastric (pH 2.0, 2h), the encapsulated B. longum BIOMA 5920 numbers were 4.81 ± 0.38 log cfu/g. Copyright © 2011 Elsevier B.V. All rights reserved.

  14. A comprehensive evaluation of the gastrointestinal tract in iron-deficiency anemia with predefined hemoglobin below 9mg/dL: A prospective cohort study.

    Science.gov (United States)

    Bosch, Xavier; Montori, Elisabet; Guerra-García, Mar; Costa-Rodríguez, Jaime; Quintanilla, Mariano H; Tolosa-Chapasian, Paula E; Moreno, Pedro; Guasch, Neus; López-Soto, Alfons

    2017-04-01

    Anemia is defined as hemoglobin below the cutoff of normal in studies examining the gastrointestinal (GI) tract in iron-deficiency anemia (IDA). Although the risk of GI cancer (GIC) increases as hemoglobin decreases, guidelines do not usually recommend hemoglobin thresholds for IDA investigation. To elucidate whether underlying GI disorders explain the different hemoglobin values and clinical outcomes observed initially in IDA patients referred for GI workup, we prospectively investigated the diagnostic yield of a thorough GI examination in consecutive IDA adults with predefined hemoglobin hemoglobin values (6.3 [1.5] and 6.4 [1.3]g/dL, respectively). While the spread (diffuse vs. localized) and number (hemoglobin values were lower in GIC with vs. without ulcerated/friable lesions (6.0 [1.1] vs. 7.0 [1.2]g/dL, Phemoglobin values <9g/dL. Copyright © 2016 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

  15. New Evidence on the Impact of Antithrombotics in Patients Submitted to Small Bowel Capsule Endoscopy for the Evaluation of Obscure Gastrointestinal Bleeding

    Directory of Open Access Journals (Sweden)

    Pedro Boal Carvalho

    2014-01-01

    Full Text Available Objectives. Small bowel capsule endoscopy (SBCE plays a decisive role in the obscure gastrointestinal bleeding (OGIB diagnosis. Antithrombotics may increase bleeding risk in patients with preexistent lesions or through direct mucosal aggression. We aimed to correlate antithrombotics usage with lesions with bleeding potential found in SBCE. Methods. Retrospective single-center study including 274 consecutive SBCE performed over 7 years for OGIB. The lesions were classified as P0 (no bleeding potential, P1 (uncertain bleeding potential: erosions, and P2 (high bleeding potential: angioectasias, ulcers, and tumors. We assessed antiplatelet and anticoagulant drug use during the 60 days preceding SBCE. Results. One-third of the patients were under antithrombotic therapy. The diagnostic yield of SBCE for P2 lesions was 30.0%. Angioectasias (20.4% were the most frequently observed lesions. There was a significant correlation between anticoagulant drug use and a higher incidence of P2 lesions in the small bowel (43.2% versus 26.5%; OR = 2.11, P=0.026. We found no significant correlation between antiplatelets and lesions with bleeding potential in SBCE. Conclusions. Small bowel lesions with high bleeding potential were more frequently detected when the patient was on anticoagulant drugs, resulting in a twofold risk. Antiplatelet drugs were not associated with small bowel lesions.

  16. Development of prognostic model for predicting survival after retrograde placement of ureteral stent in advanced gastrointestinal cancer patients and its evaluation by decision curve analysis.

    Science.gov (United States)

    Kawano, Shingo; Komai, Yoshinobu; Ishioka, Junichiro; Sakai, Yasuyuki; Fuse, Nozomu; Ito, Masaaki; Kihara, Kazunori; Saito, Norio

    2016-10-01

    The aim of this study was to determine risk factors for survival after retrograde placement of ureteral stents and develop a prognostic model for advanced gastrointestinal tract (GIT: esophagus, stomach, colon and rectum) cancer patients. We examined the clinical records of 122 patients who underwent retrograde placement of a ureteral stent against malignant extrinsic ureteral obstruction. A prediction model for survival after stenting was developed. We compared its clinical usefulness with our previous model based on the results from nephrostomy cases by decision curve analysis. Median follow-up period was 201 days (8-1490) and 97 deaths occurred. The 1-year survival rate in this cohort was 29%. Based on multivariate analysis, primary site of colon origin, absence of retroperitoneal lymph node metastasis and serum albumin >3g/dL were significantly associated with a prolonged survival time. To develop a prognostic model, we divided the patients into 3 risk groups of favorable: 0-1 factors (N.=53), intermediate: 2 risk factors (N.=54), and poor: 3 risk factors (N.=15). There were significant differences in the survival profiles of these 3 risk groups (P<0.0001). Decision curve analyses revealed that the current model has a superior net benefit than our previous model for most of the examined probabilities. We have developed a novel prognostic model for GIT cancer patients who were treated with retrograde placement of a ureteral stent. The current model should help urologists and medical oncologists to predict survival in cases of malignant extrinsic ureteral obstruction.

  17. Performance measures for lower gastrointestinal endoscopy: a European Society of Gastrointestinal Endoscopy (ESGE) Quality Improvement Initiative.

    Science.gov (United States)

    Kaminski, Michal F; Thomas-Gibson, Siwan; Bugajski, Marek; Bretthauer, Michael; Rees, Colin J; Dekker, Evelien; Hoff, Geir; Jover, Rodrigo; Suchanek, Stepan; Ferlitsch, Monika; Anderson, John; Roesch, Thomas; Hultcranz, Rolf; Racz, Istvan; Kuipers, Ernst J; Garborg, Kjetil; East, James E; Rupinski, Maciej; Seip, Birgitte; Bennett, Cathy; Senore, Carlo; Minozzi, Silvia; Bisschops, Raf; Domagk, Dirk; Valori, Roland; Spada, Cristiano; Hassan, Cesare; Dinis-Ribeiro, Mario; Rutter, Matthew D

    2017-04-01

    The European Society of Gastrointestinal Endoscopy and United European Gastroenterology present a short list of key performance measures for lower gastrointestinal endoscopy. We recommend that endoscopy services across Europe adopt the following seven key performance measures for lower gastrointestinal endoscopy for measurement and evaluation in daily practice at a center and endoscopist level: 1 Rate of adequate bowel preparation (minimum standard 90 %); 2 Cecal intubation rate (minimum standard 90 %); 3 Adenoma detection rate (minimum standard 25 %); 4 Appropriate polypectomy technique (minimum standard 80 %); 5 Complication rate (minimum standard not set); 6 Patient experience (minimum standard not set); 7 Appropriate post-polypectomy surveillance recommendations (minimum standard not set). Other identified performance measures have been listed as less relevant based on an assessment of their importance, scientific acceptability, feasibility, usability, and comparison to competing measures. © Georg Thieme Verlag KG Stuttgart · New York.

  18. Utility of dual source CT with ECG-triggered high-pitch spiral acquisition (Flash Spiral Cardio mode) to evaluate morphological features of ventricles in children with complex congenital heart defects.

    Science.gov (United States)

    Nakagawa, Motoo; Ozawa, Yoshiyuki; Nomura, Norikazu; Inukai, Sachiko; Tsubokura, Satoshi; Sakurai, Keita; Shimohira, Masashi; Ogawa, Masaki; Shibamoto, Yuta

    2016-04-01

    We evaluated the ability of dual source CT (DSCT) with ECG-triggered high-pitch spiral acquisition (Flash Spiral Cardio mode) to depict the morphological features of ventricles in pediatric patients with congenital heart defects (CHD). Between July 2013 and April 2015, 78 pediatric patients with CHD (median age 4 months) were examined using DSCT with the Flash Spiral Cardio mode. The types of ventricular abnormalities were ventricular septal defect (VSD) in 42 (the malaligned type in 11, perimembranous type in 23, supracristal type in 2, atrioventricular type in 2, and muscular type in 4), single ventricle (SV) in 11, and congenital corrected transposition of the great arteries (ccTGA) in 4. We evaluated the accuracy of the diagnosis of the VSD type. In cases of SV and ccTGA, we assessed the detectability of the anatomical features of both ventricles for a diagnosis of ventricular situs. DSCT confirmed the diagnoses for all VSDs. The type of defect was precisely diagnosed for all patients. The anatomical features of both ventricles were also depicted and ventricular situs of SV and ccTGA was correctly diagnosed. The results suggest that DSCT has the ability to clearly depict the configuration of ventricles.

  19. Care of Acute Gastrointestinal Conditions in the Observation Unit.

    Science.gov (United States)

    Ham, Jason J; Ordonez, Edgar; Wilkerson, R Gentry

    2017-08-01

    The Emergency Department Observation Unit (EDOU) provides a viable alternative to inpatient admission for the management of many acute gastrointestinal conditions with additional opportunities of reducing resource utilization and reducing radiation exposure. Using available evidence-based criteria to determine appropriate patient selection, evaluation, and treatment provides higher-quality medical care and improved patient satisfaction. Discussions of factors involved in creating an EDOU capable of caring for acute gastrointestinal conditions and clinical protocol examples of acute appendicitis, gastrointestinal hemorrhage, and acute pancreatitis provide a framework from which a successful EDOU can be built. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. Obesity and Gastrointestinal Diseases

    Directory of Open Access Journals (Sweden)

    Ai Fujimoto

    2013-01-01

    Full Text Available The prevalence of obesity in the Japanese population has been increasing dramatically in step with the Westernization of lifestyles and food ways. Our study demonstrated significant associations between obesity and a number of gastrointestinal disorders in a large sample population in Japan. We demonstrated that reflux esophagitis and hiatal hernia were strongly related to obesity (BMI > 25 in the Japanese. In particular, obesity with young male was a high risk for these diseases. On the other hand, it has been reported that obesity is also associated with Barrett’s esophagus and colorectal adenoma; however, obesity was not a risk factor for these diseases in our study. The difference of ethnicity of our subjects may partly explain why we found no data to implicate obesity as a risk factor for Barrett’s esophagus. Arterial sclerosis associated with advanced age and hyperglycemia was accompanied by an increased risk of colorectal adenoma.

  1. Estrogen and gastrointestinal malignancy.

    LENUS (Irish Health Repository)

    Hogan, A M

    2012-02-01

    The concept that E2 exerts an effect on the gastrointestinal tract is not new and its actions on intestinal mucosa have been investigated for at least three decades. An attempt to consolidate results of these investigations generates more questions than answers, thus suggesting that many unexplored avenues remain and that the full capabilities of this steroid hormone are far from understood. Evidence of its role in esophageal, gastric and gallbladder cancers is confusing and often equivocal. The most compelling evidence regards the protective role conferred by estrogen (or perhaps ERbeta) against the development and proliferation of colon cancer. Not only has the effect been described but also many mechanisms of action have been explored. It is likely that, along with surgery, chemotherapy and radiotherapy, hormonal manipulation will play an integral role in colon cancer management in the very near future.

  2. Rosacea and gastrointestinal disorders

    DEFF Research Database (Denmark)

    Egeberg, A; Weinstock, L B; Thyssen, E P

    2017-01-01

    BACKGROUND: Rosacea is a common inflammatory facial skin condition. Recent genetic and epidemiological studies have suggested pathogenic links between rosacea and gastrointestinal disorders, but data are limited. OBJECTIVES: The objective was to investigate the association between rosacea...... and coeliac disease (CeD), Crohn disease (CD), ulcerative colitis (UC), Helicobacter pylori infection (HPI), small intestinal bacterial overgrowth (SIBO) and irritable bowel syndrome (IBS), respectively. METHODS: We performed a nationwide cohort study. A total of 49 475 patients with rosacea and 4 312 213...... with rosacea. RESULTS: The prevalence of CeD, CD, UC, HPI, SIBO and IBS, respectively, was higher among patients with rosacea when compared with the control subjects. Adjusted HRs revealed significant associations between rosacea and CeD (HR 1·46, 1·11-1·93), CD (HR 1·45, 1·19-1·77), UC (HR 1·19, 1...

  3. Congenital anomalies among live births in a polluted area. A ten-year retrospective study

    Directory of Open Access Journals (Sweden)

    Gianicolo Emilio Antonio Luca

    2012-12-01

    Full Text Available Abstract Background Congenital anomalies and their primary prevention are a crucial public health issue. This work aimed to estimate the prevalence of congenital anomalies in Brindisi, a city in southeastern Italy at high risk of environmental crisis. Methods This research concerned newborns up to 28 days of age, born between 2001 and 2010 to mothers resident in Brindisi and discharged with a diagnosis of congenital anomaly. We classified cases according to the coding system adopted by the European Network for the Surveillance of Congenital Anomalies (EUROCAT. Prevalence rates of congenital anomalies in Brindisi were compared with those reported by EUROCAT. Logistic regression models were adapted to evaluate the association between congenital anomalies and municipality of residence of the mother during pregnancy. Results Out of 8,503 newborns we recorded 194 subjects with congenital anomalies (228.2/10,000 total births, 1.2 times higher than the one reported by the EUROCAT pool of registries. We observed 83 subjects with congenital heart diseases with an excess of 49.1%. Odds Ratios for congenital heart diseases significantly increased for newborns to mothers resident in Brindisi (OR 1.75 CI 95% 1.30-2.35. Conclusions Our findings indicated an increased prevalence of Congenital Anomalies (especially congenital heart diseases in the city of Brindisi. More research is needed in order to analyze the role of factors potentially involved in the causation of congenital anomalies.

  4. Congenital Malformations Associated with Maternal Diabetes

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2005-03-01

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

  5. The congenital cranial dysinnervation disorders.

    Science.gov (United States)

    Gutowski, N J; Chilton, J K

    2015-07-01

    Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Möbius syndrome, congenital ptosis and hereditary congenital facial paresis. These are congenital disorders where the primary findings are non-progressive and are caused by developmental abnormalities of cranial nerves/nuclei with primary or secondary dysinnervation. Several CCDD genes have been found, which enhance our understanding of the mechanisms involved in brain stem development and axonal guidance. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  6. [Dysphagia after introduction of solid food: typical presentation of congenital oesophageal stenosis].

    Science.gov (United States)

    Kockelkoren, Esther; Sleeboom, Christien; van der Voorn, J Patrick; Wilde, Jim C H; Koot, Bart G P; Kneepkens, C M Frank

    2012-01-01

    Congenital oesophageal stenosis is a rare cause of food passage symptoms in infants. It has a typical presentation with symptoms of dysphagia of solid food, starting at the time of introducing supplementary feeding. We present a 6-month-old girl, who started spitting and coughing and had a slower growth rate after the introduction of solid food. Using upper gastrointestinal tract radiography, oesophagogastroscopy and histopathological examination, a congenital oesophageal stenosis due to tracheobronchial remnants was demonstrated. The stenosis was surgically removed. This case description is typical for congenital oesophageal stenosis. Early recognition of the typical presentation of congenital oesophageal stenosis can prevent unnecessary investigation and delay in treatment. Surgical resection of the stenotic oesophageal segment usually results in full recovery.

  7. The skeleton in congenital, generalized lipodystrophy: evaluation using whole-body radiographic surveys, magnetic resonance imaging and technetium-99m bone scintigraphy

    Energy Technology Data Exchange (ETDEWEB)

    Fleckenstein, J.L.; Bonte, F.J. (Univ. of Texas Southwestern Medical Center, Dallas, TX (United States). Dept. of Radiology); Garg, A. (Univ. of Texas Southwestern Medical Center, Dallas, TX (United States). Dept. of Internal Medicine); Vuitch, M.F. (Univ. of Texas Southwestern Medical Center, Dallas, TX (United States). Dept. of Pathology); Peshock, R.M. (Univ. of Texas Southwestern Medical Center, Dallas, TX (United States). Dept. of Radiology Univ. of Texas Southwestern Medical Center, Dallas, TX (United States). Dept. of Internal Medicine)

    1992-08-01

    Congenital generalized lipodystrophy (CGL) is a rare genetic disease characterized by the absence of body fat from birth. Focal bone lesions have also been reported, but their pathophysiology is poorly understood. To characterize skeletal abnormalities further in 3 patients with CGL, we employed whole-body radiographic skeletal surveys, magnetic resonance imaging (MRI, including gadolinium enhancement), and triple phase technetium-99m methylene diphosphonate bone scintigraphy. We conclude that the appendicular skeleton of patients with CGL is diffusely abnormal and is predisposed to focal osteolysis and cyst formation. (orig./DG).

  8. Congenital Lumbar Hernia

    OpenAIRE

    Sanjay Sharma; Gagan Bali; Satish Parihar; Neeraj Koul

    2008-01-01

    Lumbar hernia is a rare hernia. It constitutes less than one percent of all abdominal hernias. It can becongenital or acquired. Acquired can occur either spontaneously or after surgery or trauma. Only 300cases of lumbar hernia are reported till date. We report a case of congenital lumbar hernia in one month oldmale baby

  9. CONGENITAL URETHROPERINEAL FISTULA: REPORT

    African Journals Online (AJOL)

    CONGENiTAL URETHROPERINEAL FISTULA l8 A'DISTINCT TYPE OF URETHRAL DUPLlCATION. gram revealed a normal dorsal urethra and failed to opacity the fistulous tract, but the fis- tula was demonstrated by injection of contrast through the perineal orifice (tistulogram). Cystourethroscopy revealed a normal dor~.

  10. Congenital heart disease

    Science.gov (United States)

    ... for acne, chemicals, alcohol, and infections (such as rubella ) during pregnancy can contribute to some congenital heart problems. Poorly ... medicines. Have a blood test early in your pregnancy to see if you are immune to rubella. If you are not immune, avoid any possible ...

  11. EAMJ March -Congenital

    African Journals Online (AJOL)

    iMac User

    INTRODUCTION. Mild degrees of congenital lymphoedema are considered common in the normal population, reflecting normal developmental variability in the regression of the lymphoedema present in every fetus before birth (1). The most common clinical causes of lymphedema are generally not inherited, occurring as.

  12. Severe congenital neutropenia

    DEFF Research Database (Denmark)

    Borregaard, Niels

    2014-01-01

    In this issue of Blood, Tidwell et al1 demonstrate that mutations in the start codon (protein synthesis is initiated at the codon ATG) of neutrophil elastase (ELANE) result in the production of N-terminally truncated elastase, which mislocates to the nucleus and results in severe congenital neutr...... neutropenia (SCN)....

  13. Multiple congenital cranial hemangiomas

    Energy Technology Data Exchange (ETDEWEB)

    Koulouris, George [Alfred Hospital, Department of Radiology, Prahran, Victoria (Australia); Rao, Padma [Royal Children' s Hospital, Department of Radiology, Parkville, Victoria (Australia)

    2005-08-01

    Though cranial hemangiomas are second only to vertebral hemangiomas in frequency, such lesions are rarely congenital and multiple. It is probable that the true incidence of congenital calvarial hemangiomas is higher than that reported in the literature, as they are unlikely to undergo imaging, most being asymptomatic and without a significant soft tissue component. We present a case of multiple congenital calvarial and skull base cavernous-type hemangiomas, diagnosed in a 4-day-old female, involving the right zygoma, maxilla, frontal and petrous temporal bones and contralateral squamous temporal bone. Surgical biopsy confirmed the radiological diagnosis as well as the concomitant multiple subcutaneous capillary-type hemangiomas which were identified clinically. No specific clinical syndrome or chromosomal abnormality was identified and the underlying cerebral parenchyma was normal with no intra-axial involvement. With conservative treatment, two lesions completely resolved and a further two lesions subsequently decreased in both size and degree of enhancement. To the best of our knowledge, this is the first case of multiple congenital hemangiomas involving the calvarium and skull base. Despite this, the radiological features, combined with the clinical findings of multiple capillary hemangiomas, were characteristic enough to permit an accurate preoperative diagnosis. Osseous hemangiomas should feature prominently in any differential diagnosis of multiple hypervascular lesions, as they are common, more so when limited to an anatomical region, irrespective of site or age. (orig.)

  14. EAMJ March -Congenital

    African Journals Online (AJOL)

    iMac User

    the intestines, but were also found in the pleura, pericardium, thyroid gland, and kidney. Several patients demonstrated congenital cardiac and blood vessel anomalies, pointing to a disturbance of angiogenesis in at least some of the patients. Facial features were variable, and were chiefly characterised, in a typical patient, ...

  15. Congenital Heart Defects

    Science.gov (United States)

    ... of the heart. It is present at birth. Congenital heart defects are the most common type of birth defect. The defects can involve the ... and heart transplants. The treatment depends on the type of the defect, how ... and general health. NIH: National Heart, Lung, and Blood Institute

  16. Congenital aggressive lipomatosis

    Energy Technology Data Exchange (ETDEWEB)

    Lachmann, R.S.; Mehringer, C.M.; Finklestein, J.; Maenza, R.

    1983-05-01

    Three cases of congenital lipomatosis involving the thoracic region posteriorly are presented delineating the natural history of the disease and depicting underlying bone and soft tissue changes. The rib widening and pleural thickening appear to be related to increased intercostal vascularity feeding the overlying tumor, as delineated by angiography. This entity is not described in the radiologic literature.

  17. EAMJ Congenital.indd

    African Journals Online (AJOL)

    2010-02-02

    Feb 2, 2010 ... Congenital afibrinogenaemia (CA), is a rare inherited bleeding disorder characterised by complete deficiency of fibrinogen in the plasma. Blood clotting tests are indefinitely prolonged in patients. The mode of inheritance is autosomal recessive. Typically patients present with excessive cord bleeding after ...

  18. Congenital syphilis who risk?

    African Journals Online (AJOL)

    1989-08-05

    Aug 5, 1989 ... The prevalence of syphilis (or positive serology) in pregnant mothers delivering at Baragwanath Hospital, Johannesburg, was assessed in order to try to establish the prevalence of congenital syphilis and possibly to identify a specific popula- tion at risk. From August 1985 to January 1986 all mothers.

  19. Congenital Short QT Syndrome

    Directory of Open Access Journals (Sweden)

    Johnson Francis

    2016-01-01

    Full Text Available Congenital short QT syndrome (SQTS is characterised by extremely short QT intervals, typically with QTc less than 330 ms and a propensity for life threatening ventricular arrhythmias and atrial fibrillation. The QT interval in SQTS does not change significantly with heart rate and the T waves have a narrow base and high voltage, similar to those in hyperkalemia.

  20. Classic congenital adrenal hyperplasia.

    Science.gov (United States)

    Nermoen, Ingrid; Husebye, Eystein S; Myhre, Anne Grethe; Løvås, Kristian

    2017-04-01

    Congenital adrenal hyperplasia is attributed to inherited enzyme defects in the adrenal cortex. The classical form results in reduced production of cortisol and aldosterone, accompanied by an increase in production of adrenal cortical androgens. This causes virilisation in girls, adrenocortical failure and early puberty in both sexes. This article describes the genetics, clinical picture, diagnostics and treatment.

  1. Evaluation of Eucalyptus citriodora essential oil on goat gastrointestinal nematodes Avaliação do óleo essencial de Eucalyptus citriodora sobre nematóides gastrintestinais de caprinos

    Directory of Open Access Journals (Sweden)

    Iara Tersia Freitas Macedo

    2011-09-01

    Full Text Available Phytotherapy may be an alternative strategy for controlling gastrointestinal parasites. This study evaluated the anthelmintic efficacy of Eucalyptus citriodora essential oil (EcEO. The in vitro effects of EcEO were determined through testing the inhibition of egg hatching and larval development of Haemonchus contortus. EcEO was subjected to acute toxicity testing on mice, orally and intraperitoneally. The in vivo effects of EcEO were determined by the fecal egg count reduction test (FECRT in goats infected with gastrointestinal nematodes. The results showed that 5.3 mg.mL-1 EcEO inhibited egg hatching by 98.8% and 10.6 mg.mL-1 EcEO inhibited H. contortus larval development by 99.71%. The lethal doses for 50% of the mice were 4153 and 622.8 mg.kg-1, for acute toxicity orally and intraperitoneally. In the FECRT, the efficacy of EcEO and ivermectin was 66.25 and 79.16% respectively, on goat gastrointestinal nematodes eight days after treatment. EcEO showed in vitro and in vivo anthelmintic activity.Fitoterapia pode ser uma estratégia alternativa para o controle de parasitas gastrintestinais. Este estudo avaliou a eficácia anti-helmintica do óleo essencial de Eucalyptus citriodora (OeEc. Os efeitos in vitro do OeEc foram determinados através do teste de eclosão de ovos e inibição do desenvolvimento larvar de Haemonchus contortus. O OeEc foi submetido ao teste de toxicidade aguda oral e intraperitoneal, em camundongos. Os efeitos in vivo do OeEc foram avaliados através do teste de redução da contagem de ovos nas fezes (FECRT com caprinos infectados com nematóides gastrintestinais. Os resultados mostraram que 5,3 mg.mL-1 OeEc inibiram 98,8% a eclosão de ovos e 10,6 mg.mL-1 OeEc inibiram 99,71% o desenvolvimento larvar de H. contortus. As doses letais para 50% dos camundongos foram de 4153 e 622,8 mg.kg-1 pela via oral e intraperitoneal. No FECRT, a eficácia de OeEc e ivermectina foi de 66,25 e 79,16%, respectivamente, em caprinos 8 dias

  2. [Evaluation of usefulness of the enzyme-linked immunosorbent assay (ELISA) for the detection of antibodies to lipopolysaccharides of Enterohemorrhagic Escherichia coli (EHEC) strains in patients with gastrointestinal disorders and patients with hemolytic uremic syndrome].

    Science.gov (United States)

    2014-01-01

    Enterohemorrhagic Escherichia coli (EHEC) strains are an important zoonotic food-borne and waterborne pathogens causing diarrhea and the severe hemolytic uremic syndrome (HUS) in humans. The aim of the study was to evaluate the usefulness of enzyme immunoassay ELISA for detection of antibodies to the lipopolysaccharides (LPS) of EHEC in patients with gastrointestinal disorders and patients with hemolytic-uremic syndrome. Sera obtained from 526 patients with gastrointestinal disorders, 26 patients with HUS and 74 patients with different bacterial gastroenteritis infections were screened by an LPS-based ELISA. The LPS antigens of EHEC belonging to serogroups O26, O103, O104, O111, O121, O145, and O157 were obtained by modified Boivin's method. Additionally, to determine the cut-off level, the 122 sera from healthy people were tested. Cellular extract from E. coli O14 were used to remove by absorption antibodies to the Enterobacteriaceae Common Antigen (ECA). Generally, seroprevalence of antibodies to the LPS of different EHEC serogroups in patients with gastrointestinal disorders was low. Additionally, interpretation of the some positive results was difficult to the fact of many serological mutual interactions. Particularly a lot of cross-reactions were seen in the group of sera obtained from patients with different bacterial gastroenteritis infections. The study showed also that in most cases the absorption of antibodies to the ECA had no significant effect on the cross-reactions observed in ELISA. On the other hand, the very high level of antibodies to the LPS antigen of E. coli O26 was found in 5 patients, to E. coli O157 in 4 patients, to E. coli O104 and O145 in 3 patients and E. coli O111 in 2 patients with HUS. Analysis of antibody levels in paired sera taken 2-3 weeks apart obtained from six HUS patients showed a rapid decline of antibody levels to the LPS antigens. The results showed the usefulness of the ELISA with lipopolysaccharides antigens to

  3. Imaging of gastrointestinal and hepatic diseases during pregnancy.

    LENUS (Irish Health Repository)

    Hodnett, Philip A

    2012-02-03

    Imaging of the abdomen for suspected gastrointestinal and hepatic disease during pregnancy is assuming greater importance. Like clinical evaluation, imaging of the abdomen and pelvis is challenging but is vitally important to prevent delayed diagnosis or unnecessary interventions. Also choice of imaging modality is influenced by factors which could impact on fetal safety such as the use of ionising radiation and magnetic resonance imaging. This article discusses important issues in imaging of gastrointestinal and hepatic disease in pregnancy and the puerperium.

  4. Severe gastrointestinal bleeding in association in myocardical infarction treatment.

    OpenAIRE

    Fukanová, Lenka

    2010-01-01

    Author: Lenka Fukanová Title: Severe gastrointestinal bleeding in association in myocardical infarction treatment Diploma thesis Charles University in Prague Pharmaceutical faculty in Hradec Králové Study field: Pharmacy ABSTRACT Objective: One of severe complications during the treatment of myocardial infarction can be haemorrhage into the digestive system. Aim of the study: Evaluation of gastrointestinal hemorrhage in association with different therapeutic strategies of myocardial infarctio...

  5. Carbon monoxide in gastrointestinal physiology and its potential in therapeutics

    Science.gov (United States)

    Gibbons, Simon J.; Verhulst, Pieter-Jan; Bharucha, Adil; Farrugia, Gianrico

    2013-01-01

    Background While carbon monoxide (CO) is a known toxin, it is now recognized that CO is also an important signaling molecule involved in physiology and pathophysiology. Aims To summarize our current understanding of the role of endogenous CO in the regulation of gastrointestinal physiology and pathophysiology and potential therapeutic applications of modulating CO. Methods This review is based on a comprehensive search of the Ovid Medline comprehensive database and supplemented by our ongoing studies evaluating the role of CO in gastrointestinal physiology and pathophysiology. Results CO derived from heme oxygenase-2 is predominantly involved in neuromodulation and in setting the smooth muscle membrane potential while CO derived from heme oxygenase-1 has anti-inflammatory and anti-oxidative properties which protect gastrointestinal smooth muscle from damage caused by injury or inflammation. Exogenous CO is being explored as a therapeutic agent in a variety of gastrointestinal disorders including diabetic gastroparesis, postoperative ileus, organ transplantation, inflammatory bowel disease and sepsis. However, identifying the appropriate mechanism for safely delivering CO in humans is a major challenge. Conclusions CO is an important regulator of gastrointestinal function and protects the gastrointestinal tract against noxious injury. CO is a promising therapeutic target in conditions associated with gastrointestinal injury and inflammation. Elucidating the mechanisms by which CO works and developing safe CO delivery mechanisms are necessary to refine therapeutic strategies. PMID:23992228

  6. Relationship between TBX20 gene polymorphism and congenital heart disease.

    Science.gov (United States)

    Yang, X F; Zhang, Y F; Zhao, C F; Liu, M M; Si, J P; Fang, Y F; Xing, W W; Wang, F L

    2016-06-02

    Congenital heart disease in children is a type of birth defect. Previous studies have suggested that the transcription factor, TBX20, is involved in the occurrence and development of congenital heart disease in children; however, the specific regulatory mechanisms are yet to be evaluated. Hence, this study aimed to evaluate the relationship between the TBX20 polymorphism and the occurrence and development of congenital heart disease. The TBX20 gene sequence was obtained from the NCBI database and the polymorphic locus candidate was predicted. Thereafter, the specific gene primers were designed for the restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) of DNA extracted from the blood of 80 patients with congenital heart disease and 80 controls. The results of the PCR were subjected to correlation analysis to identify the differences between the amplicons and to determine the relationship between the TBX20 gene polymorphism and congenital heart disease. One of the single nucleotide polymorphic locus was found to be rs3999950: c.774T>C (Ala265Ala). The TC genotype frequency in the patients was higher than that in the controls, similar to that for the C locus. The odds ratio of the TC genotypes was above 1, indicating that the presence of the TC genotype increases the incidence of congenital heart diseases. Thus, rs3999950 may be associated with congenital heart disease, and TBX20 may predispose children to the defect.

  7. Computer-assisted radiographic calculation of spinal curvature in brachycephalic "screw-tailed" dog breeds with congenital thoracic vertebral malformations: reliability and clinical evaluation.

    Directory of Open Access Journals (Sweden)

    Julien Guevar

    Full Text Available The objectives of this study were: To investigate computer-assisted digital radiographic measurement of Cobb angles in dogs with congenital thoracic vertebral malformations, to determine its intra- and inter-observer reliability and its association with the presence of neurological deficits. Medical records were reviewed (2009-2013 to identify brachycephalic screw-tailed dog breeds with radiographic studies of the thoracic vertebral column and with at least one vertebral malformation present. Twenty-eight dogs were included in the study. The end vertebrae were defined as the cranial end plate of the vertebra cranial to the malformed vertebra and the caudal end plate of the vertebra caudal to the malformed vertebra. Three observers performed the measurements twice. Intraclass correlation coefficients were used to calculate the intra- and inter-observer reliabilities. The intraclass correlation coefficient was excellent for all intra- and inter-observer measurements using this method. There was a significant difference in the kyphotic Cobb angle between dogs with and without associated neurological deficits. The majority of dogs with neurological deficits had a kyphotic Cobb angle higher than 35°. No significant difference in the scoliotic Cobb angle was observed. We concluded that the computer assisted digital radiographic measurement of the Cobb angle for kyphosis and scoliosis is a valid, reproducible and reliable method to quantify the degree of spinal curvature in brachycephalic screw-tailed dog breeds with congenital thoracic vertebral malformations.

  8. Computer-assisted radiographic calculation of spinal curvature in brachycephalic "screw-tailed" dog breeds with congenital thoracic vertebral malformations: reliability and clinical evaluation.

    Science.gov (United States)

    Guevar, Julien; Penderis, Jacques; Faller, Kiterie; Yeamans, Carmen; Stalin, Catherine; Gutierrez-Quintana, Rodrigo

    2014-01-01

    The objectives of this study were: To investigate computer-assisted digital radiographic measurement of Cobb angles in dogs with congenital thoracic vertebral malformations, to determine its intra- and inter-observer reliability and its association with the presence of neurological deficits. Medical records were reviewed (2009-2013) to identify brachycephalic screw-tailed dog breeds with radiographic studies of the thoracic vertebral column and with at least one vertebral malformation present. Twenty-eight dogs were included in the study. The end vertebrae were defined as the cranial end plate of the vertebra cranial to the malformed vertebra and the caudal end plate of the vertebra caudal to the malformed vertebra. Three observers performed the measurements twice. Intraclass correlation coefficients were used to calculate the intra- and inter-observer reliabilities. The intraclass correlation coefficient was excellent for all intra- and inter-observer measurements using this method. There was a significant difference in the kyphotic Cobb angle between dogs with and without associated neurological deficits. The majority of dogs with neurological deficits had a kyphotic Cobb angle higher than 35°. No significant difference in the scoliotic Cobb angle was observed. We concluded that the computer assisted digital radiographic measurement of the Cobb angle for kyphosis and scoliosis is a valid, reproducible and reliable method to quantify the degree of spinal curvature in brachycephalic screw-tailed dog breeds with congenital thoracic vertebral malformations.

  9. GASTROINTESTINAL MANIFESTATIONS OF MITOCHONDRIAL DYSFUNCTION

    Directory of Open Access Journals (Sweden)

    A. A. Ziganshina

    2016-01-01

    Full Text Available Objective: to highlight the current concepts of gastrointestinal manifestations of mitochondrial dysfunction. The data available in Russian and foreign literature on the gastrointestinal manifestations of mitochondrial dysfunction were analyzed. Functional digestive diseases are common in pediatric practice; however, their etiopathogenesis has not been adequately explored today. According to the literature, impaired cellular energy metabolism may underlie gastrointestinal motility disorders in cyclic vomiting syndrome, gastroesophageal reflux, gastric stasis, chronic diarrhea, constipation, intestinal pseudoobstruction, malabsorption syndrome, irritable bowel syndrome, as well as diseases of the liver and pancreas.

  10. Late presentation of congenital diaphragmatic hernia: A diagnostic dilemma

    Directory of Open Access Journals (Sweden)

    Dinesh Gurung

    2016-07-01

    Full Text Available Congenital diaphragmatic hernias are commonly symptomatic within 24 hours after birth, but late presentation is not uncommon. Late presentation of congenital diaphragmatic hernia poses diagnostic difficulties as clinical picture are vague, and more commonly presented with non-specific gastrointestinal and respiratory symptoms. Due to the vague and non-specific clinical presentation, clinician faces a diagnostic dilemma resulting in delay in diagnosis and many a times an inappropriate management. This article reports 2 cases of late-presenting congenital diaphragmatic hernia (over the period of 6 months from September 2014 to February 2015 in National Institute of Disease of Chest and Hospital (NIDCH. In first case, she was diagnosed as right-sided tubercular pleural effusion and was treated with CAT-1 anti-tubercular therapy for 6 months without any clinical improvement. Later CT scan of chest was done and diagnosed as a case of congenital diaphragmatic hernia. The second case was diagnosed as a left-sided hydropneumothorax and treated with left tube thoracostomy. During removal of the intercostal chest tube, some fatty tissue was pulled out of the thoracostomy site. In NIDCH, she was diagnosed as a case of diaphragmatic hernia by barium follow-through. Both cases were diagnosed as Bochdalek hernia during the repair of the hernia defect via thoracotomy.

  11. Estimated Costs of Sporadic Gastrointestinal Illness ...

    Science.gov (United States)

    BACKGROUND: The ·burden of illness can be described by addressing both incidence and illness severity attributable to water recreation. Monetized as cost. attributable disease burden estimates can be useful for environmental management decisions. OBJECTIVES: We characterize the disease burden attributable to water recreation using data from two cohort studies using a cost of illness (COI) approach and estimate the largest drivers of the disease burden of water recreation. METHODS: Data from the NEEAR study, which evaluated swimming and wading in marine and freshwater beaches in six U.S. states, and CHEERS, which evaluated illness after incidental-contact recreation (boating, canoeing, fishing, kayaking, and rowing) on waterways in the Chicago area, were used to estimate the cost per case of gastrointestinal illness and costs attributable to water recreation. Data on health care and medication utilization and missed days of work or leisure were collected and combined with cost data to construct measures of COI. RESULTS: Depending on different assumptions, the cost of gastrointestinal symptoms attributable to water recreation are estimated to be $1,220 for incidental-contact recreation (range $338-$1,681) and $1,676 for swimming/wading (range $425-2,743) per 1,000 recreators. Lost productivity is a major driver of the estimated COI, accounting for up to 90% of total costs. CONCLUSIONS: Our estimates suggest gastrointestinal illness attributed to surface water rec

  12. Splenosis with lower gastrointestinal bleeding mimicking colonical gastrointestinal stromal tumour

    OpenAIRE

    Xiao, Shuo-meng; Xu, Rui; Tang, Xiao-li; Ding, Zhi; Li, Ji-man; Zhou, Xiang

    2017-01-01

    Background Splenosis refers to the heterotopic transplantation of splenic tissue following splenic trauma or splenectomy. Splenosis is typically asymptomatic and is often identified incidentally. Case presentation We report a case of splenosis with colon and stomach invasion presenting as lower gastrointestinal bleeding and mimicking colonic gastrointestinal stromal tumour (GIST). The importance of suspicion for splenosis in patients with a history of splenic injury should be highlighted. Com...

  13. Role of PET/CT in congenital histiocytosis

    Energy Technology Data Exchange (ETDEWEB)

    Udayasankar, Unni K. [Emory University School of Medicine, Department of Radiology, Atlanta, GA (United States); Alazraki, Adina L.; Simoneaux, Stephen F. [Emory University School of Medicine, Department of Radiology, Atlanta, GA (United States); Children' s Healthcare of Atlanta at Egleston, Department of Radiology, Atlanta, GA (United States)

    2010-12-15

    Congenital Langerhans cell histiocytosis (LCH) is a rare, but often severe, form of LCH. Although a more benign single-system congenital LCH has been described, most cases present as multisystem disease with poorer prognosis and are often treated with systemic chemotherapy. Imaging plays a central role in diagnosis, initial staging and assessment of treatment response. PET/CT is increasingly utilized for pediatric LCH. We report a unique case with PET/CT used as an imaging tool in staging and evaluating treatment response in congenital multisystem LCH. (orig.)

  14. Congenital Abdominal Wall Defects

    DEFF Research Database (Denmark)

    Risby, Kirsten; Jakobsen, Marianne Skytte; Qvist, Niels

    2016-01-01

    related complications; and post-discharge gastrointestinal surgery. RESULTS: GDM was placed in 34 (gastroschisis=27, omphalocele=7) patients during the study period. Complete closure of the fascia was obtained in one patient with omphalocele and in 22 patients with gastroschisis. Mesh related surgical...

  15. Immunotherapy for gastrointestinal malignancies.

    Science.gov (United States)

    Toomey, Paul G; Vohra, Nasreen A; Ghansah, Tomar; Sarnaik, Amod A; Pilon-Thomas, Shari A

    2013-01-01

    Gastrointestinal (GI) cancers are the most common human tumors encountered worldwide. The majority of GI cancers are unresectable at the time of diagnosis, and in the subset of patients undergoing resection, few are cured. There is only a modest improvement in survival with the addition of modalities such as chemotherapy and radiation therapy. Due to an increasing global cancer burden, it is imperative to integrate alternative strategies to improve outcomes. It is well known that cancers possess diverse strategies to evade immune detection and destruction. This has led to the incorporation of various immunotherapeutic strategies, which enable reprogramming of the immune system to allow effective recognition and killing of GI tumors. A review was conducted of the results of published clinical trials employing immunotherapy for esophageal, gastroesophageal, gastric, hepatocellular, pancreatic, and colorectal cancers. Monoclonal antibody therapy has come to the forefront in the past decade for the treatment of colorectal cancer. Immunotherapeutic successes in solid cancers such as melanoma and prostate cancer have led to the active investigation of immunotherapy for GI malignancies, with some promising results. To date, monoclonal antibody therapy is the only immunotherapy approved by the US Food and Drug Administration for GI cancers. Initial trials validating new immunotherapeutic approaches, including vaccination-based and adoptive cell therapy strategies, for GI malignancies have demonstrated safety and the induction of antitumor immune responses. Therefore, immunotherapy is at the forefront of neoadjuvant as well as adjuvant therapies for the treatment and eradication of GI malignancies.

  16. Luminally expressed gastrointestinal biomarkers.

    Science.gov (United States)

    Cummins, Gerard; Yung, Diana E; Cox, Ben F; Koulaouzidis, Anastasios; Desmulliez, Marc P Y; Cochran, Sandy

    2017-12-01

    A biomarker is a measurable indicator of normal biologic processes, pathogenic processes or pharmacological responses. The identification of a useful biomarker is challenging, with several hurdles to overcome before clinical adoption. This review gives a general overview of a range of biomarkers associated with inflammatory bowel disease or colorectal cancer along the gastrointestinal tract. Areas covered: These markers include those that are already clinically accepted, such as inflammatory markers such as faecal calprotectin, S100A12 (Calgranulin C), Fatty Acid Binding Proteins (FABP), malignancy markers such as Faecal Occult Blood, Mucins, Stool DNA, Faecal microRNA (miRNA), other markers such as Faecal Elastase, Faecal alpha-1-antitrypsin, Alpha2-macroglobulin and possible future markers such as microbiota, volatile organic compounds and pH. Expert commentary: There are currently a few biomarkers that have been sufficiently validated for routine clinical use at present such as FC. However, many of these biomarkers continue to be limited in sensitivity and specificity for various GI diseases. Emerging biomarkers have the potential to improve diagnosis and monitoring but further study is required to determine efficacy and validate clinical utility.

  17. Gastrointestinal manifestations of leukemia.

    Science.gov (United States)

    Ebert, Ellen C; Hagspiel, Klaus D

    2012-03-01

    Gastrointestinal (GI) manifestations of leukemia occur in up to 25% of patients at autopsy, generally during relapse. Its presence varies with the type of leukemia and has been decreasing over time due to improved chemotherapy. Gross leukemic lesions are most common in the stomach, ileum, and proximal colon. Leukemia in the esophagus and stomach includes hemorrhagic lesions from petechiae to ulcers, leukemic infiltrates, pseudomembranous esophagitis, and fungal esophagitis. Lesions in the small and large bowel are usually hemorrhagic or infiltrative. Infiltration of lymphoreticular organs, mainly spleen, liver, and lymph nodes, is more prominent in chronic than acute leukemia. Neutropenic enterocolitis, a necrotizing process involving the cecum, ascending colon, and terminal ileum, is increasing in incidence due to greater intensity of chemotherapy. Distension of bowel leads to mucosal breaches, permitting entry of organisms that grow profusely in the absence of neutrophils. Ischemic necrosis follows, leading to perforation and/or peritonitis. Patients present with fever, abdominal pain, diarrhea, nausea, vomiting, abdominal distension and tenderness. Ultrasound and computed tomography scans show thickening of the bowel wall. Treatment is supportive with surgery for necrosis and perforation. The main GI causes of death in leukemia are hemorrhage, infection, and necrotizing enterocolitis. © 2011 Journal of Gastroenterology and Hepatology Foundation and Blackwell Publishing Asia Pty Ltd.

  18. Congenital long QT syndrome

    Directory of Open Access Journals (Sweden)

    Celano Giuseppe

    2008-07-01

    Full Text Available Abstract Congenital long QT syndrome (LQTS is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. Disease prevalence is estimated at close to 1 in 2,500 live births. The two cardinal manifestations of LQTS are syncopal episodes, that may lead to cardiac arrest and sudden cardiac death, and electrocardiographic abnormalities, including prolongation of the QT interval and T wave abnormalities. The genetic basis of the disease was identified in the mid-nineties and all the LQTS genes identified so far encode cardiac ion channel subunits or proteins involved in modulating ionic currents. Mutations in these genes (KCNQ1, KCNH2, KCNE1, KCNE2, CACNA1c, CAV3, SCN5A, SCN4B cause the disease by prolonging the duration of the action potential. The most prevalent LQTS variant (LQT1 is caused by mutations in the KCNQ1 gene, with approximately half of the genotyped patients carrying KCNQ1 mutations. Given the characteristic features of LQTS, the typical cases present no diagnostic difficulties for physicians aware of the disease. However, borderline cases are more complex and require the evaluation of various electrocardiographic, clinical, and familial findings, as proposed in specific diagnostic criteria. Additionally, molecular screening is now part of the diagnostic process. Treatment should always begin with β-blockers, unless there are valid contraindications. If the patient has one more syncope despite a full dose β-blockade, left cardiac sympathetic denervation (LCSD should be performed without hesitation and implantable cardioverter defibrillator (ICD therapy should be considered with the final decision being based on the individual patient characteristics (age, sex, clinical history, genetic subgroup including mutation-specific features in some cases, presence of ECG signs – including 24-hour Holter recordings – indicating high electrical instability

  19. Congenital syphilis surveillance

    Directory of Open Access Journals (Sweden)

    Antonella Marangoni

    2011-06-01

    Full Text Available Congenital syphilis (CS is mainly a consequence of the lack of antenatal care and control of sexually transmitted infections.The bedrock of the prevention of CS is syphilis diagnosis by serological screening during pregnancy.Current Italian guidelines suggest that all the pregnant women should be tested in the first trimester. Due to the frequently absence of specific signs of infection at birth, laboratory tests are often the only method for a correct CS diagnosis. The aim of this study was to evaluate the usefulness of Treponema pallidum IgM Western Blot (WB and Polymerase Chain Reaction (PCR on cerebrospinal fluid (CSF as an aid in the diagnosis of CS during a prospective surveillance study carried out at St. Orsola Hospital in Bologna, Italy, from November 2000 through June 2010. All pregnant women during pregnancy and at delivery were screened for syphilis by ARCHITECT® Syphilis TP, Abbott. Positive samples were further analysed by Treponema Pallidum Hemagglutination Test (TPHA and Rapid Plasma Reagin (RPR tests, Radim.An in-house Western Blot (WB was also performed. Infants born to syphilis seropositive mothers were enrolled in a prospective follow up. At birth, tests were performed (including IgM WB. Infants with positive RPR tests at birth born to mothers not adequately treated received also a long bone radiograph as well as a complete CSF analysis, including Veneral Disease Research Laboratori (VDRL (Siemens Healthcare Diagnostics and PCR testing. All seroreactive infants received careful follow up examinations and serological testing at 0, 3, 6, 9, 12 months or until the tests became negative. In this study, positive syphilis serology was noted in 151 pregnant women delivering in our hospital. Fifteen women had never been adequately treated, and 9 out 15 gave birth to infected newborns.All these 9 infants had positive IgM WB results on serum samples. Two babies had characteristic long bone lesions at X-ray examination and 3 were born

  20. Three cases with unusual ophthalmic phenotypes of congenital aniridia.

    Science.gov (United States)

    Lee, Na Young; Lee, Yong Eun; Mok, Jeewon; Kim, Myungshin; Park, Shin Hae

    2013-08-01

    To report 3 cases with unusual ophthalmic phenotypes of congenital aniridia. Interventional case series. A 10-day-old infant with cloudy and large cornea in both eyes, 1 month-old male with bilateral corneal opacity, and 27-year-old male with low vision. Complete ophthalmic examination and genetic evaluation. Case 1 was a neonate with concurrent presentation of congenital aniridia and glaucoma. Case 2 was diagnosed as congenital aniridia combined with Peters anomaly in both eyes. Case 3 had 2 unusual features of aniridia, which were asymmetric iris involvement and absence of limbal deficiency. It is important to perform thorough ophthalmologic evaluations in patients with congenital aniridia because of the possibilities of coexistence of other ocular abnormalities. Copyright © 2013. Published by Elsevier Inc.

  1. Gastrointestinal perfusion in septic shock.

    NARCIS (Netherlands)

    Haren, E.M. van; Sleight, J.W.; Pickkers, P.; Hoeven, J.G. van der

    2007-01-01

    Septic shock is characterised by vasodilation, myocardial depression and impaired microcirculatory blood flow, resulting in redistribution of regional blood flow. Animal and human studies have shown that gastrointestinal mucosal blood flow is impaired in septic shock. This is consistent with

  2. Surgical treatment of congenital biliary duct cyst

    Directory of Open Access Journals (Sweden)

    Wang De-chun

    2012-03-01

    Full Text Available Abstract Background It is acknowledged that total cyst excision is a safe and ideal surgical treatment for congenital biliary duct cyst, compared to simple internal drainage. The aim of this study was to determine the optimal operation occasion and the effect of laparoscopy on congenital biliary duct cyst based upon total cyst excision. Methods From January 2002 to January 2011, 217 patients were admitted to Southwest Hospital for congenital biliary duct cyst. To determine the optimal surgery occasion, we divided these subjects into three groups, the infant group (age ≤ 3 years, the immaturity group (3 18 years, and then evaluated the feasibility, risk and long-term outcome after surgery in the three groups. To analyze the effect of laparoscopic technique on congenital biliary duct cyst, we divided the patients into the laparoscopy and the open surgery groups. Results Among the three groups, the morbidity from cholangiolithiasis before surgical treatment had obvious discrepancy (p 0.05. Similarly, no significant discrepancy was observed in the morbidity from postoperative complications or long-term postoperative complications (p > 0.05 between the laparoscopic and the open surgery groups. Conclusions We conclude that total cyst excision should be performed as early as possible. The optimal treatment occasion is the infant period, and laparoscopic resection may be a new safe and feasible minimally invasive surgery for this disease.

  3. [Functional and motor gastrointestinal disorders].

    Science.gov (United States)

    Mearin, Fermín; Rey, Enrique; Balboa, Agustín

    2015-09-01

    This article discusses the most interesting studies on functional and motor gastrointestinal disorders presented at Digestive Diseases Week (DDW), 2015. Researchers are still seeking biomarkers for irritable bowel syndrome and have presented new data. One study confirmed that the use of low-dose antidepressants has an antinociceptive effect without altering the psychological features of patients with functional dyspepsia. A contribution that could have immediate application is the use of transcutaneous electroacupuncture, which has demonstrated effectiveness in controlling nausea in patients with gastroparesis. New data have come to light on the importance of diet in irritable bowel syndrome, although the effectiveness of a low-FODMAP diet seems to be losing momentum with time. Multiple data were presented on the long-term efficacy of rifaximin therapy in patients with irritable bowel syndrome and diarrhoea. In addition, among other contributions, and more as a curiosity, a study evaluated the effect of histamine in the diet of patients with irritable bowel syndrome. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

  4. A randomized controlled pilot study to evaluate the effect of an enteral formulation designed to improve gastrointestinal tolerance in the critically ill patient-the SPIRIT trial.

    Science.gov (United States)

    Jakob, Stephan M; Bütikofer, Lukas; Berger, David; Coslovsky, Michael; Takala, Jukka

    2017-06-10

    Diarrhea is frequent in patients in intensive care units (ICU) and is associated with discomfort and complications and may increase the length of stay and nursing workload. This was a prospective, double-blind, randomized, controlled single-center pilot study to assess the incidence and frequency of diarrhea and the respective effects of a modified enteral diet (intervention: Peptamen® AF, rich in proteins, medium chain triglycerides and fish oil) compared to a standard diet (control: Isosource® Energy) in 90 randomized adult patients (intervention, n = 46; control, n = 44) with an ICU stay ≥5 days and tube feeding ≥3 days. Tube feeding was initiated within 72 h of ICU admission and continued up to 10 days. The caloric goal was adjusted to needs by indirect calorimetry. Gastrointestinal function, nutritional intake, and nursing workload were recorded. Follow-up was until 28 days after randomization. Median age was 63.3 (interquartile range (IQR) 51.0-73.2) years and Simplified Acute Physiology Score (SAPS) II was 61.0 (IQR 47.8-74). Time to reach caloric goal (intervention: 2.2 (0.8-3.7) days (median, IQR); control: 2.0 (1.3-2.7) days; p = 0.16), length of time on study nutrition (intervention: 5.0 (3.6-6.4) days; control: 7.0 (5.3-8.7) days; p = 0.26), and calorie intake (intervention: 18.0 (12.5-20.9) kcal/kg/day; control 19.7 (17.3-23.1) kcal/kg/day; p = 0.08) did not differ between groups, with a higher protein intake for Peptamen® group (1.13 (0.78-1.31) g/kg/day vs 0.80 (0.70-0.94); p Nursing workload and cost for diarrhea care were not different between the groups. In a post-hoc analysis, adjusted for treatment group, age, sex, and SAPS II score, diarrhea was associated with length of mechanical ventilation (9.5 (6.0-13.1) vs. 3.9 (3.2-4.6) days; p = 0.006) and length of ICU stay (11.0 (8.9-13.1) vs. 5.0 (3.8-6.2) days; p = 0.001). In this pilot study, we found a high incidence of diarrhea, which was not attenuated

  5. Congenital intestinal lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Popović Dušan Đ.

    2011-01-01

    Full Text Available Background. Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. Case report. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and suportive therapy. Conclusion. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

  6. Congenital diaphramatic hernia

    Energy Technology Data Exchange (ETDEWEB)

    Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States)

    2012-01-15

    Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

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

    Science.gov (United States)

    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).

  8. Antioxidant supplements for preventing gastrointestinal cancers

    DEFF Research Database (Denmark)

    Bjelakovic, Goran; Nikolova, Dimitrinka; Simonetti, Rosa G

    2008-01-01

    Oxidative stress may cause gastrointestinal cancers. The evidence on whether antioxidant supplements are effective in preventing gastrointestinal cancers is contradictory.......Oxidative stress may cause gastrointestinal cancers. The evidence on whether antioxidant supplements are effective in preventing gastrointestinal cancers is contradictory....

  9. Other congenital abnormalities.

    Science.gov (United States)

    Cobbett, J R

    1974-06-29

    The plastic surgeon is not a miracle worker, as so many of his patients believe. Nevertheless, he can do much to minimize the functional and cosmetic effect of many congenital deformities. If a moral can be drawn from this article it must be that the plastic surgeon should be given an early opportunity to see and assess the patients described here, if only to ease the anxiety in the minds of their parents by appropriate reassurance and discussion.

  10. Congenital syphilis: literature review

    OpenAIRE

    Eduardo Chaida Sonda; Felipe Farias Richter; Graziela Boschetti; Marcela Pase Casasola; Candice Franke Krumel; Cristiane Pimentel Hernandes Machado

    2013-01-01

    Syphilis is an infectious disease caused by Treponema pallidum and has high rates of vertical transmission, which can reach 100% depending on the maternal disease and stage of pregnancy. The diagnosis of gestational syphilis is simple and its screening is required during the prenatal period. However, this disease still has a high prevalence, affecting two million pregnant women worldwide. The procedures performed in newborns with congenital syphilis represent costs that are three-fold higher ...

  11. Dynamic Fusional Vergence Eye Movements in Congenital Esotropia

    OpenAIRE

    Morad, Yair; Lee, Horace; Westall, Carol; Kraft, Stephen P; Panton, Carole; Sapir-Pichhadze, Ruth; Eizenman, Moshe

    2008-01-01

    Purpose: To evaluate whether a selected group of 9 children with history of congenital esotropia is capable of producing vergence eye responses to fusional disparity stimuli. Methods: Nine children with history of congenital esotropia and 5 age-matched children with normal binocular vision were examined. Using a full-field target, vergence responses to base out 3 prism diopters placed in front of both eyes were recorded. Results: In five patients, the initial response was a saccade generated ...

  12. Congenital polycythemia in Chuvashia.

    Science.gov (United States)

    Sergeyeva, A; Gordeuk, V R; Tokarev, Y N; Sokol, L; Prchal, J F; Prchal, J T

    1997-03-15

    Familial and congenital polycythemia, not due to high oxygen affinity hemoglobin or reduced 2,3-diphosphoglycerate in erythrocytes, is common in the Chuvash population of the Russian Federation. Hundreds of individuals appear to be affected in an autosomal recessive pattern. We studied six polycythemic Chuvash patients <20 years of age from unrelated families and 12 first-degree family members. Hemoglobins were markedly elevated in the index subjects (mean +/- standard deviation [SD] of 22.6 +/- 1.4 g/dL), while platelet and white blood cell counts were normal. Although performed in only three of the index subjects, serum erythropoietin concentrations determined by both radioimmune and functional assays were significantly higher in polycythemic patients compared with first-degree family members with normal hemoglobin concentrations. Southern blot analysis of the Bgl 2 erythropoietin gene polymorphism showed that one polycythemic subject was a heterozygote, suggesting the absence of linkage of polycythemia with the erythropoietin gene, assuming autosomal recessive inheritance. Polymerase chain reaction (PCR) amplification of the GGAA and GA minisatellite polymorphic regions of the erythropoietin receptor gene showed no evidence of linkage of phenotype with this gene. We conclude that Chuvash polycythemia may represent a secondary form of familial and congenital polycythemia of as yet unknown etiology. This condition is the only endemic form of familial and congenital polycythemia described.

  13. [Functional gastrointestinal disorders].

    Science.gov (United States)

    Moser, Gabriele

    2006-08-01

    The functional gastrointestinal disorders (FGID) are the most frequent clinical conditions seen in practice. The FGID are associated with significant work absenteeism, impaired quality of life and increased medical costs. Most patients also suffer from psychosocial problems. Therefore it is important to define the patient's complaints in terms of a biopsychosocial disorder rather than just a medical illness. Physicians must acknowledge the relevance of the psychosocial aspects to prepare the patient for a referral to a specialist (in psychosomatic medicine or a psychotherapist) and to get the patient interested in the psychological factors involved as well as further explore their cause. Most of the research on psychotherapy in FGID to date has focused on the irritable bowel syndrome, and different methods of treatments have been studied (e. g., cognitive-behavioral therapy, dynamic psychotherapy, hypnotherapy, and relaxation). Randomised controlled studies have shown that psychotherapy is superior to conventional medical therapy. Hypnotherapy seems to be very successful. Predictors of a positive response to psychological treatment generally are: (1) awareness that stress exacerbates their bowel symptoms, (2) mild anxiety or depression, (3) the predominant bowel symptom is abdominal pain or diarrhea and not constipation, (4) the abdominal pain waxes and wanes in response to eating, defecation, or stress rather than being constant pain, and (5) the symptoms are of relatively short duration. Psychotherapy is initially relatively expensive because it requires multiple, long sessions. However, its benefits persist or even increase over time, and in the long run, there may be a reduction in clinic visits and health care costs which offsets the initial cost of psychological treatment.

  14. Probiotics and gastrointestinal health.

    Science.gov (United States)

    Gorbach, S L

    2000-01-01

    Evidence for positive health benefits of Lactobacilli applies to only a few strains used for commercial applications. It is generally agreed that a probiotic must be capable of colonizing the intestinal tract to influence human health; this requirement disqualifies many of the strains currently used in fermented dairy products. Lactobacillus GG, a variant of L. casei sps rhamnosus, has been studied extensively in adults and children. When consumed as a dairy product or as a lyophilized powder, LGG colonizes the gastrointestinal tract for 1-3 days in most individuals and up to 7 days in about 30% of subjects. Traveler's diarrhea, antibiotic-associated diarrhea, and relapsing Clostridium difficile colitis are improved with LGG. In infantile diarrhea, the severity and duration of the attack is reduced. LGG-fermented milk lessens the intestinal permeability defects caused by exposure to cows milk or rotavirus infection. LGG has proven beneficial effects on intestinal immunity. It increases the numbers of IgA and other immunoglobulin-secreting cells in the intestinal mucosa. LGG stimulates local release of interferon. It facilitates antigen transport to underlying lymphoid cells, which serves to increase antigen uptake in Peyer's patches. LGG also acts as an immunoadjuvant for oral vaccines. In an animal model of colon cancer, LGG reduced the incidence of chemically induced tumors in the large bowel of rodents. Extensive safety testing has shown no pathogenic potential in humans or animals. Probiotic cultures of Lactobacilli have the potential to bring substantial health benefits to the consumer. The purported benefits for any probiotic must pass the highest standards of scientific scrutiny before the claims can be accepted.

  15. Gastrointestinal Physiology and Function.

    Science.gov (United States)

    Greenwood-Van Meerveld, Beverley; Johnson, Anthony C; Grundy, David

    2017-01-01

    The gastrointestinal (GI) system is responsible for the digestion and absorption of ingested food and liquids. Due to the complexity of the GI tract and the substantial volume of material that could be covered under the scope of GI physiology, this chapter briefly reviews the overall function of the GI tract, and discusses the major factors affecting GI physiology and function, including the intestinal microbiota, chronic stress, inflammation, and aging with a focus on the neural regulation of the GI tract and an emphasis on basic brain-gut interactions that serve to modulate the GI tract. GI diseases refer to diseases of the esophagus, stomach, small intestine, colon, and rectum. The major symptoms of common GI disorders include recurrent abdominal pain and bloating, heartburn, indigestion/dyspepsia, nausea and vomiting, diarrhea, and constipation. GI disorders rank among the most prevalent disorders, with the most common including esophageal and swallowing disorders, gastric and peptic ulcer disease, gastroparesis or delayed gastric emptying, irritable bowel syndrome (IBS), and inflammatory bowel disease (IBD). Many GI disorders are difficult to diagnose and their symptoms are not effectively managed. Thus, basic research is required to drive the development of novel therapeutics which are urgently needed. One approach is to enhance our understanding of gut physiology and pathophysiology especially as it relates to gut-brain communications since they have clinical relevance to a number of GI complaints and represent a therapeutic target for the treatment of conditions including inflammatory diseases of the GI tract such as IBD and functional gut disorders such as IBS.

  16. Congenital syphilis, still a reality

    OpenAIRE

    Rajat Gupta; Vora, Rita V.

    2013-01-01

    Congenital syphilis is a potentially serious pathology affecting newborns of infected mothers. Even one case of congenital syphilis is a sentinel public health event, since timely diagnosis and treatment of syphilis infected pregnant woman should prevent transmission almost entirely. Here, we are reporting a case of early symptomatic congenital syphilis presented with severe desquamating papulosquamous lesions over multiple body parts along with erosive lesions around oral cavity and nostrils.

  17. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    Science.gov (United States)

    ... Health Conditions Fukuyama congenital muscular dystrophy Fukuyama congenital muscular dystrophy Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the ...

  18. Genetics Home Reference: congenital dyserythropoietic anemia

    Science.gov (United States)

    ... blood cells. This disorder is one of many types of anemia , which is a condition characterized by a shortage ... link) PubMed OMIM (3 links) ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE ...

  19. Genetics Home Reference: congenital diaphragmatic hernia

    Science.gov (United States)

    ... Home Health Conditions Congenital diaphragmatic hernia Congenital diaphragmatic hernia Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, ...

  20. Early detection of congenital syphilis

    Directory of Open Access Journals (Sweden)

    Nagalakshmi Chowdhary

    2014-01-01

    Full Text Available Late congenital syphilis is a very rare clinical entity, and its early diagnosis and treatment is essential. Dental findings often provide valuable evidence for the diagnosis of late congenital syphilis. It occurs due to the transmission of the disease from an infected mother to her fetus through placenta. This long forgotten disease continues to effect pregnant women resulting in perinatal morbidity and mortality. Congenital syphilis is a preventable disease, and its presence reflects a failure of prenatal care delivery system, as well as syphilis control programs. We are reporting a case of late congenital syphilis with only Hutchinson′s teeth.

  1. Early detection of congenital syphilis.

    Science.gov (United States)

    Chowdhary, Nagalakshmi; Rani, Bs Kavya; Mukunda, K S; Kiran, N K

    2014-01-01

    Late congenital syphilis is a very rare clinical entity, and its early diagnosis and treatment is essential. Dental findings often provide valuable evidence for the diagnosis of late congenital syphilis. It occurs due to the transmission of the disease from an infected mother to her fetus through placenta. This long forgotten disease continues to effect pregnant women resulting in perinatal morbidity and mortality. Congenital syphilis is a preventable disease, and its presence reflects a failure of prenatal care delivery system, as well as syphilis control programs. We are reporting a case of late congenital syphilis with only Hutchinson's teeth.

  2. Congenital toxoplasmosis and prenatal care state programs.

    Science.gov (United States)

    Avelino, Mariza M; Amaral, Waldemar N; Rodrigues, Isolina M X; Rassi, Alan R; Gomes, Maria B F; Costa, Tatiane L; Castro, Ana M

    2014-01-18

    Control programs have been executed in an attempt to reduce vertical transmission and the severity of congenital infection in regions with a high incidence of toxoplasmosis in pregnant women. We aimed to evaluate whether treatment of pregnant women with spiramycin associated with a lack of monitoring for toxoplasmosis seroconversion affects the prognosis of patients. We performed a prospective cohort study with 246 newborns (NB) at risk for congenital toxoplasmosis in Goiânia (Brazil) between October 2003 and October 2011. We analyzed the efficacy of maternal treatment with spiramycin. A total of 40.7% (66/162) of the neonates were born seriously infected. Vertical transmission associated with reactivation during pregnancy occurred in 5.5% (9/162) of the NB, with one showing severe infection (systemic). The presence of specific immunoglobulins (fetal IgM and NB IgA) suggested the worst prognosis. Treatment of pregnant women by spiramycin resulted in reduced vertical transmission. When infected pregnant women did not undergo proper treatment, the risk of severe infection (neural-optical) in NB was significantly increased. Fetal IgM was associated with ocular impairment in 48.0% (12/25) of the fetuses and neonatal IgA-specific was related to the neuro-ophthalmologic and systemic forms of the disease. When acute toxoplasmosis was identified in the postpartum period, a lack of monitoring of seronegative pregnant women resulted in a higher risk of severe congenital infection. Treatment of pregnant women with spiramycin reduces the possibility of transmission of infection to the fetus. However, a lack of proper treatment is associated with the onset of the neural-optical form of congenital infection. Primary preventive measures should be increased for all pregnant women during the prenatal period and secondary prophylaxis through surveillance of seroconversion in seronegative pregnant woman should be introduced to reduce the severity of congenital infection in the

  3. Congenital toxoplasmosis and prenatal care state programs

    Science.gov (United States)

    2014-01-01

    Background Control programs have been executed in an attempt to reduce vertical transmission and the severity of congenital infection in regions with a high incidence of toxoplasmosis in pregnant women. We aimed to evaluate whether treatment of pregnant women with spiramycin associated with a lack of monitoring for toxoplasmosis seroconversion affects the prognosis of patients. Methods We performed a prospective cohort study with 246 newborns (NB) at risk for congenital toxoplasmosis in Goiânia (Brazil) between October 2003 and October 2011. We analyzed the efficacy of maternal treatment with spiramycin. Results A total of 40.7% (66/162) of the neonates were born seriously infected. Vertical transmission associated with reactivation during pregnancy occurred in 5.5% (9/162) of the NB, with one showing severe infection (systemic). The presence of specific immunoglobulins (fetal IgM and NB IgA) suggested the worst prognosis. Treatment of pregnant women by spiramycin resulted in reduced vertical transmission. When infected pregnant women did not undergo proper treatment, the risk of severe infection (neural-optical) in NB was significantly increased. Fetal IgM was associated with ocular impairment in 48.0% (12/25) of the fetuses and neonatal IgA-specific was related to the neuro-ophthalmologic and systemic forms of the disease. When acute toxoplasmosis was identified in the postpartum period, a lack of monitoring of seronegative pregnant women resulted in a higher risk of severe congenital infection. Conclusion Treatment of pregnant women with spiramycin reduces the possibility of transmission of infection to the fetus. However, a lack of proper treatment is associated with the onset of the neural-optical form of congenital infection. Primary preventive measures should be increased for all pregnant women during the prenatal period and secondary prophylaxis through surveillance of seroconversion in seronegative pregnant woman should be introduced to reduce the

  4. Efficacy of ivermectin against gastrointestinal nematodes of cattle in Denmark evaluated by different methods for analysis of faecal egg count reduction

    DEFF Research Database (Denmark)

    Pena-Espinoza, Miguel Angel; Thamsborg, Stig M.; Denwood, Matthew J.

    2016-01-01

    were cultured to isolate L3 for detection of Ostertagia ostertagi and Cooperia oncophora by qPCR. Treatment efficacies were analysed using the recommended WAAVP method and two open-source statistical procedures based on Bayesian modelling: ‘eggCounts’ and ‘Bayescount’. A simulation study evaluated...

  5. Transcatheter Arterial Embolization for Gastrointestinal Bleeding Secondary to Gastrointestinal Lymphoma

    Energy Technology Data Exchange (ETDEWEB)

    Zheng, Lin [Henan Cancer Hospital, The Affiliated Cancer Hospital of Zhengzhou University, Department of Radiology (China); Shin, Ji Hoon, E-mail: jhshin@amc.seoul.kr; Han, Kichang; Tsauo, Jiaywei; Yoon, Hyun-Ki; Ko, Gi-Young [University of Ulsan, College of Medicine, Asan Medical Center, Department of Radiology and Research Institute of Radiology (Korea, Republic of); Shin, Jong-Soo [Kyunghee University, College of Medicine, Kangdong Kyunghee University Hospital, Department of Radiology (Korea, Republic of); Sung, Kyu-Bo [University of Ulsan, College of Medicine, Asan Medical Center, Department of Radiology and Research Institute of Radiology (Korea, Republic of)

    2016-11-15

    PurposeTo evaluate the effectiveness of transcatheter arterial embolization (TAE) for gastrointestinal (GI) bleeding caused by GI lymphoma.Materials and MethodsThe medical records of 11 patients who underwent TAE for GI bleeding caused by GI lymphoma between 2001 and 2015 were reviewed retrospectively.ResultsA total of 20 TAE procedures were performed. On angiography, contrast extravasation, and both contrast extravasation and tumor staining were seen in 95 % (19/20) and 5 % (1/20) of the procedures, respectively. The most frequently embolized arteries were jejunal (n = 13) and ileal (n = 5) branches. Technical and clinical success rates were 100 % (20/20) and 27 % (3/11), respectively. The causes of clinical failure in eight patients were rebleeding at new sites. In four patients who underwent repeat angiography, the bleeding focus was new each time. Three patients underwent small bowel resection due to rebleeding after one (n = 2) or four (n = 1) times of TAEs. Another two patients underwent small bowel resection due to small bowel ischemia/perforation after three or four times of TAEs. The 30-day mortality rate was 18 % due to hypovolemic shock (n = 1) and multiorgan failure (n = 1).ConclusionAngiogram with TAE shows limited therapeutic efficacy to manage GI lymphoma-related bleeding due to high rebleeding at new sites. Although TAE can be an initial hemostatic measure, surgery should be considered for rebleeding due to possible bowel ischemic complication after repeated TAE procedures.

  6. Evaluation of the gastrointestinal stromal tumors (G.I.S.T.) therapy response by MRI diffusion and apparent diffusion coefficient (ADC): comparison to the PET-CT with {sup 18}F-F.D.G; Evaluation de la reponse therapeutique des GIST par IRM de diffusion et CDA: comparaison a la TEP-TDM au {sup 18}F-FDG

    Energy Technology Data Exchange (ETDEWEB)

    Dunet, V.; Prior, J. [CHU Vaudois, Departement de medecine nucleaire, Lausanne (Switzerland); Koehli, M.; Meuli, R.; Schmidt, S. [CHU Vaudois, Departement de radiologie, Lausanne (Switzerland); Montemurro, M.; Leyvraz, S. [CHU Vaudois, Departement d' oncologie, Lausanne (Switzerland)

    2010-07-01

    Purpose: Determine the clinical potential of diffusion MRI with mapping of apparent diffusion coefficient for evaluating the therapeutic response of gastrointestinal stromal tumors (G.I.S.T.) in comparison to PET-CT with {sup 18}F-F.D.G.. Conclusions: The variations of apparent diffusion coefficient seems to reflect the therapeutic response of G.I.S.T. lesions avid for {sup 18}F-F.D.G.. Nevertheless, its interest seems limited in the case of small lesions and remains to be determined for the assessment of G.I.S.T. lesions that do not hold {sup 18}F- F.D.G.. (N.C.)

  7. First 25 years of the Hungarian congenital abnormality registry.

    Science.gov (United States)

    Czeizel, A E

    1997-05-01

    The Hungarian Congenital Abnormality Registry was established in 1962 based on obligatory notification of cases with congenital abnormalities by physicians. However, continuous and expert evaluation of data started in 1970 when the Registry was moved to the National Institute of Public Health. Later several other systems, including the Nationwide Evaluation of Multimalformed Infants, Case-Control Surveillance of Congenital Abnormalities, and Surveillance of Germinal Mutations, were based on the Registry. Data and results of the first 25 years of the Registry are evaluated from three different aspects: 1) evaluation of the originally planned and later adopted missions of the Registry; 2) quality control of the Registry is based on the proportion of misdiagnoses, completeness of notifications, and pathogenetically oriented classification; 3) outcome evaluation indicated the different quality of recorded data in lethal, severe, and mild congenital abnormalities. The data base of the Registry was appropriate to estimate the proportion of preventable congenital abnormalities due to the four different preventive programs and to evaluate the pregnancy outcomes after the Chernobyl nuclear power plant accident.

  8. High frequency of congenital thrombophilia in women with pathological pregnancies?

    DEFF Research Database (Denmark)

    Rasmussen, Ase; Ravn, Pernille

    2004-01-01

    congenital thrombophilia and preeclampsia, IUGR, placental abruption and fetal loss. In addition, the few published clinical trials of prophylactic antithrombotic treatment to prevent severe obstetrical complications in thrombophilic women are discussed. The studies have shown variable results evaluated......The obstetrical complications preeclampsia, intrauterine growth restriction (IUGR), placental abruption and fetal loss are major causes of maternal and fetal morbidity and mortality. Much recent research has focused on to what extent congenital thrombophilia contributes to these obstetrical...... mainly as a result of the limited number of case reports published. However, the strongest association was found to be between congenital thrombophilia and preeclampsia and late fetal loss. Early fetal loss was not found to be associated with congenital thrombophilia. At present, the question remains...

  9. Splenosis with lower gastrointestinal bleeding mimicking colonical gastrointestinal stromal tumour.

    Science.gov (United States)

    Xiao, Shuo-Meng; Xu, Rui; Tang, Xiao-Li; Ding, Zhi; Li, Ji-Man; Zhou, Xiang

    2017-04-11

    Splenosis refers to the heterotopic transplantation of splenic tissue following splenic trauma or splenectomy. Splenosis is typically asymptomatic and is often identified incidentally. We report a case of splenosis with colon and stomach invasion presenting as lower gastrointestinal bleeding and mimicking colonic gastrointestinal stromal tumour (GIST). The importance of suspicion for splenosis in patients with a history of splenic injury should be highlighted. Computed tomography (CT)-guided biopsy, nuclear scintigraphy and ferumoxide-enhanced magnetic resonance imaging (MRI) can support an accurate diagnosis. An accurate diagnosis of splenosis is important to avoid unnecessary operations, especially in patients with previous histories of splenic trauma or splenectomy.

  10. Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: a prospective cohort study.

    Science.gov (United States)

    Wang, Yan; Cao, Li; Liang, Dong; Meng, Lulu; Wu, Yun; Qiao, Fengchang; Ji, Xiuqing; Luo, Chunyu; Zhang, Jingjing; Xu, Tianhui; Yu, Bin; Wang, Leilei; Wang, Ting; Pan, Qiong; Ma, Dingyuan; Hu, Ping; Xu, Zhengfeng

    2018-02-01

    Currently, chromosomal microarray analysis is considered the first-tier test in pediatric care and prenatal diagnosis. However, the diagnostic yield of chromosomal microarray analysis for prenatal diagnosis of congenital heart disease has not been evaluated based on a large cohort. Our aim was to evaluate the clinical utility of chromosomal microarray as the first-tier test for chromosomal abnormalities in fetuses with congenital heart disease. In this prospective study, 602 prenatal cases of congenital heart disease were investigated using single nucleotide polymorphism array over a 5-year period. Overall, pathogenic chromosomal abnormalities were identified in 125 (20.8%) of 602 prenatal cases of congenital heart disease, with 52.0% of them being numerical chromosomal abnormalities. The detection rates of likely pathogenic copy number variations and variants of uncertain significance were 1.3% and 6.0%, respectively. The detection rate of pathogenic chromosomal abnormalities in congenital heart disease plus additional structural anomalies (48.9% vs 14.3%, P heart disease group. Additionally, the detection rate in congenital heart disease with additional structural anomalies group was significantly higher than that in congenital heart disease with soft markers group (48.9% vs 19.8%, P heart disease with additional structural anomalies and congenital heart disease with intrauterine growth retardation groups (48.9% vs 50.0%), congenital heart disease with soft markers and congenital heart disease with intrauterine growth retardation groups (19.8% vs 50.0%), or congenital heart disease with soft markers and isolated congenital heart disease groups (19.8% vs 14.3%). The detection rate in fetuses with congenital heart disease plus mild ventriculomegaly was significantly higher than in those with other types of soft markers (50.0% vs 15.6%, P heart disease in clinical practice. Copyright © 2017 Elsevier Inc. All rights reserved.

  11. Congenital heart disease and chromossomopathies detected by the karyotype.

    Science.gov (United States)

    Trevisan, Patrícia; Rosa, Rafael Fabiano M; Koshiyama, Dayane Bohn; Zen, Tatiana Diehl; Paskulin, Giorgio Adriano; Zen, Paulo Ricardo G

    2014-06-01

    To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype. Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on. Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted in Latin America, in Brazil. It is known that chromosomal abnormalities are frequent, being present in about one in every ten patients with congenital heart disease. Among the karyotype alterations in these patients, the most important is the trisomy 21 (Down syndrome). These patients often have associated extra-cardiac malformations, with a higher risk of morbidity and mortality, which makes heart surgery even more risky. Despite all the progress made in recent decades in the field of cytogenetic, the karyotype remains an essential tool in order to evaluate patients with congenital heart disease. The detailed dysmorphological physical examination is of great importance to indicate the need of a karyotype.

  12. Congenital heart disease and chromossomopathies detected by the karyotype

    Directory of Open Access Journals (Sweden)

    Patrícia Trevisan

    2014-06-01

    Full Text Available OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype.DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on.DATA SYNTHESIS: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted in Latin America, in Brazil. It is known that chromosomal abnormalities are frequent, being present in about one in every ten patients with congenital heart disease. Among the karyotype alterations in these patients, the most important is the trisomy 21 (Down syndrome. These patients often have associated extra-cardiac malformations, with a higher risk of morbidity and mortality, which makes heart surgery even more risky.CONCLUSIONS: Despite all the progress made in recent decades in the field of cytogenetic, the karyotype remains an essential tool in order to evaluate patients with congenital heart disease. The detailed dysmorphological physical examination is of great importance to indicate the need of a karyotype.

  13. Prevalence of Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Akhavan Karbasi Sedighah

    2009-05-01

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

  14. Audiological evaluation and self-assessed hearing problems in subjects with single-sided congenital external ear malformations and associated conductive hearing loss.

    Science.gov (United States)

    Priwin, Claudia; Jönsson, Radi; Magnusson, Lennart; Hultcrantz, Malou; Granström, Gösta

    2007-04-01

    Previously, unilateral hearing impairment (UHI) has been considered of little consequence. However, a recent meta-analysis of children with UHI displayed educational and behavioural problems and possible delays of speech and language development. Further, patients with UHI consequently report hearing difficulties. Our study investigated hearing function, possible inner ear protection, and self-assessed hearing problems in 57 subjects aged between 3-80 years with single-sided congenital ear malformations and conductive UHI. Pure-tone thresholds and speech recognition (quiet, noise) were measured, and all patients completed a self-assessment questionnaire. Pure-tone thresholds corresponding to sensorineural function did not significantly differ between the normal (air conduction) and affected ear (bone conduction). However, speech recognition in both quiet and in noise was normal on the non-affected side but significantly worse on the malformed side. A moderate to high degree of self-assessed hearing problems were reported. In conclusion, hearing function in the affected ear was found to be subnormal in terms of supra threshold signal processing. Furthermore, a high degree of hearing difficulty was reported. Therefore, active treatment, surgery, or hearing amplification, might be considered.

  15. Microgastria: congenital microgastria

    Directory of Open Access Journals (Sweden)

    Nilton Crepaldi Vicente

    Full Text Available The authors report a case of an one-year-old girl with growth retardation, vomiting, aspiration pneumonias and malnutrition presenting gastroesopheal reflux and microgastria. The child was underwent a double lumen Roux-en-Y jejunal reservoir (Hunt-Lawrence pouch. This treatment improved nutritional status and growth. No others anomalies were detected. Congenital microgastria is a rare anomaly which is usually associated with other malformations. The authors reviewed the literature and recommend the gastric augmentation for the treatment for microgastria.

  16. Nonclassic Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Selma Feldman Witchel

    2010-01-01

    Full Text Available Nonclassic congenital adrenal hyperplasia (NCAH due to P450c21 (21-hydroxylase deficiency is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and “on-time” puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH.

  17. Current Concepts - Congenital Scoliosis

    Science.gov (United States)

    Tikoo, Agnivesh; Kothari, Manish K.; Shah, Kunal; Nene, Abhay

    2017-01-01

    Background: Congenital scoliosis is one of the ‘difficult to treat’ scenarios which a spine surgeon has to face. Multiple factors including the age of child at presentation, no definite pattern of deformity and associated anomalies hinder the execution of the ideal treatment plan. All patients of congenital scoliosis need to be investigated in detail. X rays and MRI of spine is usually ordered first. Screening investigations to rule out VACTERL (Visceral, Anorectal, Cardiac, Tracheo-esophageal fistula, Renal and Lung) abnormalities are required. They are cardiac echocardiography and ultrasonography of abdomen and pelvis. CT scan is required to understand the complex deformity and is helpful in surgical planning. Methods: A comprehensive medical literature review was done to understand the current surgical and non surgical treatment options available. An attempt was made to specifically study limitations and advantages of each procedure. Results: The treatment of congenital scoliosis differs with respect to the age of presentation. In adults with curves more than 50 degrees or spinal imbalance the preferred treatment is osteotomy and correction. In children the goals are different and treatment strategy has to be varied according to the age of patient. A single or two level hemivertebra can easily be treated with hemivertebra excision and short segment fusion. However, more than 3 levels or multiple fused ribs and chest wall abnormalities require a guided growth procedure to prevent thoracic insufficiency syndrome. The goal of management in childhood is to allow guided spine growth till the child reaches 10 - 12 years of age, when a definitive fusion can be done. The current research needs to be directed more at the prevention and understanding the etiology of the disease. Till that time, diagnosing the disease early and treating it before the sequels set in, is of paramount importance. Conclusion: The primary aim of treatment of congenital scoliosis is to allow

  18. Congenital erythropoietic porphyria

    Directory of Open Access Journals (Sweden)

    Wen-Hao Lee

    2012-06-01

    Full Text Available Congenital erythropoietic porphyria (CEP, or “Günther disease”, is a rare variant of porphyria. It is an autosomal recessive disease caused by deficient uroporphyrinogen III synthase (URO-III-synthase, the fourth enzyme in the heme biosynthetic pathway. We herein report a case of a man with the typical clinical presentations of hyper- and hypo-pigmentation and blister formation over sun-exposed areas, mutilation of the fingers, dark-purple urine, and erythrodontia with pinkish fluorescence under a Wood’s lamp. The diagnosis was confirmed by decreased activity of URO-III-synthase in red blood cells (RBC and a porphyrin profile compatible with CEP.

  19. Congenital imprinting disorders

    DEFF Research Database (Denmark)

    Eggermann, Thomas; Netchine, Irène; Temple, I Karen

    2015-01-01

    Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised...... their common underlying (epi)genetic aetiologies, and their basic pathogenesis and long-term clinical consequences remain largely unknown. Efforts to elucidate the aetiology of IDs are currently fragmented across Europe, and standardisation of diagnostic and clinical management is lacking. The new consortium...

  20. Surgery for Congenital Cataract

    Directory of Open Access Journals (Sweden)

    David Yorston FRCS FRCOphth

    2004-01-01

    Full Text Available The management of congenital cataract is very different to the treatment of a routine age-related cataract. In adults, surgery may be delayed for years without affecting the visual outcome. In infants, if the cataract is not removed during the first year of life, the vision will never be fully regained after surgery. In adults, if the aphakia is not corrected immediately, it can be corrected later. In young children, if the aphakia is not corrected, the vision will never develop normally.

  1. Congenital giant melanocytic nevi

    Directory of Open Access Journals (Sweden)

    Shahla Khan

    2009-07-01

    Full Text Available Nevi are common skin tumors caused by abnormal overgrowth of cells from the epidermal and dermal layers of the skin. Most nevi are benign, but some pre-cancerous nevi must be monitored or removed. The giant congenital nevus is greater than 10 cm in size, pigmented and often hairy. Between 4% and 6% of these lesions will develop into a malignant melanoma. Since approximately 50% of the melanoma develop by the age of two, and 80% by the age of seven, early removal is recommended. The objective of this paper is to present a unique case of giant nevi and their surgical management.

  2. Congenital indifference to pain

    Directory of Open Access Journals (Sweden)

    Kapasi A

    1992-01-01

    Full Text Available A 9-month old female infant developed a non-healing deep necrotic ulcer on the tongue in apposition with the central incisors. There was no response to painful stimuli. Investigations revealed normal blood biochemistry, sweat, histamine and capsaicin tests. Nerve conduction studies and light microscopy of sural nerve and skin were normal. The child was diagnosed as a case of congenital indifference to pain and was treated with teeth extraction and plastic repair of the tongue. In next 2 years the child had recurrent ulcers of the tongue leading to fibrosis and shortening of tongue hampering the speech.

  3. Systemic congenital lymphangiomatosis

    Directory of Open Access Journals (Sweden)

    Ligia Maria Suppo de Souza

    Full Text Available Systemic lymphangiomatosis is a rare disease characterized by the exageration of lymphatic channel proliferation, occurring in children and young adults. We describe an extremely rare case of congenital systemic lymphangiomatosis in a newborn who had ascitis and respiratory failure develop immediately after delivery. Death occurred during the first hour of life. Autopsy findings showed numerous cysts in soft tissues of the cervical area, mediastinum and diaphragm, and several other organs including the liver, spleen, thyroid and kidneys. The severe and diffuse involvement with cysts in both lungs by lymphangiomatosis was associated with poor prognosis and death in our case.

  4. EAMJ Congenital Sep 09.indd

    African Journals Online (AJOL)

    2009-09-09

    Sep 9, 2009 ... Stocker, J.T., Madewell, J.E. and Drake, R.M.. Congenital cystic adenomatoid malformation of the lung: classification and morphologic spectrum. Hum. Pathol. 1977; 8:155-171. 6. Benjamin, D.R. and Cahill, J.L. Bronchioloalveolar carcinoma of the lung and congenital cystic adenomatoid malformation.

  5. Congenital Heart Defects (For Parents)

    Science.gov (United States)

    ... and related health problems. Common Heart Defects Common types of congenital heart defects, which can affect any part of the heart ... circulation. Echocardiograms are the primary tool for diagnosing congenital ... is a specialized type of ultrasound that allows diagnosis of heart problems ...

  6. Congenital Syphilis Masquerading as Leukemia.

    Science.gov (United States)

    Lee, Tiffany; Bell, Stephanie; Scimeme, Jason; Maraqa, Nizar

    2017-07-01

    As of late, the incidence of congenital syphilis in the United States is increasing. Each new case represents a failure of preventing, diagnosing, and treating syphilis in pregnant women. Pediatricians should confirm that all women have received adequate screening for and management of syphilis during pregnancy. Congenital syphilis is easily treatable but may be a diagnostic challenge with high morbidity and mortality.

  7. congenital epulis in a newborn

    African Journals Online (AJOL)

    GB

    BACKGROUND: Congenital epulis is a rare lesion of the newborn, presenting as mass in the oral cavity which can interfere with respiration and feeding. It should be distinguished from other lesions which can occur in newborns, both clinically and histopathologically. CASE DETAILS: Here, we report a case of congenital ...

  8. Congenital nystagmus and negative electroretinography

    Directory of Open Access Journals (Sweden)

    Roussi M

    2011-04-01

    Full Text Available Mirella Roussi, Hélène Dalens, Jean Jacques Marcellier, Franck BacinDepartment of Ophthalmology, Clermont-Ferrand University, Clermont-Ferrand, FranceAbstract: 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.Keywords: Congenital nystagmus, negative electroretinography, congenital night stationary blindness

  9. Extra - Intestinal Gastrointestinal Stromal Tumor of Omentum

    Directory of Open Access Journals (Sweden)

    S Basnet

    2014-09-01

    Full Text Available Gastrointestinal stromal tumors are rare tumors, constituting less than 3% of all gastrointestinal malignant neoplasms but are the most common mesenchymal tumors of the gastrointestinal tract. Approximately 10% of gastrointestinal stromal tumors are extraintestinal and mostly arise from the mesentery or omentum. Here we report a rare case of an extraintestinal gastrointestinal stromal tumor of mesentery. Morphological and immunohistochemical features led to a diagnosis of extra-gastrointestinal stromal tumor.DOI: http://dx.doi.org/10.3126/jpn.v4i8.11610 Journal of Pathology of Nepal; Vol.4,No. 8 (2014 682-684

  10. Color television in gastrointestinal endoscopy.

    Science.gov (United States)

    Nelson, R S

    1981-10-01

    Endoscopic color television is a practical method of recording gastrointestinal pathology and procedures. Nevertheless, a careful MEDLARS review of the medical literature failed to reveal a mention of this method during the past ten years. The endoscopic procedure can be recorded to illustrate many features not possible with still pictures. While particularly useful in teaching endoscopy, it is also useful for demonstrating pathologic findings to interested physicians, patients, and relatives. Television recording requires meticulous attention to details of lighting, focus, and cleansing of areas to be photographed and of the instrument objective, but results may well be superior to other means of photography in gastrointestinal endoscopy.

  11. Intelligence Quotient (IQ) in Congenital Strabismus.

    Science.gov (United States)

    Bagheri, Abbas; Fallahi, Mohammad Reza; Tamannaifard, Shima; Vajebmonfared, Sara; Zonozian, Saideh

    2013-04-01

    To evaluate intelligence quotient (IQ) in patients with congenital strabismus. All patients with congenital strabismus scheduled for surgery were enrolled consecutively over a one year period in a cross-sectional study and were evaluated for verbal, performance and total IQ scores, and compared to the mean normal IQ of 100±15. During the study period, 109 patients with mean age of 18.4±10.5 (range, 4-63) years were included. Educational status in most patients (80%) was less than high-school. Most patients (80%) lived in urban areas and 46 patients (42.2%) had some degrees of unilateral or bilateral amblyopia. Mean verbal IQ was 87.2±19.6 (range, 45-127), performance IQ was 81±15.5 (range, 44-111) and total IQ was 83.5±18.3 (range, 40-120). Total IQ was significantly lower in comparison to the normal population (PIQ levels. Verbal IQ was insignificantly higher in myopes than emmetropes and hyperopes. IQ was better with vertical deviations and was higher in esotropes than exotropes; however, these differences were not statistically significant (P>0.05 for all comparisons). Patients with congenital strabismus in this study had lower mean IQ scores than the normal population which may be due to genetic background or acquired causes secondary to strabismus.

  12. Aerobic Training in Patients with Congenital Myopathy

    DEFF Research Database (Denmark)

    Hedermann, Gitte; Vissing, Christoffer Rasmus; Jensen, Karen

    2016-01-01

    INTRODUCTION: Congenital myopathies (CM) often affect contractile proteins of the sarcomere, which could render patients susceptible to exercise-induced muscle damage. We investigated if exercise is safe and beneficial in patients with CM. METHODS: Patients exercised on a stationary bike for 30...... minutes, three times weekly, for 10 weeks at 70% of their maximal oxygen uptake (VO2max). Creatine kinase (CK) was monitored as a marker of muscle damage. VO2max, functional tests, and questionnaires evaluated efficacy. RESULTS: Sixteen patients with CM were included in a controlled study. VO2max...... high, 4.9 (SE 1.9), and tended to decrease (to 4.4 (SE 1.7); p = 0.08) with training. Nine patients dropped out of the training program. Fatigue was the major single reason. CONCLUSIONS: Ten weeks of endurance training is safe and improves fitness in patients with congenital myopathies. The training...

  13. Congenital Rickets: Report of Four Cases

    Directory of Open Access Journals (Sweden)

    Rahim Vakili

    2014-01-01

    Full Text Available Introduction: Vitamin D deficiency and rickets continue to be health problems in developing countries and most of the infants with congenital rickets may present with hypocalcemic seizure.   Case Report In this article, the report on four infants who presented with hypocalcemic seizures but subsequently were found to have congenital rickets is presented. All of them had hypocalcaemia and low level of serum 25- hydroxy vitamin D. Their mothers had not received vitamin D supplementation during pregnancy and so evidence of vitamin D deficiency was presented.   Conclusion: Although current vitamin D supplementation guidelines for infants was effective in prevention of rickets in Iranian children,  it is necessary to evaluate women before pregnancy  to prevent this entity. Also infants without vitamin D supplementation therapy who present with seizures during the first 6 months of age should undergo biochemical and other investigations for rickets.

  14. THE CONGENITAL MOTOR DISABILITY EXPERIENCED AS COMMONSENSE

    Directory of Open Access Journals (Sweden)

    Jolita Viluckienė

    2016-09-01

    Full Text Available The article applies Alfred Schutz’s phenomenologically grounded sociological perspective to explore how persons with a congenital motor disability or having a disability ever since their childhood construct and maintain their significant social reality through subjective meanings and how they interpret their disabled bodies. Their personal narratives are based on qualitative in-depth interviews and suggest that these persons face the disability only during secondary socialization, after internalization of social typifications of disabled body of negative meaning, the overcoming of which and successful socialization requires the involvement into new social group or community, i.e., into a positive social structure, confirming their identity. This article performs cognitive function and contributes to the social workers‘ understanding and knowledge building in order to get a re-evaluating the social needs of people with congenital physical disability.

  15. Microphthalmia, corneal dermoids, and congenital anomalies resembling Goldenhar syndrome in a cat.

    Science.gov (United States)

    Berkowski, William; Langohr, Ingeborg; Pease, Anthony; Bartoe, Joshua

    2018-02-01

    CASE DESCRIPTION An 18-month-old spayed female domestic shorthair cat was evaluated because of conjunctivitis and skin-fold dermatitis secondary to bilateral microphthalmia, corneal dermoids, and ankyloblepharon. CLINICAL FINDINGS Physical examination revealed bilateral microphthalmia, bilaterally symmetrical corneal dermoids, ankyloblepharon, superior and inferior entropion, prognathism, and facial asymmetry with deviation of the nasal septum. Computed tomography revealed malformed, thickened bony orbits with mineralization of the orbital ligament bilaterally. Moderate rightward deviation of the nasal septum and ventral nasal meatus was also evident, with no identifiable maxillary sinuses. Results of MRI of the brain were unremarkable. Abdominal ultrasonography showed an irregularly marginated left kidney and a right kidney defect suggestive of chronic renal infarction. An abnormal, well-demarcated, focally thickened region of the muscularis externa of the jejunum was also evident. TREATMENT AND OUTCOME Transpalpebral enucleation was performed bilaterally. Histologic examination of ocular tissues confirmed the corneal dermoids and microphthalmia with anterior and posterior segment dysgenesis and cataracts in both eyes. Ocular discomfort resolved after postoperative recovery, and follow-up revealed that the patient's activity level and quality of life were excellent. No clinical signs of upper respiratory, urinary, or gastrointestinal tract disease were observed during the approximately 3.5-year follow-up period. CLINICAL RELEVANCE The congenital abnormalities observed resembled those described for human patients with Goldenhar syndrome, and the outcome of treatment was favorable. This report may prompt clinicians to consider this diagnosis when evaluating young cats with similar clinical signs.

  16. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni

    2014-06-01

    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  17. Congenital Abdominal Wall Defects

    DEFF Research Database (Denmark)

    Risby, Kirsten; Jakobsen, Marianne Skytte; Qvist, Niels

    2016-01-01

    related complications; and post-discharge gastrointestinal surgery. RESULTS: GDM was placed in 34 (gastroschisis=27, omphalocele=7) patients during the study period. Complete closure of the fascia was obtained in one patient with omphalocele and in 22 patients with gastroschisis. Mesh related surgical...... complications were seen in five (15%) children: four had detachment of the mesh and one patient developed abdominal compartment syndrome. Mesh related clinical infection was observed in five children. In hospital mortality occurred in four cases (2 gastroschisis and 2 omphalocele) and was not procedure...

  18. Preliminary experience with porcine intestinal submucosa (CorMatrix) for valve reconstruction in congenital heart disease: histologic evaluation of explanted valves.

    Science.gov (United States)

    Zaidi, Abbas Haider; Nathan, Meena; Emani, Sitaram; Baird, Christopher; del Nido, Pedro J; Gauvreau, Kimberlee; Harris, Marian; Sanders, Stephen P; Padera, Robert F

    2014-11-01

    We compared the histologic findings in explanted CorMatrix (9 patients) and autologous pericardium (9 patients) used for valvuloplasty of the aortic (7 patients) and/or mitral (11 patients) valve in patients with congenital heart defects. We used standard tissue stains and immunohistochemistry to identify the inflammatory cell type. CorMatrix was associated with an intense inflammatory response in the surrounding native tissue, extending into CorMatrix in 8 of 9 cases, continuing to the longest follow-up point (9 months). The typical response included macrophages and giant cells in contact with the material, surrounded by lymphocytes, macrophages, plasma cells, and eosinophils. The thickness of the residual CorMatrix material was 280 to 300 μm, similar to the nominal thickness at implantation and unrelated to the implantation duration. Only at the longest follow-up interval was any significant resorption of CorMatrix material evident. A neointima had formed on the surface of CorMatrix, increasing in thickness with the period in situ. Mild cellular infiltration of CorMatrix was noted in all cases; however, in no case, did it appear that CorMatrix was being remodeled into tissue resembling a 3-layered native valve. In contrast, a near absence of any inflammatory reaction was seen and no eosinophilia associated with autologous pericardium was present, irrespective of the duration in situ. Furthermore, we observed more tissue infiltration, remodeling, vascularization, and neointima formation with autologous pericardium. Although CorMatrix used for valve repair induced an intense inflammatory response, little or no remodeling to form tissue resembling a 3-layered native valve was seen at ≤9 months after implantation. Copyright © 2014 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.

  19. Fetal cardiac axis and congenital heart defects in early gestation.

    Science.gov (United States)

    Sinkovskaya, Elena S; Chaoui, Rabih; Karl, Katrin; Andreeva, Elena; Zhuchenko, Ludmila; Abuhamad, Alfred Z

    2015-02-01

    To investigate the association between cardiac axis and fetal congenital heart defects to demonstrate the potential clinical applicability of cardiac axis measurement for detection of congenital heart defect in early gestation. This case-control study was undertaken in three tertiary centers with expertise in fetal imaging in early gestation. Fetal cardiac axis was evaluated between 11 0/7 and 14 6/7 weeks of gestation in 197 fetuses with confirmed congenital heart defects. A control group was selected by matching each fetus with a congenital heart defect with two fetuses in the control group with similar crown-rump length (± 5 mm) and date of study (± 2 months). Cardiac axis was measured on the four-chamber view as the angle between the line that traces the long axis of the heart and the line that bisects the thorax in an anteroposterior direction. In the control group, mean cardiac axis was 44.5 ± 7.4°. The cardiac axis did not significantly change in early pregnancy. In the congenital heart defect group, 25.9% of fetuses had cardiac axis measurements within normal limits. In 74.1%, the cardiac axis was abnormal including 110 fetuses in the case group with left deviation (cardiac axis > 97.5th percentile), 19 fetuses in the case group with right deviation (cardiac axis axis. The performance of cardiac axis measurement in detection of major congenital heart defect was significantly better than enlarged nuchal translucency, tricuspid regurgitation, or reversed A-wave in ductus venosus used alone or in combination. Abnormal cardiac axis is present in two-thirds of fetuses with congenital heart defect in early gestation. Adding cardiac axis assessment to the nuchal translucency measurement is helpful in defining a population at risk for fetal congenital heart defect.

  20. Approach to upper gastrointestinal bleeding

    African Journals Online (AJOL)

    ese clinical factors, age over 60, and shock on admission are highly predictive.[7] Concurrent medical therapy is particularly important as NSAIDs and anticoagulants, which are commonly prescribed in the elderly, have a direct deleterious effect on coagulation. e. Table 1. Causes of upper gastrointestinal bleeding-related ...

  1. GASTROINTESTINAL INJURIES FROM BLUNT ABDOMINAL ...

    African Journals Online (AJOL)

    hi-tech

    2004-04-04

    Apr 4, 2004 ... ileus, urinary tract infection and chest infection, respectively postoperatively. Mortality was 28%, all of who had associated intraabdominal or extraabdominal injuries. Conclusion: Gastrointestinal injury from blunt abdominal trauma in children, though uncommon, carries a high mortality, usually from ...

  2. [Motility and functional gastrointestinal disorders].

    Science.gov (United States)

    Mearin, Fermín; Rey, Enrique; Balboa, Agustín

    2014-09-01

    This article discusses the studies on functional and motor gastrointestinal disorders presented at the 2014 Digestive Diseases Week conference that are of greatest interest to us. New data have been provided on the clinical importance of functional gastrointestinal disorders, with recent prevalence data for irritable bowel syndrome and fecal incontinence. We know more about the pathophysiological mechanisms of the various functional disorders, especially irritable bowel syndrome, which has had the largest number of studies. Thus, we have gained new data on microinflammation, genetics, microbiota, psychological aspects, etc. Symptoms such as abdominal distension have gained interest in the scientific community, both in terms of patients with irritable bowel syndrome and those with constipation. From the diagnostic point of view, the search continues for a biomarker for functional gastrointestinal disorders, especially for irritable bowel syndrome. In the therapeutic area, the importance of diet for these patients (FODMAP, fructans, etc.) is once again confirmed, and data is provided that backs the efficacy of already marketed drugs such as linaclotide, which rule out the use of other drugs such as mesalazine for patients with irritable bowel syndrome. This year, new forms of drug administration have been presented, including metoclopramide nasal sprays and granisetron transdermal patches for patients with gastroparesis. Lastly, a curiosity that caught our attention was the use of a vibrating capsule to stimulate gastrointestinal transit in patients with constipation. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  3. GASTROINTESTINAL FOOD ALLERGY IN CHILDREN

    Directory of Open Access Journals (Sweden)

    Svetlana G. Makarova

    2017-01-01

    Full Text Available In recent years, there has been a significant increase in the prevalence  of food allergies. Pathological conditions associated  with a food intolerance are becoming an increasingly urgent problem of pediatrics. According to different researchers, allergic lesions of the gastrointestinal tract occurs in 25–50% of patients with such common pathology as an allergy to cow's milk proteins. The severity of diseases  associated  with food allergies and their prognosis  depend largely on early diagnosis and adequate treatment. Difficulties and errors  in the diagnosis  of gastrointestinal  food allergies  are associated  with both subjective  and objective  reasons,  primarily due to the fact that gastrointestinal  reactions to food are often delayed and non-IgE-mediated. The article describes clinical forms of gastrointestinal food allergy according to the existing classification. Diagnostic algorithms and modern approaches  to differential diagnosis of disease based on evidence-based  medicine and corresponding to international consensus papers are given.

  4. Diagnosis of Chronic Gastrointestinal Ischemia

    NARCIS (Netherlands)

    D. van Noord (Désirée)

    2011-01-01

    textabstractThree aortic branches provide the arterial blood supply to the gastrointestinal tract: the celiac artery (CA), superior mesenteric artery (SMA) and inferior mesenteric artery (IMA). The CA supplies stomach, liver, part of the pancreas and proximal part of the duodenum. The SMA supplies

  5. GASTROINTESTINAL INJURIES FROM BLUNT ABDOMINAL ...

    African Journals Online (AJOL)

    hi-tech

    2004-04-04

    Apr 4, 2004 ... E. A. Ameh, MBBS, FWACS, Senior Lecturer and Consultant Paediatric Surgeon and P. T. Nmadu, MBBS, FMCS (Nig), FWACS, Professor of Paediatric .... injuries were treated accordingly. Table 1. Age and Sex of 21 children with gastrointestinal injuries from blunt abdominal trauma. Age (years). Sex.

  6. GASTROINTESTINAL TRACT OF CLARIAS GARIEPINUS ...

    African Journals Online (AJOL)

    DR. AMINU

    one hundred and ninety nine (199) were infested fish samples from gills and gastrointestinal tract .... in female sex organ. Examination and Identification of Piscine. Parasites. Specimens were categorized as Juveniles, sub adults and adults according to Ugwuzor .... size of the fish is important in determining the parasite.

  7. The Gastrointestinal Aspects of Halitosis

    Directory of Open Access Journals (Sweden)

    Sivan Kinberg

    2010-01-01

    Full Text Available BACKGROUND: Halitosis is a common human condition for which the exact pathophysiological mechanism is unclear. It has been attributed mainly to oral pathologies. Halitosis resulting from gastrointestinal disorders is considered to be extremely rare. However, halitosis has often been reported among the symptoms related to Helicobacter pylori infection and gastroesophageal reflux disease.

  8. Nutritional management of gastrointestinal malignancies ...

    African Journals Online (AJOL)

    The nutritional management of a patient with gastrointestinal cancer fi rst begins with an appropriate nutritional assessment, seeing that several factors could affect the patient's nutritional status. The most signifi cant dietary advice for cancer patients in general, is to consume a signifi cant amount of energy daily to maintain ...

  9. Effects of ageing on gastrointestinal motor function

    National Research Council Canada - National Science Library

    Madsen, Jan L; Graff, Jesper

    2004-01-01

    Existing data on the effect of ageing on gastrointestinal motility are few. In this study, we assessed the propulsive effect of all main segments of the gastrointestinal tract in a group of healthy older people...

  10. Compliance with Adult Congenital Heart Disease Guidelines: Are We Following the Recommendations?

    Science.gov (United States)

    Gerardin, Jennifer F; Menk, Jeremiah S; Pyles, Lee A; Martin, Cindy M; Lohr, Jamie L

    2016-05-01

    As the adult congenital heart disease population increases, poor transition from pediatric to adult care can lead to suboptimal quality of care and an increase in individual and institutional costs. In 2008, the American College of Cardiology and American Heart Association updated the adult congenital heart disease practice guidelines and in 2011, the American Heart Association recommended transition guidelines to standardize and encourage appropriate timing of transition to adult cardiac services. The objective of this study was to evaluate if patient age or complexity of congenital heart disease influences pediatric cardiologists' decision to transfer care to adult providers and to evaluate the compliance of different types of cardiology providers with current adult congenital heart disease treatment guidelines. A single-center retrospective review of 991 adult congenital heart disease patients identified by ICD-9 code from 2010 to 2012. Academic and community outpatient cardiology clinics. Nine hundred ninety-one patients who are 18 years and older with congenital heart disease. None. The compliance with health maintenance and transfer of care recommendations in the outpatient setting. For patients seen by pediatric cardiologists, only 20% had transfer of care discussions documented, most often in younger simple patients. Significant differences in compliance with preventative health guidelines were found between cardiology provider types. Even though a significant number of adults with congenital heart disease are lost to appropriate follow-up in their third and fourth decades of life, pediatric cardiologists discussed transfer of care with moderate and complex congenital heart disease patients less frequently. Appropriate transfer of adults with congenital heart disease to an adult congenital cardiologist provides an opportunity to reinforce the importance of regular follow-up in adulthood and may improve outcomes as adult congenital cardiologists followed the

  11. [Congenital syphilis: a case report].

    Science.gov (United States)

    Lasfargue, M; Thümmler, S; Perelman, S; de Ricaud, D

    2009-10-01

    Syphilis is a re-emerging infectious disease in Western Europe. Congenital syphilis is a potentially serious pathology affecting newborns of infected mothers. This disease is easily curable by a simple antibiotic treatment. Because of systematic antenatal screening it should no longer exist in industrialized countries. Nevertheless, we report a case of a six-week-old infant with a delayed diagnosis of congenital syphilis. Physicians, especially gynaecologists, obstetricians and paediatricians, have to be vigilant in order to allow for early diagnosis and appropriate treatment of congenital syphilis.

  12. Congenital infiltrating lipomatosis of the face with ipsilateral hemimegalencephaly

    Energy Technology Data Exchange (ETDEWEB)

    Aydingoez, Uestuen; Karli-Oguz, Kader [Department of Radiology, Hacettepe University Medical Centre, Ankara (Turkey); Emir, Suna; Bueyuekpamukcu, Muenevver [Department of Paediatrics, Hacettepe University Medical Centre, Ankara (Turkey); Koese, Guelsen [Paediatric Clinic, SSK Ankara Training Hospital, Ankara (Turkey)

    2002-02-01

    An extremely rare case of congenital infiltrating lipomatosis of the face (CILF) associated with ipsilateral hemimegalencephaly is reported in a 3-month-old boy. MRI not only thoroughly evaluated the extent of the lesion, but also demonstrated the cerebral anomaly. MRI is indispensable in the evaluation of patients suspected of having CILF. (orig.)

  13. Gastrointestinal Symptoms in Patients with Diabetes Mellitus ...

    African Journals Online (AJOL)

    Background: Gastrointestinal symptoms are reportedly more common in patients with diabetes mellitus, and are attributed to autonomic dysfunction of the gastrointestinal tract. These symptoms are also frequent in individuals without diabetes mellitus. Objectives: To determine whether gastrointestinal symptoms are more ...

  14. Diagnostic indications for upper gastrointestinal endoscopy ...

    African Journals Online (AJOL)

    Background/Aim: Upper gastrointestinal (GI) endoscopy now assumes a prominent role in the diagnosis and therapy of upper GI diseases. Some indications for upper gastrointestinal endoscopy include dyspepsia, dysphagia, peptic ulcer disease (PUD) and upper gastrointestinal bleeding. This study aimed to review the ...

  15. Congenital hypothyroidism: Screening dilemma.

    Science.gov (United States)

    Desai, Meena P

    2012-12-01

    Primary sporadic congenital hypothyroidism (CH) is the most common cause of hypothyroidism infancy early childhood in iodine sufficient region. Screening for neonatal CH began in 1970s. The rationale and reason for neonatal screening for CH (NSCH) are well established. It is mandatory in most developed countries along with the screen for metabolic disorder. The possibility of measuring TSH and thyroid hormones in cord blood paved the way for newborn screening (NS) for CH. Worldwide it is estimated that 25% of the live born population of 130 million babies undergo NSCH. Klein et al., by 1972 had shown improved CNS prognosis in CH treated by age 3 months. NSCH has largely eradicated the severe irreversible neurodevelopmental damage and reversed the chances of growth failure in infancy and early childhood.

  16. Congenital hypothyroidism: Screening dilemma

    Directory of Open Access Journals (Sweden)

    Meena P Desai

    2012-01-01

    Full Text Available Primary sporadic congenital hypothyroidism (CH is the most common cause of hypothyroidism infancy early childhood in iodine sufficient region. Screening for neonatal CH began in 1970s. The rationale and reason for neonatal screening for CH (NSCH are well established. It is mandatory in most developed countries along with the screen for metabolic disorder. The possibility of measuring TSH and thyroid hormones in cord blood paved the way for newborn screening (NS for CH. Worldwide it is estimated that 25% of the live born population of 130 million babies undergo NSCH. Klein et al., by 1972 had shown improved CNS prognosis in CH treated by age 3 months. NSCH has largely eradicated the severe irreversible neurodevelopmental damage and reversed the chances of growth failure in infancy and early childhood.

  17. Congenital fibular deficiency.

    Science.gov (United States)

    Hamdy, Reggie C; Makhdom, Asim M; Saran, Neil; Birch, John

    2014-04-01

    Congenital fibular deficiency (CFD) is characterized by a wide spectrum of manifestations ranging from mild limb length inequality (LLI) to severe shortening, with foot and ankle deformities and associated anomalies. The etiology of CFD remains unclear. Treatment goals are to achieve normal weight bearing, a functional plantigrade foot, and equal limb length. The recent Birch classification system has been proposed to provide a treatment guide: the functionality of the foot, LLI, and associated anomalies should be taken into account for decision-making. Treatment options include orthosis or epiphysiodesis, Syme or Boyd amputation and prosthetic rehabilitation, limb lengthening procedures, and foot and ankle reconstruction. The outcome of amputation for severe forms of CFD has shown favorable results and fewer complications compared with those of limb lengthening. Nevertheless, advances in the limb lengthening techniques may change our approach to treating patients with CFD and might extend the indications for reconstructive procedures to the treatment of severe LLI and foot deformities.

  18. [Congenital cervical spondylolisthesis].

    Science.gov (United States)

    Raichel, Michael; Lumelsky, Dmitry; Tanzman, Michael; Shtern, Avinoam; Kaufman, Basil

    2003-12-01

    Cervical spondylolysis with spondylolisthesis is a complex abnormality involving the posterior elements of the cervical vertebra, and anterolisthesis of the same vertebra. Cervical spondylolysis is defined as a corticated cleft between the superior and inferior articular facets of the articular "pillar", the cervical equivalent of the pars intraarticularis in the lumbar spine. The typical radiological features of this condition are as follows: 1. Spondylolysis (a break in the "pillar" on one or both sides) 2. Spina bifida of dysplastic vertebra 3. Affection of posterior intervertebral joints (abnormal inclination of the superior and inferior articular facets of the affected bones may present) Recognition of this congenital disorder and its differentiation from traumatic injury is extremely important in patients who have a history of recent cervical trauma.

  19. Congenital sensorineural hearing loss

    Energy Technology Data Exchange (ETDEWEB)

    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.

  20. Natural history of presumed congenital Brown syndrome.

    Science.gov (United States)

    Kaban, T J; Smith, K; Orton, R B; Noel, L P; Clarke, W; Cadera, W

    1993-07-01

    To evaluate the stability of the ocular alignment in patients with presumed congenital Brown syndrome. A retrospective review of patients with Brown syndrome with an emphasis on nonsurgical cases. Follow-up of at least 1 year was required for inclusion in the study. Patients were selected for this study from the pediatric ophthalmology services at the Ivey Institute of Ophthalmology, London, Ontario, and the Children's Hospital of Eastern Ontario, Ottawa. A cohort of 71 patients with presumed congenital Brown syndrome. Two cases were bilateral. Eleven cases were excluded because of insufficient length of follow-up, leaving 60 patients with an average follow-up of 46 months. All patients were assessed and followed up by a pediatric ophthalmologist. Of 38 patients who had no hypotropia in primary position at presentation, only two (5%) patients experienced a worsening with the development of a small vertical strabismus during the follow-up period. Six (10%) of the entire group of 60 patients experienced a complete spontaneous resolution of the deficiency in elevation at 4, 6, 8, 10, 12, and 15 years of age. Among patients with congenital Brown syndrome, those who are orthotropic in the primary position tend to remain stable or improve over time without surgical intervention.

  1. Cervical incompetence associated with congenital uterine malformations.

    Science.gov (United States)

    Chifan, Maria; Tîrnovanu, Mihaela; Grigore, Mihaela; Zanoschi, C

    2012-01-01

    Cervical incompetence is basically a cervix that is too weak to stay closed during a pregnancy. It is generally categorized as premature opening of the cervix without labor or contractions. To estimate the incidence of incompetence of the uterine cervix at patients with congenital uterine malformations. Our study was a retrospective and prospective one between 2002 and 2009. We evaluate the length of the cervix by transvaginal ultrasonography during the second trimester of pregnancy. We had 316 cases with congenital uterine malformations. From these we found 49 (15.3%) women with incompetence of the cervix: 8 (2.5%) with unicornuate uterus, 11 (3.4%) with bicornuate uterus and 30 (9.5%) cases uterus with septum. For all these wad made cerclage when we found funneling of the cervix or the cervix was open less than 4 cm. The use of ultrasonography has been very helpful with the diagnosis, and is made when the cervical os (opening) is greater than 2.5 cm, or the length has shortened to less than 20 mm. All patients had preterm delivery. When we have cases with congenital uterine malformations we must think that incompetence of the cervix could be associated, so we must assess the status of the cervix for these patients by serial ultrasound examinations starting between 16 and 20 weeks of gestation. Our patients had preterm delivery caused not only the incompetent cervix, but the malformation of the uterus is implicated also.

  2. Congenital fiber type disproportion.

    Science.gov (United States)

    Kissiedu, Juliana; Prayson, Richard A

    2016-04-01

    Type I muscle fiber atrophy in childhood can be encountered in a variety of neuromuscular disorders. Congenital fiber type disproportion (CFTD) is one such condition which presents as a nonprogressive muscle weakness. The diagnosis is often made after excluding other differential diagnostic considerations. We present a 2-year-9-month-old full term boy who presented at 2 months with an inability to turn his head to the right. Over the next couple of years, he showed signs of muscle weakness, broad based gait and a positive Gower's sign. He had normal levels of creatine kinase and normal electromyography. A biopsy of the vastus lateralis showed a marked variation in muscle fiber type. The adenosine triphosphate (ATP)-ase stains highlighted a marked type I muscle atrophy with rare scattered atrophic type II muscle fibers. No abnormalities were observed on the nicotinamide adenine dinucleotide (NADH), succinate dehydrogenase (SDH) or cytochrome oxidase stained sections. Ragged red fibers were not present on the trichrome stain. Abnormalities of glycogen or lipid deposition were not observed on the periodic acid-Schiff or Oil-Red-O stains. Immunostaining for muscular dystrophy associated proteins showed normal staining. Ultrastructural examination showed a normal arrangement of myofilaments, and a normal number and morphology for mitochondria. A diagnosis of CFTD was made after excluding other causes of type I atrophy including congenital myopathy. The lack of specific clinical and genetic disorder associated with CFTD suggests that it is a spectrum of a disease process and represents a diagnosis of exclusion. Copyright © 2015 Elsevier Ltd. All rights reserved.

  3. Análise radiológica das alterações gastrintestinais após cirurgia de Fobi-Capella Radiological evaluation of postoperative gastrointestinal alterations in patients submitted to Fobi-Capella surgery

    Directory of Open Access Journals (Sweden)

    Marina Celli Francisco

    2007-08-01

    Full Text Available OBJETIVO: Estudar os achados radiológicos encontrados na seriografia digestiva alta no pós-operatório tardio de cirurgia de Fobi-Capella. MATERIAIS E MÉTODOS: Estudo radiológico de 41 pacientes realizado seis a nove meses após a cirurgia de Fobi-Capella. RESULTADOS: As alterações encontradas foram hérnia hiatal (17%, refluxo gastroesofágico (19,5% e deslizamento do anel (4,8%. Os achados menos freqüentes foram fístula enterocutânea (2,4%, estenose da anastomose gastrojejunal (2,4%, bezoar (2,4% e não-visualização do anel em decorrência da sua retirada por intolerância (2,4%. As alterações anatômicas da cirurgia foram claramente demonstradas. CONCLUSÃO: O estudo foi capaz de demonstrar as alterações anatômicas e as complicações da cirurgia de Fobi-Capella.OBJECTIVE: The present study was aimed at evaluating radiological findings of delayed postoperative upper gastrointestinal series in patients submitted to Fobi-Capella surgery. MATERIALS AND METHODS: Radiological studies of 41 patients, six to nine months following the surgery. RESULTS: The following pathological alterations have been found: hiatal hernia (17%, gastroesophageal reflux disease (19.5% and sliding of the silastic ring (4.8%. Least frequent findings have been the following: enterocutaneous fistula (2.4%, stenosis of the gastric pouch outlet (2.4%, bezoar (2.4%, and non-visualization of the silastic ring caused by its removal due to patient intolerance (2.4%. Anatomical alterations resulting from the surgery have been clearly demonstrated. CONCLUSION: The present study could demonstrate anatomical alterations and complications resulting from Fobi-Capella surgery.

  4. Open resections for congenital lung malformations

    Directory of Open Access Journals (Sweden)

    Mullassery Dhanya

    2008-01-01

    Full Text Available Aim: Pediatric lung resection is a relatively uncommon procedure that is usually performed for congenital lesions. In recent years, thoracoscopic resection has become increasingly popular, particularly for small peripheral lesions. The aim of this study was to review our experience with traditional open lung resection in order to evaluate the existing "gold standard." Materials and Methods: We carried out a retrospective analysis of all children having lung resection for congenital lesions at our institution between 1997 and 2004. Data were collected from analysis of case notes, operative records and clinical consultation. The mean follow-up was 37.95 months. The data were analyzed using SPSS. Results: Forty-one children (13 F/28 M underwent major lung resections during the study period. Their median age was 4.66 months (1 day-9 years. The resected lesions included 21 congenital cystic adenomatoid malformations, 14 congenital lobar emphysema, four sequestrations and one bronchogenic cyst. Fifty percent of the lesions were diagnosed antenatally. Twenty-six patients had a complete lobectomy while 15 patients had parenchymal sparing resection of the lesion alone. Mean postoperative stay was 5.7 days. There have been no complications in any of the patients. All patients are currently alive, asymptomatic and well. None of the patients have any significant chest deformity. Conclusions: We conclude that open lung resection enables parenchymal sparing surgery, is versatile, has few complications and produces very good long-term results. It remains the "gold standard" against which minimally invasive techniques may be judged.

  5. The BAHA Softband. A new treatment for young children with bilateral congenital aural atresia.

    NARCIS (Netherlands)

    Hol, M.K.S.; Cremers, C.W.R.J.; Coppens-Schellekens, W.; Snik, A.F.M.

    2005-01-01

    OBJECTIVE: To evaluate the validity of a bone-anchored hearing aid (BAHA) Softband (fitted unilaterally and bilaterally) in young children with bilateral congenital aural atresia. SUBJECTS: Two children with severe bilateral congenital conductive hearing loss, who had been fitted with a

  6. Management of Early Congenital Syphilis in a Newborn Case with Maculopapular Rash

    Directory of Open Access Journals (Sweden)

    Özgün Uygur

    2017-09-01

    Full Text Available Congenital syphilis is preventable with proper antenatal follow-up and treatment of the pregnant woman infected with Treponema pallidum, and the rapid evaluation and early treatment of the newborns. Here we report a newborn with early congenital syphilis presenting with maculopapular rash and positive treponemal test born to an inadequately treated syphilitic mother.

  7. Gastrointestinal Bleeding Scintigraphy in the Early 21st Century.

    Science.gov (United States)

    Grady, Erin

    2016-02-01

    Gastrointestinal bleeding scintigraphy performed with (99m)Tc-labeled autologous erythrocytes or historically with (99m)Tc-sulfur colloid has been a clinically useful tool since the 1970s. This article reviews the history of the techniques, the different methods of radiolabeling erythrocytes, the procedure, useful indications, diagnostic accuracy, the use of SPECT/CT and CT angiography to evaluate gastrointestinal bleeding, and Meckel diverticulum imaging. The causes of pediatric bleeding are discussed by age. © 2016 by the Society of Nuclear Medicine and Molecular Imaging, Inc.

  8. A systematic review and economic evaluation of new-generation computed tomography scanners for imaging in coronary artery disease and congenital heart disease: Somatom Definition Flash, Aquilion ONE, Brilliance iCT and Discovery CT750 HD.

    Science.gov (United States)

    Westwood, M; Al, M; Burgers, L; Redekop, K; Lhachimi, S; Armstrong, N; Raatz, H; Misso, K; Severens, J; Kleijnen, J

    2013-01-01

    Computed tomography (CT) is important in diagnosing and managing many conditions, including coronary artery disease (CAD) and congenital heart disease. Current CT scanners can very accurately diagnose CAD requiring revascularisation in most patients. However, imaging technologies have developed rapidly and new-generation computed tomography (NGCCT) scanners may benefit patients who are difficult to image (e.g. obese patients, patients with high or irregular heart beats and patients who have high levels of coronary calcium or a previous stent or bypass graft). To assess the clinical effectiveness and cost-effectiveness of NGCCT for diagnosing clinically significant CAD in patients who are difficult to image using 64-slice computed tomography and treatment planning in complex congenital heart disease. Bibliographic databases were searched from 2000 to February/March 2011, including MEDLINE, MEDLINE In-Process and Other Non-Indexed Citations, EMBASE, Cochrane Database of Systematic Reviews (CDSR), Cochrane Central Register of Controlled Trials (CENTRAL), Database of Abstracts of Reviews of Effects (DARE), NHS Economic Evaluation Database (NHS EED), Health Technology Assessment (HTA) database and Science Citation Index (SCI). Trial registers and conference proceedings were searched. Systematic review methods followed published guidance. Risk of bias was assessed using QUADAS-2. Results were stratified by patient group. Summary sensitivity and specificity were calculated using a bivariate summary receiver operating characteristic, or random effects model. Heterogeneity was assessed using the chi-squared statistic and I(2)-statistic. Cost-effectiveness of NGCCT was modelled separately for suspected and known CAD, evaluating invasive coronary angiography (ICA) only, ICA after positive NGCCT (NGCCT-ICA), and NGCCT only. The cost-effectiveness of NGCCT, compared with 64-slice CT, in reducing imaging-associated radiation in congenital heart disease was assessed. Twenty

  9. Nifedipine gastrointestinal therapeutic system versus atenolol in stable angina pectoris

    NARCIS (Netherlands)

    deVries, RJM; vandenHeuvel, AFM; Lok, DJA; Claessens, RJJ; Bernink, PJLM; Pasteuning, WH; Kingma, JH; Dunselman, PHJM

    1996-01-01

    The gastrointestinal therapeutic system formulation of nifedipine enables a once-daily dosing resulting in predictable, relatively constant plasma concentrations. To evaluate the efficacy and safety of this formulation and to compare this with the beta-blocker atenolol, we conducted a double-blind,

  10. The Impact of Opioid Treatment on Regional Gastrointestinal Transit

    DEFF Research Database (Denmark)

    Poulsen, Jakob Lykke; Nilsson, Matias; Brock, Christina

    2016-01-01

    BACKGROUND/AIMS: To employ an experimental model of opioid-induced bowel dysfunction in healthy human volunteers, and evaluate the impact ofopioid treatment compared to placebo on gastrointestinal (GI) symptoms and motility assessed by questionnaires and regional GItransit times using the 3...... during opioid treatment. Oxycodone increased median total GI transit time from 22.2 to 43.9 hours (P

  11. Plasma copeptin levels in the patients with gastrointestinal bleeding.

    Science.gov (United States)

    Salt, Ömer; Durukan, Polat; Ozkan, S; Saraymen, R; Sen, A; Yurci, M A

    2017-10-01

    Gastrointestinal bleeding is a significant cause of morbidity and mortality worldwide. In addition, it constitutes an important part of health expenditures. In this study, we aimed to determine whether there is a relationship between plasma copeptin levels and the etiology, location and severity of gastrointestinal bleeding. This study was performed prospectively in 104 consecutive patients who were admitted to an emergency department with complaints of bloody vomiting or bloody or black stool. To evaluate the level of biochemical parameters such as Full Blood Count (FBC), serum biochemistry, bleeding parameters and copeptin, blood samples were obtained at admission. For the copeptin levels, 2 more blood samples were obtained at the 12th and 24th hours after admission. The values obtained were compared using statistical methods. In terms of the etiology of bleeding, the copeptin levels in the patients with peptic ulcer were higher than the levels in patients with other gastrointestinal bleeding. However, the difference was not statistically significant. There were no significant differences among all groups' 0th, 12th and 24th hour levels of copeptin. We conclude that copeptin cannot be effectively used as a biochemical parameter in an emergency department to determine the etiology and location of gastrointestinal bleeding. It can, however, be used to make decisions on endoscopy and the hospitalization of patients with suspected gastrointestinal bleeding. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Antioxidant capacity of broccoli sprouts subjected to gastrointestinal digestion.

    Science.gov (United States)

    Rychlik, Joanna; Olejnik, Anna; Olkowicz, Mariola; Kowalska, Katarzyna; Juzwa, Wojciech; Myszka, Kamila; Dembczyński, Radosław; Moyer, Mary Pat; Grajek, Włodzimierz

    2015-07-01

    Broccoli is a common vegetable recognized as a rich source of antioxidants. To date, research on the antioxidant properties of broccoli, predominantly conducted on extracts, has not considered the lesions of composition and this activity after gastrointestinal digestion. Here the stability of antioxidants during gastrointestinal digestion was evaluated in conjunction with the protective effects of broccoli sprouts (BS) against oxidative stress in human colon cells. The obtained data suggest that, among the biocompounds identified in BS, glucosinolates were mainly degraded under gastrointestinal digestion, while phenolics, particularly hydroxycinnamic acid derivatives, were the most resistant constituents. The antioxidant capacity of BS extract subjected to gastrointestinal digestion was similar to or higher than that determined for non-digested BS. Gastrointestinal digested BS extract exhibited reactive oxygen species (ROS)-inhibitory capacity in NCM460 human colon cells, with 1 mg mL(-1) showing an ROS clearance of 76.59%. A 57.33% reduction in oxidative DNA damage in NCM460 cells due to treatment with digested BS extract was observed. The results lend support to the possible application of BS as a rich source of antioxidants to improve the defensive system against oxidative stress in the human colon mucosa. © 2014 Society of Chemical Industry.

  13. Long QT in children with congenital deafness: a brief report

    Directory of Open Access Journals (Sweden)

    Naseraldin Akbari Asbagh

    2013-08-01

    Full Text Available Background: Long QT syndromes (LQT are genetic abnormalities of ventricular repo-larization, with an estimated incidence of about one per 10000 births. It is characterized by prolongation of the QT interval in electrocardiogram (EKG and associated with a high risk for syncope and sudden death in patients. Type of this syndrome is association with congenital deafness. Our objective was to evaluate QT interval in children with congenital deafness.Methods: For 219 patients referred to Imam Khomeini Hospital audiometric clinic in 2011, questionnaire were completed. A total of 23 congenitally deaf children were incl-uded. All patients’ examinations were done by a pediatric cardiologist. Electrocardio-gram is conducted in all children (23 patients with sever and deep congenital deafness. Then the QT interval was measured based on Bazett’s formula. Echocardiography was also performed in these children to assess left ventricular function and the presence of mitral valve prolapse.Results: The overall patients were two hundred and nineteen children. A total of twenty three congenitally deaf children were included and electrocardiogram was obtained. Three children had obviously prolonged QTc (0.48±0.02 second. The median age of them was 6.1±5 year, the median weight was 18±11.3 kilogram and the median of QT interval was 0.48±0.02 second.Conclusion: The QT interval obtained 0.48±0.02 second. In the present study we found prolonged QT in congenital deafness, thus we recommend to evaluate the electrocardio-gram of children with congenital deafness.

  14. Calories count. Improved weight gain with dietary intervention in congenital heart disease.

    Science.gov (United States)

    Unger, R; DeKleermaeker, M; Gidding, S S; Christoffel, K K

    1992-09-01

    We assessed the nutritional status of patients with congenital heart disease (CHD) to evaluate the role of dietary intake in impaired weight for patient length. Underweight patients with CHD underwent nutritional counseling to evaluate the role of this intervention in improvement of weight for length. We prospectively evaluated a clinical protocol for nutritional assessment and counseling in patients with CHD. Eligible patients were enrolled from a cardiology clinic during a 13-month period. Initial anthropometric measurements and measurements of dietary intake of underweight and normal-weight patients were compared. Initial and follow-up measurements of underweight patients who received nutritional counseling were compared. Nineteen underweight patients with CHD and 16 normal-weight patients with CHD, aged 1 month to 2 years, were studied. Exclusion criteria included noncardiac factors that could affect growth (eg, low birth weight, Down syndrome, gastrointestinal deficit, and any severe abnormality of the central nervous system). Seventeen of the 19 underweight patients underwent nutritional counseling in the presence of a parent every 2 months for 6 months. Caloric and protein intakes were maximized using high-calorie formulas. Baseline dietary intake was lower in underweight patients than in normal-weight patients (mean percentage of the recommended daily allowance of calories, 89% vs 108%). Follow-up evaluation in normal-weight patients showed no change in percentage of ideal body weight for length. Follow-up evaluation in underweight patients showed improvement in mean dietary intake (from 90% to 104% of the recommended daily allowance of calories) and in mean percentage of ideal body weight for length after intervention (from 83.1% to 88.3%). Nutritional evaluation of patients with CHD demonstrated that underweight children had inadequate diets. Underweight patients with CHD who received nutritional counseling showed increased dietary intake and improved

  15. Congenital pseudarthrosis of the clavicle

    Energy Technology Data Exchange (ETDEWEB)

    Currarino, Guido [Texas Scottish Rite Hospital for Children, Department of Radiology, Dallas, TX (United States); Herring, John A. [Texas Scottish Rite Hospital for Children, Department of Orthopedic Surgery, Dallas, TX (United States)

    2009-12-15

    Congenital pseudarthrosis is an uncommon anomaly poorly referred to in the pediatric literature. To describe congenital pseudarthrosis in children. We discuss the presentation, clinical symptomatology, and treatment. We reviewed the records of four children with congenital pseudarthrosis from 1990 to 2009 at the radiology department of Texas Scottish Rite Hospital for Children. Four girls ages 4 through 14 were identified. Three children presented with a bulge in the mid-clavicle as a chief complaint. The fourth child (14 years old) had bluish discoloration of the right upper extremity with venous distention. Three of the four did not have other abnormalities, while the 14-year-old had exostosis on the left hand. The mid-portion of the right clavicle was involved in all four children. Three of the four were treated surgically. Congenital pseudarthrosis of the clavicle is an uncommon anomaly found mostly in girls and in the mid-right clavicle. (orig.)

  16. Sarcopenia and Postoperative Complication Risk in Gastrointestinal Surgical Oncology

    DEFF Research Database (Denmark)

    Simonsen, Casper; de Heer, Pieter; Bjerre, Eik D

    2018-01-01

    across stratification by sarcopenia criteria, assessment methods, study quality, and diagnoses. CONCLUSIONS: Sarcopenia was associated with an increased risk of complications after gastrointestinal tumor resection, but lack of methodological consensus hampers the interpretation and clinical utilization......OBJECTIVE: The aim of the study was to evaluate sarcopenia as a predictor of postoperative risk of major and total complications after surgery for gastrointestinal cancer. BACKGROUND: Sarcopenia is associated with poor survival in gastrointestinal cancer patients, but the role of sarcopenia...... used to estimate the pooled risk ratio for postoperative complications by Clavien-Dindo grade (total complications: grade ≥2; major complications: grade ≥3) in patients with sarcopenia versus patients without sarcopenia. Stratified analyses were performed by sarcopenia criteria, cutoff level...

  17. Gastrointestinal Stromal Tumors: A Case Report

    Directory of Open Access Journals (Sweden)

    Palankezhe Sashidharan

    2014-03-01

    Full Text Available Advances in the identification of gastrointestinal stromal tumors, its molecular and immunohiostochemical basis, and its management have been a watershed in the treatment of gastrointestinal tumors. This paradigm shift occurred over the last two decades and gastrointestinal stromal tumors have now come to be understood as rare gastrointestinal tract tumors with predictable behavior and outcome, replacing the older terminologies like leiomyoma, schwannoma or leiomyosarcoma. This report presents a case of gastric gastrointestinal stromal tumor operated recently in a 47-year-old female patient and the outcome, as well as literature review of the pathological identification, sites of origin, and factors predicting its behavior, prognosis and treatment.

  18. Physiologic Status Monitoring via the Gastrointestinal Tract.

    Directory of Open Access Journals (Sweden)

    G Traverso

    Full Text Available Reliable, real-time heart and respiratory rates are key vital signs used in evaluating the physiological status in many clinical and non-clinical settings. Measuring these vital signs generally requires superficial attachment of physically or logistically obtrusive sensors to subjects that may result in skin irritation or adversely influence subject performance. Given the broad acceptance of ingestible electronics, we developed an approach that enables vital sign monitoring internally from the gastrointestinal tract. Here we report initial proof-of-concept large animal (porcine experiments and a robust processing algorithm that demonstrates the feasibility of this approach. Implementing vital sign monitoring as a stand-alone technology or in conjunction with other ingestible devices has the capacity to significantly aid telemedicine, optimize performance monitoring of athletes, military service members, and first-responders, as well as provide a facile method for rapid clinical evaluation and triage.

  19. Animal models of gastrointestinal and liver diseases. Animal models of cystic fibrosis: gastrointestinal, pancreatic, and hepatobiliary disease and pathophysiology.

    Science.gov (United States)

    Olivier, Alicia K; Gibson-Corley, Katherine N; Meyerholz, David K

    2015-03-15

    Multiple organ systems, including the gastrointestinal tract, pancreas, and hepatobiliary systems, are affected by cystic fibrosis (CF). Many of these changes begin early in life and are difficult to study in young CF patients. Recent development of novel CF animal models has expanded opportunities in the field to better understand CF pathogenesis and evaluate traditional and innovative therapeutics. In this review, we discuss manifestations of CF disease in gastrointestinal, pancreatic, and hepatobiliary systems of humans and animal models. We also compare the similarities and limitations of animal models and discuss future directions for modeling CF. Copyright © 2015 the American Physiological Society.

  20. Congenital and perinatal cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Chun Soo Kim

    2010-01-01

    Full Text Available Cytomegalovirus (CMV is currently the most common agent of congenital infection and the leading infectious cause of brain damage and hearing loss in children. Symptomatic congenital CMV infections usually result from maternal primary infection during early pregnancy. One half of symptomatic infants have cytomegalic inclusion disease (CID, which is characterized by involvement of multiple organs, in particular, the reticuloendothelial and central nervous system (CNS. Moreover, such involvement may or may not include ocular and auditory damage. Approximately 90% of infants with congenital infection are asymptomatic at birth. Preterm infants with perinatal CMV infection can have symptomatic diseases such as pneumonia, hepatitis, and thrombocytopenia. Microcephaly and abnormal neuroradiologic imaging are associated with a poor prognosis. Hearing loss may occur in both symptomatic and asymptomatic infants with congenital infection and may progress through childhood. Congenital infection is defined by the isolation of CMV from infants within the first 3 weeks of life. Ganciclovir therapy can be considered for infants with symptomatic congenital CMV infection involving the CNS. Pregnant women of seronegative state should be counseled on the importance of good hand washing and other control measures to prevent CMV infection. Heat treatment of infected breast milk at 72?#608;for 5 seconds can eliminate CMV completely.

  1. Gastrointestinal hormones and their targets

    DEFF Research Database (Denmark)

    Rehfeld, Jens F.

    2014-01-01

    Gastrointestinal hormones are peptides released from endocrine cells and neurons in the digestive tract. More than 30 hormone genes are currently known to be expressed in the gastrointestinal tract, which makes the gut the largest hormone producing organ in the body. Modern biology makes...... it feasible to conceive the hormones under five headings: The structural homology groups a majority of the hormones into nine families, each of which is assumed to originate from one ancestral gene. The individual hormone gene often has multiple phenotypes due to alternative splicing, tandem organization......, or differentiated maturation of the prohormone. By a combination of these mechanisms, more than 100 different hormonally active peptides are released from the gut. Gut hormone genes are also widely expressed in cells outside the gut, some only in extraintestinal endocrine cells and neurons but others also in other...

  2. Incidence of legal abortions and congenital abnormalities in Hungary

    Energy Technology Data Exchange (ETDEWEB)

    Czeizel, A.E. (National Institute of Hygiene, Budapest (HU))

    1991-01-01

    The annual and monthly distributions of congenital abnormalities and pregnancy outcomes as confounding factors were evaluated in Hungary in reflection of the accident at the Chernobyl reactor. The different congenital abnormality entities and the components of fetal radiation syndrome did not show a higher rate after the Chernobyl accident in the data-set of the Hungarian Congenital Abnormality Registry. Among confounding factors, the rate of induced abortions did not increase after the Chernobyl accident in Hungary. In the 9th month after the peak of public concern (May and June, 1986) the rate of livebirths decreased. Three indicator conditions: 15 sentinel anomalies as indicators of germinal dominant gene mutations, Down syndrome as an indicator of germinal numerical and structural chromosomal mutations, and unidentified multiple congenital abnormalities as indicators of germinal dominant gene and chromosomal mutations were selected from the material of the Hungarian Congenital Abnormality Registry. Diagnoses were checked, familial and sporadic cases were separated and only the sporadic cases were evaluated. The analysis of indicator conditions did not reveal any measurable germinal mutagenic effect of the Chernobyl accident in Hungary.

  3. Hearing loss in congenital toxoplasmosis detected by newborn screening.

    Science.gov (United States)

    Andrade, Gláucia Manzan Queiroz de; Resende, Luciana Macedo de; Goulart, Eugênio Marcos Andrade; Siqueira, Arminda Lucia; Vitor, Ricardo Wagner de Almeida; Januario, José Nelio

    2008-01-01

    Congenital toxoplasmosis may cause sensorineural deficit in up to 20% of the patients and proper treatment in the first year improves prognosis. In Brazil, this infections impact on hearing impairment is unknown. To evaluate hearing of newborns with congenital toxoplasmosis identified by the newborn screening service. This prospective study analyzed children with congenital toxoplasmosis identified by newborn screening (IgM anti-T.gondii) in Belo Horizonte during 2003/2004. The presence of IgM and/or IgA in the first 6 months or IgG at 12 months-of age in serology was used as case definition. Hearing tests were carried out at the time of diagnosis and 12 months later, including behavioral audiometry, evoked otoacoustic emission and brainstem evoked responses audiometry. Among 30.808 screened children (97% of live births), 20 had congenital toxoplasmosis, 15 (75%) were asymptomatic at birth. Nineteen children were evaluated by hearing tests. Four had sensorineural impairment (21.1%). One child had other risk factors for hearing impairment; the other three had no other risk factors but toxoplasmosis. Two properly children treated still had hearing loss, in disagreement with current literature. Results suggest that congenital toxoplasmosis, common in Brazil, is a risk factor for hearing impairment and its impact on hearing loss deserves further studies.

  4. Basic mechanisms of the aging gastrointestinal tract.

    Science.gov (United States)

    Salles, N

    2007-01-01

    The goal of this short review is to summarize recent data on gastrointestinal changes with aging, focusing on gastrointestinal motility disorders, and mucosal variations. First of all, this review focused on gastrointestinal motility disorders with aging, even though an increased prevalence of several gastrointestinal motor disorders (i.e., dysphagia, dyspepsia, anorexia, and constipation) occurs in older people, aging per se appears to have a minor direct effect on most gastrointestinal functions. Secondly, this review focused on histological changes with aging, i.e., regulation of gastrointestinal mucosal growth, gastrointestinal carcinogenesis, and gastric mucosal changes, especially changes in gastric acid secretion, bacterial overgrowth and its consequences on elderly patients. Copyright 2007 S. Karger AG, Basel.

  5. Therapeutic Vaccines for Gastrointestinal Cancers

    OpenAIRE

    Rahma, Osama E; Khleif, Samir N.

    2011-01-01

    Despite progress in the management of gastrointestinal malignancies, these diseases remain devastating maladies. Conventional treatment with chemotherapy and radiation is still only partially effective and highly toxic. In the era of increasing knowledge of the molecular biology of tumors and the interaction between the tumor and immune system, the development of targeted agents, including cancer vaccines, has emerged as a promising modality. In this paper, we discuss the principals of vaccin...

  6. Gastrointestinal complications in renal transplantation

    Directory of Open Access Journals (Sweden)

    Kamal Jeet Singh

    2004-01-01

    Full Text Available Objective: Gastrointestinal complications are responsible for substantial morbidity and mortality among renal allograft recipients. We retrospectively analyzed incidence of these complications and their impact on the patient outcome. Materials & Methods: Between 1998 to Aug 2002, 558 live related renal transplants were performed at our center. The immunosuppression used consisted mainly of cyclosporine, azathioprine and prednisolone, though varied in some patients. These patients were followed for any occurrence of significant gastrointestinal problems. Results: Out of the of 538 renal transplant recipients studied, gastro esophageal ulcerations were seen in 3% patients. Acute pancreatitis was observed in twelve (2.2% patients and four patients had acute intestinal obstruction secondary to fecal impaction. Infectious complications included acute diarrheas in 18% of patients. Three patients developed abdominal tuberculosis. Acute rejection episodes were encountered in 26% of the patients. During these episodes, 58% of patients experienced prolonged ileus. Most of these complications (66% occurred within first one-year post transplant. Three patients presenting with acute intestinal obstruction required laparotomy (two- bands, one-intussusception. There were four mortalities -two patients had severe pancreatitis, one patient had massive upper GI bleed and one succumbed due to perforation peritonitis. Conclusions: Gastrointestinal complications account for significant morbidity and mortality in renal transplant recipients. Paralytic ileus secondary to acute vascular rejection is quite common and resolves spontaneously with recovery of renal function.

  7. Retention of foreign body in the gut can be a sign of congenital obstructive anomaly: a case report

    Directory of Open Access Journals (Sweden)

    Subudhi Pravas

    2008-09-01

    Full Text Available Abstract Introduction Small smooth objects that enter the gut nearly always pass uneventfully through the gastrointestinal tract. Retention of foreign objects may occur due to congenital obstructive anomaly of the gut. Case presentation We report here a child who presented with features of small gut obstruction which were attributed to a foreign body impacted in the intestine. At surgery, an annular pancreas was detected and the foreign body was found to be lodged in the distended proximal duodenum. Conclusion The reported case highlights the fact that an impacted radio-opaque foreign body in a child should warn the pediatrician to the possibility of an obstructive congenital anomaly.

  8. Causes of interruptions in postoperative enteral nutrition in children with congenital heart disease.

    Science.gov (United States)

    Qi, Jirong; Li, Zhuo; Cun, Yueshuang; Li, Xiaonan

    2017-05-01

    Perioperative nutritional support has become a hot topic in the clinical management of congenital heart disease (CHD). Postoperative enteral nutrition (EN) offers many benefits, such as protection of the intestinal mucosa, reduced risk of infection, and low clinical costs. Interruptions in EN frequently influence nutritional support and clinical outcomes. We, therefore, aimed to determine the causes of interruptions in postoperative EN in CHD patients and discuss clinical counter measures. We analyzed the data of 360 CHD patients to determine the causes of interruptions in postoperative EN and develop possible clinical strategies to prevent such interruptions. Of the 360 patients (aged from 1 month to 6 years), 198 patients had at least one EN interruption. The total number of interruptions was 498 (average, 2.52 interruptions/ patient). Non-gastrointestinal factors (airway management, fluid overload, invasive procedure, increased intracranial pressure, feeding tube block, and clinical deterioration) accounted for 67.8% (338/498) of all interruptions and gastrointestinal factors (vomiting, gastrointestinal bleeding, diarrhea, constipation, and large gastric residual volume) accounted for 32.2% (160/498). The total number of interruptions and the number of interruptions due to gastrointestinal factors were significantly higher in younger patients (aged from 1-12 months) than in older patients (aged from 1-6 years). Non-gastrointestinal factors were the main causes of interruptions in postoperative EN in CHD patients. Younger patients had a greater number of interruptions as a whole, and more interruptions caused by gastrointestinal factors. Gastrointestinal factors can be reduced by tube feeding and use of gastrointestinal motility drugs.

  9. Gas tonometry for evaluation of gastrointestinal mucosal perfusion: experimental and clinical sepsis¹. part 2 Tonometria a gás para a avaliação da perfusão da mucosa gastrointestinal: sepse clínica e experimental. Parte 2

    Directory of Open Access Journals (Sweden)

    Eliezer Silva

    2002-09-01

    Full Text Available Substantial clinical and animal evidences indicate that the mesenteric circulatory bed, particularly the gut mucosa, is highly vulnerable to reductions in oxygen supply and prone to early injury in the course of hemodynamic changes induced by sepsis and septic shock. Gut hypoxia or ischemia is one possible contributing factor to gastrointestinal tract barrier dysfunction that may be associated with the development of systemic inflammatory response and multiple organ dysfunction syndrome, the principal cause of death after sepsis. Monitoring gut perfusion during experimental and clinical sepsis may provide valuable insights over new interventions and therapies highly needed to reduce multiple organ dysfunction and sepsis-related morbidity and mortality. We present our experience with gas tonometry as a monitor of the adequacy of gastrointestinal mucosal perfusion in experimental models sepsis and with the use of vasoactive agents for hemodynamic management in patients with septic shock.Evidências clínicas e experimentais substanciais indicam que o território circulatório mesentérico, principalmente na mucosa intestinal, é altamente vulnerável a redução na oferta de oxigênio e predisposto a lesão precoce na presença de alterações hemodinâmicas induzidas pela sepse e choque séptico. A hipóxia ou isquemia intestinal é um dos possíveis mecanismos contribuintes para a disfunção da barreira gastrointestinal que pode estar associada com o desenvolvimento da resposta inflamatória sistêmica e com a síndrome da disfunção de múltiplos órgãos, a principal causa comum de morte na sepse. Monitorar a perfusão intestinal na sepse experimental e clínica pode fornecer dados valiosos quanto a novas intervenções e tratamentos altamente necessários para reduzir disfunção de múltiplos órgãos e mortalidade extremamente elevadas na sepse. Apresentamos nossa experiência com a tonometria a gás como monitor da adequação da perfus

  10. Avaliação da atividade mioelétrica do trato gastrointestinal em cães: avaliação de um sistema de fixação de eletrodos na parede abdominal Gastrointestinal myoelectric activity in dogs: evaluation of a fixation system of electrodes on the abdominal wall

    Directory of Open Access Journals (Sweden)

    Álvaro Antônio Bandeira Ferraz

    2002-01-01

    Full Text Available OBJETIVO: A implantação de eletrodos intra-abdominais para captura de sinais de onda elétrica constitui instrumento de estudo da atividade mioelétrica do tubo gastrointestinal. O deslocamento destes eletrodos do local de implantação ocorre com certa freqüência em animais de experimentação não anestesiados, devido aos movimentos da musculatura diafragmática, abdominal, do peristaltismo gastrintestinal e sobretudo aos hábitos inerentes à espécie de animal estudada, particularmente presentes em caninos. No referido estudo foi proposto um procedimento que proporciona estabilidade ao referido sistema utilizando-se recursos simples e de custos irrelevantes. MÉTODOS: Os autores apresentam através de diagramas e fotos um sistema de ancoração dos eletrodos elétricos na pele dos animais com botões. RESULTADOS: Foram realizados 5 experimentos, fixando-se em cada animal 3 eletrodos bipolares. Os animais foram mantidos em repouso até a completa recuperação do íleo paralítico. Não foi identificado nos animais estudados nenhuma migração dos eletrodos. CONCLUSÃO: O procedimento proposto é eficiente, simples, de fácil confecção e permite o monitoramento da atividade mioelétrica, em cães não anestesiados, por períodos de tempo prolongado.OBJECTIVE: The use of intra-abdominal electrodes in the study of gastrointestinal electrical wave is an important instrument of the gastrointestinal mioelectric activity. However, the dislocations of the electrodes in non-anaesthetized animals due to diaphragmatic muscle movements, gastrointestinal movements and mainly due to the animals habits, especially in dogs. The study has the objective to demonstrate a procedure that stabilize the system using simple resources an irrelevant cost. METHODS: The authors demonstrate under diagrams and picture a fixed system to fix the electrical electrodes through the animal skin using bottoms. RESULTS: The system was used in 5 animals. Each animal had 3

  11. Increased arterial stiffness in children with congenital heart disease.

    Science.gov (United States)

    Häcker, Anna-Luisa; Reiner, Barbara; Oberhoffer, Renate; Hager, Alfred; Ewert, Peter; Müller, Jan

    2018-01-01

    Objective Central systolic blood pressure (SBP) is a measure of arterial stiffness and strongly associated with atherosclerosis and end-organ damage. It is a stronger predictor of cardiovascular events and all-cause mortality than peripheral SBP. In particular, for children with congenital heart disease, a higher central SBP might impose a greater threat of cardiac damage. The aim of the study was to analyse and compare central SBP in children with congenital heart disease and in healthy counterparts. Patients and methods Central SBP was measured using an oscillometric method in 417 children (38.9% girls, 13.0 ± 3.2 years) with various congenital heart diseases between July 2014 and February 2017. The test results were compared with a recent healthy reference cohort of 1466 children (49.5% girls, 12.9 ± 2.5 years). Results After correction for several covariates in a general linear model, central SBP of children with congenital heart disease was significantly increased (congenital heart disease: 102.1 ± 10.2 vs. healthy reference cohort: 100.4 ± 8.6, p heart disease subgroups revealed higher central SBP in children with left heart obstructions (mean difference: 3.6 mmHg, p hearts after total cavopulmonary connection (mean difference: 2.1 mmHg, p = .015) compared with the reference. Conclusion Children with congenital heart disease have significantly higher central SBP compared with healthy peers, predisposing them to premature heart failure. Screening and long-term observations of central SBP in children with congenital heart disease seems warranted in order to evaluate the need for treatment.

  12. Instrumentation and fusion for congenital spine deformities.

    Science.gov (United States)

    Hedequist, Daniel J

    2009-08-01

    A retrospective clinical review. To review the use of modern instrumentation of the spine for congenital spinal deformities. Spinal instrumentation has evolved since the advent of the Harrington rod. There is a paucity of literature, which discusses the use of modern spinal instrumentation in congenital spine deformity cases. This review focuses on modern instrumentation techniques for congenital scoliosis and kyphosis. A systematic review was performed of the literature to discuss spinal implant use for congenital deformities. Spinal instrumentation may be safely and effectively used in cases of congenital spinal deformity. Spinal surgeons taking care of children with congenital spine deformities need to be trained in all aspects of modern spinal instrumentation.

  13. Neurodevelopmental outcomes in children with congenital hypothyroidism

    OpenAIRE

    Almeida, Carolina Lopes de

    2016-01-01

    Trabalho de revisão do 6º ano médico com vista à atribuição do grau de mestre (área científica de pediatria) no âmbito do ciclo de estudos de Mestrado Integrado em Medicina. Although prognosis of Congenital Hypothyroidism (CH) has been greatly modified since the introduction of newborn screening programs, persistent cognitive deficits are still reported. The aim of this study was to evaluate neurodevelopmental outcomes of children with CH and to determine whether severity of CH, age of...

  14. Scrotoschisis: A rare congenital urologic anomaly

    Directory of Open Access Journals (Sweden)

    Aliyu Umar Farinyaro

    2015-02-01

    Full Text Available Scrotoschisis is a congenital extrusion of the testis through a defect in the scrotum. The condition is extremely rare, with only a few cases reported in the literature. We present 2 full term neonates one of whom had bilateral and the other right scrotoschisis and a contralateral communicating hydrocele. They presented at the ages of 7 and 22 days, as referral from rural health centers. They both had successful repair. Testes were in the scrotum after 1 year and 6 months follow-up, respectively. Long term follows up and further evaluations are, therefore, required.

  15. Congenital aniridia with cataract: case series.

    Science.gov (United States)

    Wang, Jin Da; Zhang, Jing Shang; Xiong, Ying; Li, Jing; Li, Xiao Xia; Liu, Xue; Zhao, Jing; Tsai, Frank F; Vishal, Jhanji; You, Qi Sheng; Huang, Yao; Wan, Xiu Hua

    2017-07-04

    This study evaluates patients with congenital aniridia and cataract who underwent phacoemulsification, capsular tension ring placement, and foldable intraocular lens implantation. In this prospective case series, 10 patients (17 eyes) underwent cataract surgery via a 3.2 mm clear corneal incision. A continuous circular capsulorhexis with cataract by phacoemulsification, posterior chamber foldable lens implantation, capsular tension ring placement was safe and effective. Use of colored contact lenses in the postoperative period can reduce photophobic symptoms in this group of patients. ChiCTR-OOC-17011638 (retrospectively registered at 12,June,2017).

  16. Myocardial Fibrosis in Congenital Heart Disease.

    Science.gov (United States)

    Rathod, Rahul H; Powell, Andrew J; Geva, Tal

    2016-05-25

    Myocardial fibrosis is common in patients with congenital heart disease (CHD) and has been associated with arrhythmias, decreased functional status, and adverse ventricular mechanics. There are multiple types of myocardial fibrosis that occur in response to different pathophysiologic stimuli. Recent advances in imaging technology have made detection and quantification of the types of myocardial fibrosis possible. In this review, we describe the pathophysiology of myocardial fibrosis, examine the imaging techniques used to evaluate fibrosis, and discuss the relationship between myocardial fibrosis and clinical outcomes in CHD. (Circ J 2016; 80: 1300-1307).

  17. Congenital parotid fistula

    Directory of Open Access Journals (Sweden)

    Shiggaon Natasha

    2014-01-01

    Full Text Available Parotid fistula is a cause of great distress and embarrassment to the patient. Parotid fistula is most commonly a post-traumatic situation. Congenital parotid salivary fistulas are unusual entities that can arise from accessory parotid glands or even more infrequently, from normal parotid glands through an aberrant Stensen′s duct. The treatment of fistulous tract is usually surgical and can be successfully excised after making a skin incision along the skin tension line around the fistula opening. This report describes a case of right accessory parotid gland fistula of a 4-year-old boy with discharge of pus from right cheek. Computed tomography (CT fistulography and CT sialography demonstrated fistulous tract arising from accessory parotid gland. Both CT fistulography and CT sialography are very helpful in the diagnosis and surgical planning. In this case, superficial parotidectomy is the treatment of choice. A detailed history, clinical and functional examination, proper salivary gland investigations facilitates in correct diagnosis followed by immediate surgical intervention helps us to restore physical, psychological health of the child patient.

  18. Congenital lipoid adrenal hyperplasia

    Science.gov (United States)

    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

  19. Congenital hypothyroidism in neonates

    Directory of Open Access Journals (Sweden)

    Aneela Anjum

    2014-01-01

    Full Text Available Context: Congenital hypothyroidism (CH is one of the most common preventable causes of mental retardation in children and it occurs in approximately 1:2,000-1:4,000 newborns. Aims and Objectives: The aim of this study is to determine the frequency of CH in neonates. Settings and Design: This cross-sectional study was conducted in neonatal units of the Department of Pediatrics Unit-I, King Edward Medical University/Mayo Hospital, Lahore and Lady Willington Hospital Lahore in 6 months (January-June 2011. Materials and Methods: Sample was collected by non-probability purposive sampling. After consent, 550 newborn were registered for the study. Demographic data and relevant history was recorded. After aseptic measures, 2-3 ml venous blood analyzed for thyroid-stimulating hormone (TSH level by immunoradiometric assay. Treatment was started according to the individual merit as per protocol. Statistical Analysis Used: Data was analyzed by SPSS 17 and Chi-square test was applied to find out the association of CH with different variables. Results: The study population consisted of 550 newborns. Among 550 newborns, 4 (0.8% newborns had elevated TSH level. CH had statistically significant association with mother′s hypothyroidism (P value 0.000 and mother′s drug intake during the pregnancy period (P value 0.013. Conclusion: CH is 0.8% in neonates. It has statistically significant association with mother′s hypothyroidism and mother′s drug intake during pregnancy.

  20. Congenital hyperthyroidism: autopsy report

    Directory of Open Access Journals (Sweden)

    Lima Marcus Aurelho de

    1999-01-01

    Full Text Available We report the autopsy of a stillborn fetus with congenital hyperthyroidism born to a mother with untreated Graves' disease, whose cause of death was congestive heart failure. The major findings concerned the skull, thyroid, heart, and placenta. The cranial sutures were closed, with overlapping skull bones. The thyroid was increased in volume and had intense blood congestion. Histological examination showed hyperactive follicles. The heart was enlarged and softened, with dilated cavities and hemorrhagic suffusions in the epicardium. The placenta had infarctions that involved at least 20% of its surface, and the vessels of the umbilical cord were fully exposed due to a decrease in Wharton 's jelly. Hyperthyroidism was confirmed by the maternal clinical data, the fetal findings of exophthalmia, craniosynostosis, and goiter with signs of follicular hyperactivity. Craniosynostosis is caused by the anabolic action of thyroid hormones in bone formation during the initial stages of development. The delayed initiation of treatment in the present case contributed to the severity of fetal hyperthyroidism and consequent fetal death.