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Sample records for clinically suspected congenital

  1. Case report: Suspected clinical-radiological discord

    Directory of Open Access Journals (Sweden)

    Martin Tombe

    2013-02-01

    Full Text Available 17-year male student presented with vague constitutional symptoms and jaundice. His clinical chest findings initially suggested a discord with radiological findings. It turned out that the patient had a rare congenital disorder in addition to a seemingly common condition that brought him to the hospital. The purpose of this case presentation is to share some challenges of a clinical-radiological discord in a teaching hospital in Zimbabwe. It shows a flow of teamwork from House Officers to the Consultants as well as radiological back up.

  2. Use of IgG in oral fluid to monitor infants with suspected congenital toxoplasmosis.

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    Chapey, Emmanuelle; Meroni, Valeria; Kieffer, François; Bollani, Lina; Ecochard, René; Garcia, Patricia; Wallon, Martine; Peyron, François

    2015-04-01

    Infants born to mothers who seroconverted for toxoplasmosis during pregnancy are at risk of sequelae. In the case of a negative work-up at birth, congenital infection can be ruled out only by monitoring the disappearance of maternal immunoglobulin G (IgG) transmitted through the placenta, which can be achieved by regular blood sampling during the first year. To alleviate the discomfort of this follow-up, we developed an indirect enzyme-linked immunosorbent assay to detect specific IgG diffusing passively from the blood through the gingival epithelium by collecting oral fluid on microsponges. To assess the feasibility of the test, 212 patients were first enrolled. Levels of specific IgG in oral fluid were significantly higher in seropositive (n = 195) than in seronegative (n = 17) patients (mean optical densities, 1.145 ± 0.99 versus 0.092 ± 0.127; P < 0.0001). In a population of 93 patients <15 months of age born to mothers who displayed toxoplasmic infection during pregnancy, 70 were free of congenital infection and were followed up until their serology turned negative, and 23 were congenitally infected. The same patterns of IgG were observed in the oral fluid and sera in each group. Using a cutoff of 0.04 (optical density value), the sensitivity and specificity of the test were 67.9% and 80.3%, respectively, and the probability of not having a congenital infection when the test on oral fluid was negative was 99%. Although the performance of the test needs to be improved, oral fluid sampling appears to be a promising tool for monitoring infants with suspected congenital toxoplasmosis. Copyright © 2015, American Society for Microbiology. All Rights Reserved.

  3. The clinical course of patients with suspected pulmonary embolism

    NARCIS (Netherlands)

    van Beek, E. J.; Kuijer, P. M.; Büller, H. R.; Brandjes, D. P.; Bossuyt, P. M.; ten Cate, J. W.

    1997-01-01

    BACKGROUND: The outcome of patients with suspected pulmonary embolism is known to a limited extent only. OBJECTIVE: To address this limited knowledge in a cohort in whom pulmonary embolism was proved or ruled out. METHODS: Consecutive patients with clinically suspected pulmonary embolism underwent

  4. Congenital clinical malaria: Incidence, management and outcome ...

    African Journals Online (AJOL)

    Objective: With paucity of documentation of congenital clinical malaria in the world literature, we therefore aimed to review its rates, presentation, management and out come of this problem in neonates at the Usmanu Danfodiyo University Teaching Hospital, Sokoto. Methodology: This prospective study was carried out in ...

  5. MRI for clinically suspected pediatric appendicitis: an implemented program

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    Moore, Michael M.; Gustas, Cristy N.; Choudhary, Arabinda K.; Methratta, Sosamma T.; Hulse, Michael A.; Eggli, Kathleen D.; Boal, Danielle K.B. [Penn State Milton S. Hershey Medical Center, Department of Radiology, Mail Code H066, 500 University Drive, P.O. Box 850, Hershey, PA (United States); Geeting, Glenn [Penn State Milton S. Hershey Medical Center, Department of Emergency Medicine, Hershey, PA (United States)

    2012-09-15

    Emergent MRI is now a viable alternative to CT for evaluating appendicitis while avoiding the detrimental effects of ionizing radiation. However, primary employment of MRI in the setting of clinically suspected pediatric appendicitis has remained significantly underutilized. To describe our institution's development and the results of a fully implemented clinical program using MRI as the primary imaging evaluation for children with suspected appendicitis. A four-sequence MRI protocol consisting of coronal and axial single-shot turbo spin-echo (SS-TSE) T2, coronal spectral adiabatic inversion recovery (SPAIR), and axial SS-TSE T2 with fat saturation was performed on 208 children, ages 3 to 17 years, with clinically suspected appendicitis. No intravenous or oral contrast material was administered. No sedation was administered. Data collection includes two separate areas: time parameter analysis and MRI diagnostic results. Diagnostic accuracy of MRI for pediatric appendicitis indicated a sensitivity of 97.6% (CI: 87.1-99.9%), specificity 97.0% (CI: 93.2-99.0%), positive predictive value 88.9% (CI: 76.0-96.3%), and negative predictive value 99.4% (CI: 96.6-99.9%). Time parameter analysis indicated clinical feasibility, with time requested to first sequence obtained mean of 78.7 +/- 52.5 min, median 65 min; first-to-last sequence time stamp mean 14.2 +/- 8.8 min, median 12 min; last sequence to report mean 57.4 +/- 35.2 min, median 46 min. Mean age was 11.2 +/- 3.6 years old. Girls represented 57% of patients. MRI is an effective and efficient method of imaging children with clinically suspected appendicitis. Using an expedited four-sequence protocol, sensitivity and specificity are comparable to CT while avoiding the detrimental effects of ionizing radiation. (orig.)

  6. Spatial epidemiology of suspected clinical leptospirosis in Sri Lanka.

    Science.gov (United States)

    Robertson, C; Nelson, T A; Stephen, C

    2012-04-01

    Leptospirosis is one of the most widespread zoonoses in the world. A large outbreak of suspected human leptospirosis began in Sri Lanka during 2008. This study investigated spatial variables associated with suspected leptospirosis risk during endemic and outbreak periods. Data were obtained for monthly numbers of reported cases of suspected clinical leptospirosis for 2005-2009 for all of Sri Lanka. Space-time scan statistics were combined with regression modelling to test associations during endemic and outbreak periods. The cross-correlation function was used to test association between rainfall and leptospirosis at four locations. During the endemic period (2005-2007), leptospirosis risk was positively associated with shorter average distance to rivers and with higher percentage of agriculture made up of farms <0·20 hectares. Temporal correlation analysis of suspected leptospirosis cases and rainfall revealed a 2-month lag in rainfall-case association during the baseline period. Outbreak locations in 2008 were characterized by shorter distance to rivers and higher population density. The analysis suggests the possibility of household transmission in densely populated semi-urban villages as a defining characteristic of the outbreak. The role of rainfall in the outbreak remains to be investigated, although analysis here suggests a more complex relationship than simple correlation.

  7. MRI for clinically suspected pediatric appendicitis: case interpretation

    International Nuclear Information System (INIS)

    Moore, Michael M.; Brian, James M.; Methratta, Sosamma T.; Hulse, Michael A.; Choudhary, Arabinda K.; Eggli, Kathleen D.; Boal, Danielle K.B.

    2014-01-01

    As utilization of MRI for clinically suspected pediatric appendicitis becomes more common, there will be increased focus on case interpretation. The purpose of this pictorial essay is to share our institution's case interpretation experience. MRI findings of appendicitis include appendicoliths, tip appendicitis, intraluminal fluid-debris level, pitfalls of size measurements, and complications including abscesses. The normal appendix and inguinal appendix are also discussed. (orig.)

  8. MRI for clinically suspected pediatric appendicitis: case interpretation

    Energy Technology Data Exchange (ETDEWEB)

    Moore, Michael M.; Brian, James M.; Methratta, Sosamma T.; Hulse, Michael A.; Choudhary, Arabinda K.; Eggli, Kathleen D.; Boal, Danielle K.B. [Penn State Milton S. Hershey Medical Center, Division of Pediatric Radiology, Department of Radiology, Hershey, PA (United States)

    2014-05-15

    As utilization of MRI for clinically suspected pediatric appendicitis becomes more common, there will be increased focus on case interpretation. The purpose of this pictorial essay is to share our institution's case interpretation experience. MRI findings of appendicitis include appendicoliths, tip appendicitis, intraluminal fluid-debris level, pitfalls of size measurements, and complications including abscesses. The normal appendix and inguinal appendix are also discussed. (orig.)

  9. Clinical presentation and management of congenital ptosis

    Directory of Open Access Journals (Sweden)

    Marenco M

    2017-02-01

    Full Text Available Marco Marenco,1,* Ilaria Macchi,2,* Iacopo Macchi,3 Emilio Galassi,4 Mina Massaro-Giordano,5 Alessandro Lambiase1 1Department of Sense Organs, University of Rome “Sapienza”, 2Department of Ophthalmology, Campus Bio-Medico University of Rome, Rome, 3Department of Ophthalmology, University of Catania, Catania, 4Ophthalmic Clinic, Department of Ophthalmology, University of L’Aquila, L’Aquila, Italy; 5Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA *These authors contributed equally to this work Abstract: Congenital ptosis is a rare condition characterized by lower positioning of the upper eyelid that is present at birth and is a clinical condition that is persistent if not treated. It may be unilateral or bilateral and may be associated with other ocular disorders or systemic conditions, including Marcus Gunn, Horner, and Duane syndromes. It is a benign condition but causes functional, cosmetic, and psychological problems in children. However, not all patients need to undergo surgery, and usually only patients at risk of amblyopia need a prompt surgical correction, while in other cases, surgery can be postponed. The grade of ptosis, the eyelid function, and the amblyopic risk are the parameters that affect the ophthalmologist’s decision on timing of surgery and the surgical technique to be used. In fact, there are several types of surgical techniques to correct a congenital ptosis, although very often more than one is needed to obtain an acceptable result. This paper reviews the causes of congenital ptosis and associated diseases. Particular emphasis is given to surgical management and different procedures available to correct the upper eyelid anomaly and avoid permanent damage to visual function. Keywords: ptosis, extraocular muscle development, neurologic dysfunction, surgical approach

  10. Incidence of clinically suspected venous thromboembolism in British Indian patients.

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    Siddiqui, B M; Patel, M S; Rudge, S; Best, A; Mangwani, J

    2018-05-01

    Introduction Venous thromboembolism (VTE) remains a major public health issue around the world. Ethnicity is known to alter the incidence of VTE. To our knowledge, there are no reports in the literature investigating the incidence of VTE in British Indians. The aim of this study was to investigate the rates of symptomatic VTE in British Indian patients in the UK. Methods Patients referred to our institution between January 2011 and August 2013 with clinically suspected VTE were eligible for inclusion in the study. Those not of British Indian or Caucasian ethnicity were excluded. A retrospective review of these two cohorts was conducted. Results Overall, 15,529 cases were referred to our institution for suspected VTE. This included 1,498 individuals of British Indian ethnicity. Of these, 182 (12%) had confirmed VTE episodes. A further 13,159 of the patients with suspected VTE were coded as Caucasian, including 2,412 (16%) who had confirmed VTE events. VTE rates were a third lower in British Indians with clinically suspected VTE than in the equivalent Caucasian group. The British Indian cohort presented with VTE at a much earlier age than Caucasians (mean 57.0 vs 68.0 years). Conclusions This study suggests that British Indian patients have a lower incidence of VTE and are more likely to present at an earlier age than Caucasians. There was no significant difference in VTE type (deep vein thrombosis vs pulmonary embolism) among the ethnic groups. Clinicians should be aware of variations within ethnicities but should continue to adhere to existing VTE prevention guidance.

  11. Congenital hypothyroidism - An usual suspect at an unusual age: A case series

    Directory of Open Access Journals (Sweden)

    Suja P Sukumar

    2013-01-01

    Full Text Available Menorrhagia is the most common menstrual irregularity in hypothyroid women. However, it is an uncommon presentation of congenital hypothyroidism (CH. In the era of newborn screening across the world, when CH is extremely rare, we came across four cases of CH due to delayed diagnosis, presenting in adulthood with severe menorrhagia. Aims: To signify the atypical presentation of CH in late adulthood due to delayed diagnosis and its sequelae; and to increase the awareness about this treatable condition. Settings and Design: This is a cross-sectional analysis of consecutive patients with CH presenting after 18 years between 2010 and 2012 from the CH registry of Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER, India. Subjects and Methods: Four patients of CH presenting late (>18 years with atypical presentations out of total 16 cases of CH within a period of 3 years were analyzed for clinical, hormonal, and imaging findings. Results: Between the years 2010 and 2012, 16 cases of CH were registered at our center out of which four cases presented in late adolescence and adulthood with menorrhagia. Age range of these patients was 18-30 years. All four patients were females presenting with anemia secondary to menorrhagia and upon evaluation were found to have CH. All of them showed improvement after starting treatment and are currently doing well with regular menstrual cycles. Conclusions: Our study demonstrates the importance of thyroid evaluation in a patient presenting with menorrhagia along with short stature. There is need for awareness among clinicians regarding the clinical features of CH and nationwide screening for CH in our country.

  12. Early diagnosis of dengue virus infection in clinically suspected cases

    International Nuclear Information System (INIS)

    Afridi, N.K.; Ahmed, S.; Ali, N.; Khan, S.A.

    2016-01-01

    Objective: Comparison of real time reverse transcriptase polymerase chain reaction (RTPCR) and immunoglobulin M (IgM) capture enzyme linked immunosorbent assay (ELISA) for diagnosis of dengue virus infection in first week of illness in clinically suspected patients of dengue fever. Study Design: Cross sectional study. Place and Duration of Study: Department of haematology, Armed Forces Institute of Pathology (AFIP) Rawalpindi from Jan 2013 to Nov 2013. Material and Methods: A cross sectional study including 68 clinically suspected patients of dengue fever according to the World Health Organization (WHO) criteria. IgM capture ELISA and RT PCR for dengue virus ribonucleic acid (RNA) was performed on samples collected from patients having fever for 1 to 7 days. These were divided into two groups. Patients in group 1 presented with fever of 4 days or less, patients in group 2 had fever of 5 to 7 days duration. Results: In group 1, 72 percent of the patients were positive by RT PCR while 31 percent were positive by IgM capture ELISA. In group 2, 43 percent of the patients were positive by RT PCR while 97 percent were positive by ELISA. Conclusion: RT PCR can be used for early detection of dengue virus infection in the first few days of fever while IgM ELISA is diagnostic afterwards. (author)

  13. Unenhanced MR Imaging in adults with clinically suspected acute appendicitis

    DEFF Research Database (Denmark)

    Chabanova, Elizaveta; Balslev, Ingegerd; Achiam, Michael

    2011-01-01

    PURPOSE: The purpose of the study was to evaluate unenhanced Magnetic Resonance Imaging (MRI) for the diagnosis of appendicitis or another surgery-requiring condition in an adult population scheduled for emergency appendectomy based on a clinical diagnosis of suspected acute appendicitis. MATERIALS...... radiologists and one surgeon independent of each other and compared with surgical and pathological records. RESULTS: According to the surgical and histopathological findings 30 of 48 patients (63%) had acute appendicitis. Of the remaining 18 patients, 4 patients had no reasons for the clinical symptoms and 14...... patients had other pathology. For the three reviewers the performance of MRI in the diagnosis of acute appendicitis showed the following sensitivity, specificity and accuracy ranges: 83-93%, 50-83% and 77-83%. Moderate (kappa=0.51) and fair (kappa=0.31) interobserver agreements in the MR diagnosis of acute...

  14. [Diagnostic strategy in patients with clinically suspected deep vein thrombosis

    DEFF Research Database (Denmark)

    Mantoni, Margit Yvonne; Kristensen, M.; Brogaard, M.H.

    2008-01-01

    INTRODUCTION: The standard method for diagnosing deep vein thrombosis (DVT) involves determination of D-dimer and ultrasound scanning. In an attempt to reduce the number of ultrasound examinations we have supplemented this with a clinical probability estimate for DVT (DVT-score) over one year....... MATERIALS AND METHODS: A total of 508 consecutive patients presenting in the emergency room with suspected DVT had D-dimer and DVT-score performed. Patients with non-elevated D-dimer and a low or moderate DVT score received no treatment. The remainder had ultrasound scanning from the groin to the popliteal...... patients with normal D-dimer had high DVT-scores, none had DVT, so that the benefit from determining DVT-scores was modest. Ultrasound scanning revealed DVT in 85 out of 397 patients with elevated D-dimer. A repeat examination was performed in 91 patients with persisting symptoms, and disclosed DVT in two...

  15. Respiratory viral infections in infants with clinically suspected pertussis.

    Science.gov (United States)

    Ferronato, Angela E; Gilio, Alfredo E; Vieira, Sandra E

    2013-01-01

    to evaluate the frequency of respiratory viral infections in hospitalized infants with clinical suspicion of pertussis, and to analyze their characteristics at hospital admission and clinical outcomes. a historical cohort study was performed in a reference service for pertussis, in which the research of respiratory viruses was also a routine for infants hospitalized with respiratory problems. All infants reported as suspected cases of pertussis were included. Tests for Bordetella pertussis (BP) (polymerase chain reaction/culture) and for respiratory viruses (RVs) (immunofluorescence) were performed. Patients who received macrolides before hospitalization were excluded. Clinical data were obtained from medical records. Among the 67 patients studied, BP tests were positive in 44%, and 26% were positive for RV. There was no etiological identification in 35%, and RV combined with BP was identified in 5%. All patients had similar demographic characteristics. Cough followed by inspiratory stridor or cyanosis was a strong predictor of pertussis, as well as prominent leukocytosis and lymphocytosis. Rhinorrhea and dyspnea were more frequent in viral infections. Macrolides were discontinued in 40% of patients who tested positive for RV and negative for BP. the results suggest that viral infection can be present in hospitalized infants with clinical suspicion of pertussis, and etiological tests may enable a reduction in the use of macrolides in some cases. However, the etiological diagnosis of respiratory virus infection, by itself, does not exclude the possibility of infection with BP. Copyright © 2013 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  16. Comparison of clinically suspected injuries with injuries detected at whole-body CT in suspected multi-trauma victims

    International Nuclear Information System (INIS)

    Shannon, L.; Peachey, T.; Skipper, N.; Adiotomre, E.; Chopra, A.; Marappan, B.; Kotnis, N.

    2015-01-01

    Aim: To assess the accuracy of the trauma team leader's clinical suspicion of injury in patients who have undergone whole-body computed tomography (WBCT) for suspected polytrauma, and to assess the frequency of unsuspected injuries and specific patterns of injury at WBCT. Materials and methods: Requests for patients who underwent WBCT for suspected polytrauma from April 2011 to March 2014 were reviewed and each body area that was clinically suspected to be injured was recorded. Body areas were divided into the following groups based on anatomical regions covered in each segment of the WBCT examination: head (including facial bones); neck (including cervical spine); chest (including thoracic spine); and abdomen/pelvis (including lumbar spine). The formal radiology report for each study was reviewed and injuries found at CT were grouped into the same body areas. For each patient, the number of clinically suspected injured areas was compared to the number of confirmed injured areas at WBCT. Results: Five hundred and eighty-eight patients were included in the study. Thirty-two percent (186/588) had a normal scan. Ninety-three percent (546/588) had fewer injured body areas at WBCT than suspected. Four percent (27/588) had the equivalent number of injured areas at WBCT as suspected. Three percent (15/588) had more injured areas at WBCT than suspected. Fifty percent (263/527) with clinically suspected chest injuries were confirmed to have chest injuries at WBCT. This was lower for other areas: abdomen/pelvis 31% (165/535); head 29% (155/533); neck 13% (66/513). Four percent of (24/588) patients had unsuspected injuries found at WBCT. Seventy-five percent (18/24) of unsuspected injuries were considered as serious, where failure to treat would have the potential for significant morbidity. Most of these patients had severe injuries to other body areas that were correctly suspected. Of the 165 with abdominal/pelvic region injuries, there were associated injuries in the

  17. Congenitally missing mandibular second premolars: clinical options.

    Science.gov (United States)

    Kokich, Vincent G; Kokich, Vincent O

    2006-10-01

    Congenital absence of mandibular second premolars affects many orthodontic patients. The orthodontist must make the proper decision at the appropriate time regarding management of the edentulous space. These spaces can be closed or left open. If the space will be left open for an eventual restoration, the keys during orthodontic treatment are to create the correct amount of space and to leave the alveolar ridge in an ideal condition for a future restoration. If the space will be closed, the clinician must avoid any detrimental alterations to the occlusion and the facial profile. Some early decisions that the orthodontist makes for a patient whose mandibular second premolars are congenitally missing will affect his or her dental health for a lifetime. Therefore, the correct decision must be made at the appropriate time. In this article, we present and discuss various treatment alternatives for managing orthodontic patients with at least 1 congenitally missing mandibular second premolar.

  18. Unenhanced MR Imaging in adults with clinically suspected acute appendicitis

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    Chabanova, Elizaveta, E-mail: elcha@heh.regionh.dk [Department of Diagnostic Radiology, Copenhagen University Hospital at Herlev (Denmark); Balslev, Ingegerd, E-mail: inbal@heh.regionh.dk [Department of Pathology, Copenhagen University Hospital at Herlev (Denmark); Achiam, Michael, E-mail: micach01@heh.regionh.dk [Department of Gastrointestinal Surgery, Copenhagen University Hospital at Herlev (Denmark); Nielsen, Yousef W., E-mail: yujwni01@heh.regionh.dk [Department of Diagnostic Radiology, Copenhagen University Hospital at Herlev (Denmark); Adamsen, Sven, E-mail: svad@heh.regionh.dk [Department of Gastrointestinal Surgery, Copenhagen University Hospital at Herlev (Denmark); Gocht-Jensen, Peter, E-mail: petgoc01@heh.reginh.dk [Department of Gastrointestinal Surgery, Copenhagen University Hospital at Herlev (Denmark); Brisling, Steffen K., E-mail: stkibr01@heh.regionh.dk [Department of Gastrointestinal Surgery, Copenhagen University Hospital at Herlev (Denmark); Logager, Vibeke B., E-mail: viloe@heh.regionh.dk [Department of Diagnostic Radiology, Copenhagen University Hospital at Herlev (Denmark); Thomsen, Henrik S., E-mail: heth@heh.regionh.dk [Department of Diagnostic Radiology, Copenhagen University Hospital at Herlev (Denmark)

    2011-08-15

    Purpose: The purpose of the study was to evaluate unenhanced Magnetic Resonance Imaging (MRI) for the diagnosis of appendicitis or another surgery-requiring condition in an adult population scheduled for emergency appendectomy based on a clinical diagnosis of suspected acute appendicitis. Materials and methods: The prospective study included 48 consecutive patients (29 female, 19 male, 18-70 years old, mean age = 37.1 years). MRI examination was designed to be comfortable and fast; no contrast was administered. The sequences were performed during quiet respiration. The MRI findings were reviewed by two radiologists and one surgeon independent of each other and compared with surgical and pathological records. Results: According to the surgical and histopathological findings 30 of 48 patients (63%) had acute appendicitis. Of the remaining 18 patients, 4 patients had no reasons for the clinical symptoms and 14 patients had other pathology. For the three reviewers the performance of MRI in the diagnosis of acute appendicitis showed the following sensitivity, specificity and accuracy ranges: 83-93%, 50-83% and 77-83%. Moderate ({kappa} = 0.51) and fair ({kappa} = 0.31) interobserver agreements in the MR diagnosis of acute appendicitis were found between the reviewers. Sensitivity, specificity and accuracy values for overall performance of MRI in detecting pelvic abnormalities were 100%, 75% (3 of 4 healthy patients were identified by MRI) and 98%, respectively. Conclusion: Unenhanced fast MRI is feasible as an additional fast screening before the appendectomy. It may prevent unnecessary surgeries. The fast MRI examination can be adequately performed on an MRI unit of broad range of field strengths.

  19. Respiratory viral infections in infants with clinically suspected pertussis

    Directory of Open Access Journals (Sweden)

    Angela E. Ferronato

    2013-11-01

    Full Text Available Objective: to evaluate the frequency of respiratory viral infections in hospitalized infants with clinical suspicion of pertussis, and to analyze their characteristics at hospital admission and clinical outcomes. Methods: a historical cohort study was performed in a reference service for pertussis, in which the research of respiratory viruses was also a routine for infants hospitalized with respiratory problems. All infants reported as suspected cases of pertussis were included. Tests for Bordetella pertussis (BP (polymerase chain reaction/culture and for respiratory viruses (RVs (immunofluorescence were performed. Patients who received macrolides before hospitalization were excluded. Clinical data were obtained from medical records. Results: Among the 67 patients studied, BP tests were positive in 44%, and 26% were positive for RV. There was no etiological identification in 35%, and RV combined with BP was identified in 5%. All patients had similar demographic characteristics. Cough followed by inspiratory stridor or cyanosis was a strong predictor of pertussis, as well as prominent leukocytosis and lymphocytosis. Rhinorrhea and dyspnea were more frequent in viral infections. Macrolides were discontinued in 40% of patients who tested positive for RV and negative for BP. Conclusion: the results suggest that viral infection can be present in hospitalized infants with clinical suspicion of pertussis, and etiological tests may enable a reduction in the use of macrolides in some cases. However, the etiological diagnosis of respiratory virus infection, by itself, does not exclude the possibility of infection with BP. Resumo: Objetivo: avaliar a frequência das infecções por vírus respiratórios em lactentes hospitalizados com suspeita clínica de coqueluche e analisar suas características admissionais e evolutivas. Métodos: foi realizado um estudo de coorte histórica, em um serviço sentinela para coqueluche, no qual a pesquisa de v

  20. Respiratory viral infections in infants with clinically suspected pertussis

    Directory of Open Access Journals (Sweden)

    Angela E. Ferronato

    2013-11-01

    Conclusion: the results suggest that viral infection can be present in hospitalized infants with clinical suspicion of pertussis, and etiological tests may enable a reduction in the use of macrolides in some cases. However, the etiological diagnosis of respiratory virus infection, by itself, does not exclude the possibility of infection with BP.

  1. Congenital hydrocephalus in clinical practice : A genetic diagnostic approach

    NARCIS (Netherlands)

    Verhagen, J. M. A.; Schrander-Stumpel, C. T. R. M.; Krapels, P. C.; de Die-Smulders, C. E. M.; van Lint, F. H. M.; Willekes, C.; Weber, J. W.; Gavilanes, A. W. D.; Macville, M. V. E.; Stegmann, A. P. A.; Engelen, J. J. M.; Bakker, J.; Vos, Y. J.; Frints, S. G. M.

    2011-01-01

    Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneous. Little is known about the genetic causes of congenital hydrocephalus. A retrospective survey was performed including patients with primary congenital hydrocephalus referred to the Department of

  2. Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation.

    Science.gov (United States)

    Kopacek, Cristiane; Prado, Mayara J; da Silva, Claudia M D; de Castro, Simone M; Beltrão, Luciana A; Vargas, Paula R; Grandi, Tarciana; Rossetti, Maria L R; Spritzer, Poli Mara

    2018-04-30

    To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. A cross-sectional study was conducted. Newborns with suspected disease due to high 17-hydroxyprogesterone levels and adjusted for birth weight were selected. Classical congenital adrenal hyperplasia (salt-wasting and simple virilizing forms) was diagnosed by an increase in 17-hydroxyprogesterone levels as confirmed in the retest, clinical evaluation, and genotype determined by SNaPshot and multiplex ligation-dependent probe amplification. After 24 months, 15 classic congenital adrenal hyperplasia cases were diagnosed in a total of 217,965 newborns, with an estimated incidence of 1:14,531. From 132 patients, seven non-classical and 14 heterozygous patients were screened for CYP21A2 mutations, and 96 patients presented false positives with wild type CYP21A2. On retest, increased 17-hydroxyprogesterone levels were found in classical congenital adrenal hyperplasia patients and showed significant correlation with genotype-related classical genital adrenal hyperplasia. The most frequent mutations were IVS2-13A/C>G followed by gene deletion or rearrangement events in the classical form. In non-classical and heterozygous diseases, p.Val282Leu was the most common mutation. The results underscore the effectiveness of congenital adrenal hyperplasia neonatal screening in the public health system and indicate that the adopted strategy was appropriate. The second sample collection along with genotyping of suspected cases helped to properly diagnose both severe and milder cases and delineate them from false positive patients. Copyright © 2018. Published by Elsevier Editora Ltda.

  3. [Adult congenital heart disease--between guidelines and clinical practice].

    Science.gov (United States)

    Chessa, Massimo

    2011-01-01

    Advances in medical and surgical management of congenital heart disease have changed the prognosis of infants and children with cardiac defects, so that an increasing number of patients reach adolescence and adult life, even those with complex defects. Recent data suggest that the number of adults with congenital heart disease, either repaired or not, approaches the number of children with the disorder. A cure is rarely achieved and ongoing surveillance and management in conjunction with specialists in this highly specialized field is mandatory to provide optimal care for patients. The profile of this patient population is going to change over the next few decades. Ideally specialist units should be established in appropriate geographic locations; patients need to be concentrated for expertise, experience, and optimal management. Less specialized regional centers and outpatient clinics in districts in connection with grown-up congenital heart disease units should be created. Specialist units should accept responsibility for educating the professionals, training the specialists, and sharing particular skills between each other. Guidelines and recommendations should help physicians to make decision in their daily practice. However, the final judgment regarding the care of an individual patient must be made by his/her physician. This article will briefly discuss some aspects of these dedicated guidelines and how they influence the clinical daily practice.

  4. Clinical and diagnostic characteristics of patients with suspected polyneuropathy

    Directory of Open Access Journals (Sweden)

    Mikhailova Е.V.

    2013-09-01

    Full Text Available Objective: to study the causes and clinical manifestations of disease in children referred for hospitalization in children infectious diseases hospital in Saratov with a diagnosis of «acute flaccid paralysis». Material and methods: 157 children with the diagnosis on admission of the guide «acute flaccid paralysis». Conducted clinical examination and laboratory tests included a general analysis of cerebrospinal fluid, urine, virological examination of nasal swabs and faeces, with the definition of a serological ELISA method and RPHA immunoglobulins to influenza, rubella, and enterovirus, immunological study of blood, cerebrospinal fluid PCR, electromyography of the affected limbs. Results. 77 patients (49% with the disease associated with the violation of the musculoskeletal system were registered. In the other cases revealed polyneuropathy was not of poliovirus etiology. Etiological nature of the disease could be explained by 54% of patients. In 37 (46% patients the diagnosis was formulated in accordance with the severity of paralysis. One child was diagnosed with a vaccine-associated poliomyelitis. Conclusion. The diagnosis of «acute flaccid paralysis» used as administered requires a detailed interpretation in a hospital.

  5. Clinical, chromosomal and endocrine studies for congenital adrenal hyperplasia

    International Nuclear Information System (INIS)

    Soliman, S.E.; Shousha, M.; Hafez, M.

    2006-01-01

    Severe forms of congenital adrenal hyperplasia are potentially fatal if unrecognized and untreated. The aim of this study was to clarify the clinical presentation together with the chromosomal and laboratory associations in this syndrome. Twenty four patients diagnosed as congenital adrenal hyperplasia were referred from Children's Hospital, Cairo University, Egypt, for hormonal and chromosomal workup. The age ranged from eight months to 19 years with mean age of 3.18 years. Twenty two patients were diagnosed as classic congenital adrenal hyperplasia (CAH) syndrome. Severe salt wasting form was present in ten patients whereas simple virilisation was the presenting manifestation in twelve patients. Two patients presented as late onset congenital adrenal hyperplasia (LOCAH). The sex of rearing was female in 18 cases and male in six cases. Genitography and sonography confirmed the presence of female internal organs in all cases. Advanced bone age was evident by radiographic studies. Although the karyotyping was 46,XX in all cases, the diagnosed correct sex was delayed in six cases. Serum concentrations of 17-hydroxyprogesterone (17.OH.P), dehydroepiandrosterone sulfate (DHEAS), delta, 4-androstenedione (D4A), testosterone (T) and 11-deoxycortisol were all elevated as compared to controls. It was found that the adrenal androgens DHEAS, D4A and T were more elevated in salt losers when compared to simple virilising patients. However, this difference was statistically non-significant. The present study demonstrates that the clinical examination and laboratory investigations are necessary for the early detection and treatment of these cases to avoid major medical and psychological problems for the patients and their parents

  6. Clinical, Chromosomal and Endocrine Studies for Congenital Adrenal Hyperplasia

    International Nuclear Information System (INIS)

    Shousha, M.A.; Somaya, E.T.; Attia, M.

    2007-01-01

    Several forms of congenital adrenal hyperplasia are potentially fatal if unrecognized and untreated. The aim of this study is to throw light on the clinical presentation together with chromosomal and laboratory associations in this syndrome. Twenty four patients diagnosed as congenital adrenal hyperplasia were referred from the Diabetic Endocrine Metabolic Pediatric Unit [DEMPU], Children's Hospital, Cairo University for hormonal and chromosomal workup. Twenty two patients were diagnosed as classic congenital adrenal hyperplasia (CAH) syndrome. Sever salt wasting form was present in ten patients whereas simple virilization was the presenting manifestation in twelve patients. Two patients presented as late onset congenital adrenal hyperplasia (LOCAH). The mean age was 3.18 years, ranging from eight months to 19 years. The sex of rearing was Female in 18 cases and male in six cases. Genitography and sonography confirmed the presence of female internal organs in all cases. Advanced bone age was evident by radiographic studies. Although the karyotyping was (46,XX) in all cases, the correct sex diagnosis was delayed in 6 cases. Serum concentrations of 17-hydroxyprogesterone (17.OH.P); Dehydroepiandrosterone sulfate (DHEAS); Delta,4-androstenedione (D 4 A); Testosterone and 11-deoxycortisol were all elevated in relation to controls. We found that the adrenal androgens DHEAS, delta 4A, and T were more elevated in salt losers when compared to simple virilizing patients. However, this difference was not of statistical significance. The present study demonstrates that clinical examination and laboratory investigations are necessary for early detection and treatment of hese cases to avoid major medical and psychological problems for the patients and their parents.

  7. Unilateral Congenital Cataract: Clinical Profile and Presentation.

    Science.gov (United States)

    Khokhar, Sudarshan; Jose, Cijin P; Sihota, Ramanjit; Midha, Neha

    2018-03-01

    To study the clinical profile and presentation of children with unilateral cataract. In this hospital-based, observational, cross-sectional study, patients 15 years of age or younger who presented with unilateral cataract were recruited. Cases of cataract secondary to causes such as trauma or uveitis were excluded. Age at detection and presentation, distance from the treatment center, presenting complaints, cataract morphology, and biometry were noted for each case. A total of 76 patients were recruited. Most patients presented with complaints of leukocoria. Persistent fetal vasculature accounted for 27.6% of cases and was the most common identifiable cause of cataract in this study. Subsequently, patients were divided into two groups: no persistent fetal vasculature (control) and persistent fetal vasculature. A male predominance was noted in both groups. The mean age at detection was 27.58 ± 37.02 and 6.17 ± 8.42 months and the mean age at presentation was 55.613 ± 45.21 and 14.83 ± 17.75 months in the control and persistent fetal vasculature groups, respectively. In the persistent fetal vasculature group, a significant difference was noted in the axial length, keratometry, and corneal diameter between the affected and normal eyes (P = .027, .00176, and .0114, respectively). In the control group, this difference was observed only in keratometry readings (P = .0464). The mean distance traveled by patients to reach the treatment center was 211 km. Persistent fetal vasculature is an important and less identified cause of unilateral cataract. A significant delay is noted in the detection and presentation of unilateral cataract. [J Pediatr Ophthalmol Strabismus. 2018;55(2):107-112.]. Copyright 2017, SLACK Incorporated.

  8. Unexpected MRI findings in clinically suspected Legg-Calve-Perthes disease

    Energy Technology Data Exchange (ETDEWEB)

    Lobert, Philip F.; Dillman, Jonathan R.; Strouse, Peter J.; Hernandez, Ramiro J. [University of Michigan Health System, Department of Radiology, Section of Pediatric Radiology, C.S. Mott Children' s Hospital/F3503, Ann Arbor, MI (United States)

    2011-03-15

    In the setting of clinically suspected Legg-Calve-Perthes (LCP) disease and negative/equivocal radiographs, contrast-enhanced MRI can be performed to confirm the diagnosis. To determine the frequency of unexpected causes of hip pain as identified by MRI in children with clinically suspected LCP disease and negative/equivocal radiographs. All pediatric contrast-enhanced MRI examinations of the pelvis and hips performed between January 2000 and February 2009 to evaluate for possible LCP disease in the setting of negative/equivocal radiographs were identified. MRI examinations performed to evaluate for secondary avascular necrosis were excluded. Imaging reports were retrospectively reviewed for unexpected clinically important causes of hip pain. Thirty-six pediatric patients underwent contrast-enhanced MRI examinations for clinically suspected LCP disease in the setting of negative/equivocal radiographs. Twenty-two (61%) imaging studies were normal, while four (11%) imaging studies demonstrated findings consistent with LCP disease. Ten (28%) imaging studies revealed unexpected clinically important causes of hip pain, including nonspecific unilateral joint effusion and synovitis (n = 7, juvenile chronic arthritis was eventually diagnosed in 3 patients), sacral fracture (n = 1), apophyseal injury (n = 1), and femoral head subluxation (n = 1). MRI frequently reveals unexpected clinically important causes of hip pain in children with suspected LCP disease and negative/equivocal radiographs. (orig.)

  9. 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. 

  10. Economic evaluation of a clinical protocol for diagnosing emergency patients with suspected pulmonary embolism

    Directory of Open Access Journals (Sweden)

    Wolfe Rory

    2006-06-01

    Full Text Available Abstract Background The objective of this paper is to estimate the amount of cost-savings to the Australian health care system from implementing an evidence-based clinical protocol for diagnosing emergency patients with suspected pulmonary embolism (PE at the Emergency department of a Victorian public hospital with 50,000 presentations in 2001–2002. Methods A cost-minimisation study used the data collected in a controlled clinical trial of a clinical protocol for diagnosing patients with suspected PE. Thenumber and type of diagnostic tests in a historic cohort of 185 randomly selected patients, who presented to the emergency department with suspectedPE during an eight month period prior to the clinical trial (January 2002 -August 2002 were compared with the number and type of diagnostic tests in745 patients, who presented to the emergency department with suspected PE from November 2002 to August 2003. Current Medicare fees per test were usedas unit costs to calculate the mean aggregated cost of diagnostic investigation per patient in both study groups. A t-test was used to estimate the statistical significance of the difference in the cost of resources used for diagnosing PE in the control and in the intervention group. Results The trial demonstrated that diagnosing PE using an evidence-based clinical protocol was as effective as the existing clinical practice. The clinical protocol offers the advantage of reducing the use of diagnostic imaging, resulting in an average cost savings of at least $59.30 per patient. Conclusion Extrapolating the observed cost-savings of $59.30 per patient to the wholeof Australia could potentially result in annual savings between $3.1 million to $3.7 million.

  11. The clinical and radiological observation of congenital syphilis

    International Nuclear Information System (INIS)

    Nah, Byung Sik; Chung, Ung Ki

    1983-01-01

    Congenital syphilis is transmitted through the placenta by the infected mother after 16 weeks of gestation. Since the incidence of syphilis is again on the increase, syphilis remains at the present time a public problem of major and increasing proportions. Recently, congenital syphilis has different formas of presentation. The authors observed clinically and radiologically 27 cases of congenital syphilis in the neonates and infants treated at the pediatric ward of Chonnam National University Hospital from Jan. 1977 to Mar. 1982. The results are as follows: 1. The number of observed patients was 27 cases, 22 cases in male, 5 cases in female. 2. Onset of first clinical symptoms and signs was within the 4th week life in 14 cases (52%), 1-2 months in 6 cases (22%), 2-3 months in 4 cases (15%), 3-4 months in 3 cases (11%). All cases was within 6 months. 3. The order of the frequency of common clinical manifestations was hepatomegaly (96%), splenomegaly (78%), skin lesion (63%), anemia (63%), nasal snuffle (56%). 4. Of 11 cases with known birth weight, 10 cases were low birth weight. 5. The serologic test (VDRL slide test) of 27 tested caes revealed reactive response in 26 cases, non-reactive response in 1 case, and that of syphilitic mothers except one revealed reactive in 23 cases, non- reactive in 3 cases. 6. Roentgenographic syphilitic bony changes were detected in 26 cases (96%), of 27 studied cases, osteochondritis was present in 24 cases (89%), periostitis in 21 case (78%), osteomyelitis in 11 cases (41%). 7. The most common sites affected were as follows. Radius and ulna were the most frequently affected, the next were in order of tibia and fibula. Considering osteochondiritis only, the distal end of radius and ulna (78% respectively) and proximal end of tibra (67%) were the most frequently affected sites, the proximal end of femur (33%) was least frequently affected site. 8. On chest films of 27 case, osseous changes (mainly periostitis) of clavicle were noted

  12. Clinical Characteristics, Management, and Outcomes of Suspected Poststroke Acute Coronary Syndrome

    OpenAIRE

    Biso, Sylvia Marie; Lu, Marvin; De Venecia, Toni Anne; Wongrakpanich, Supakanya; Rodriguez-Ziccardi, Mary; Yadlapati, Sujani; Kishlyansky, Marina; Rammohan, Harish Seetha; Figueredo, Vincent M.

    2017-01-01

    Background Acute coronary syndrome (ACS) can complicate acute ischemic stroke, causing significant morbidity and mortality. To date, literatures that describe poststroke acute coronary syndrome and its morbidity and mortality burden are lacking. Methods This is a single center, retrospective study where clinical characteristics, cardiac evaluation, and management of patients with suspected poststroke ACS were compared and analyzed for their association with inpatient mortality and 1-year all-...

  13. Abnormal Congenital Location of Stapes’ Superstructure: Clinical and Embryological Implications

    Directory of Open Access Journals (Sweden)

    Vânia Henriques

    2016-01-01

    Full Text Available Congenital middle ear malformations are rare. Most part of them are usually associated with other malformations, such as aural atresia, microtia, and dysmorphic craniofacial features. A clinical case of a 24-year-old male with a right-sided conductive hearing loss since his childhood, without craniofacial malformation, is presented. He was proposed for exploratory tympanotomy under the suspicious diagnosis of otosclerosis. The surgery revealed an abnormal location of stapes’ superstructure, which was attached to the promontory and had an isolated and mobile osseous footplate in the oval window. A stapes prosthesis was inserted and resulted in closure of the air-bone gap by 25 dB. A review of the literature was also performed using MEDLINE. Two theories diverge on the embryologic origin of the stapes. Our findings seem to be in favour of the theory that defines two different embryologic origins to the stapes.

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

    International Nuclear Information System (INIS)

    Sizemore, Alecia W.; Rabbani, Kaneez Z.; Ladd, Alan; Applegate, Kimberly E.

    2008-01-01

    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. 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.)

  16. The occurrence and suspected mode of inheritance of congenital subaortic stenosis and tricuspid valve dysplasia in Dogue de Bordeaux dogs.

    Science.gov (United States)

    Ohad, D G; Avrahami, A; Waner, T; David, L

    2013-08-01

    The Dogue de Bordeaux (DdB) breed has gone through several genetic 'bottle necks' and has a relatively small effective population size. Importing new stock into Israel has been limited, further narrowing the already restricted local gene-pool and increasing the chances of inherited defects. In 56 DdB dogs examined between 2003 and 2010, the authors sought to study the proportion congenital subaortic stenosis (SAS) and tricuspid valve dysplasia (TVD). The aim was also to identify a probable mode of inheritance (MOI) using segregation and pedigree analyses of genealogical data available from 13/21 DdB dogs diagnosed with these conditions between 2004 and 2007. Among all breeds in the country, TVD was highest in the DdB breed, which also displayed the second highest proportion of SAS. Echocardiographic measurements and selected physical examination findings from 26 normal DdB dogs, 18 DdB dogs with SAS, and 12 DdB dogs with TVD are reported. Based on pedigree and segregation analyses, the most probable MOI appeared to be autosomal recessive. Pedigree analyses helped to identify three ancestors that might have introduced these two congenital heart defects into the local DdB population. Excluding those three dogs and their progeny from future mating could therefore reduce the prevalence of these diseases in the DdB population in Israel. The unusual local breeding circumstances may offer a unique opportunity to identify associated SAS and TVD genes in the DdB, as well as in other dog breeds. Copyright © 2013 Elsevier Ltd. All rights reserved.

  17. Genetic testing in congenital heart disease:A clinical approach

    Institute of Scientific and Technical Information of China (English)

    Marie A Chaix; Gregor Andelfinger; Paul Khairy

    2016-01-01

    Congenital heart disease(CHD) is the most common type of birth defect. Traditionally, a polygenic model defined by the interaction of multiple genes and environmental factors was hypothesized to account for different forms of CHD. It is now understood that the contribution of genetics to CHD extends beyond a single unified paradigm. For example, monogenic models and chromosomal abnormalities have been associated with various syndromic and non-syndromic forms of CHD. In such instances, genetic investigation and testing may potentially play an important role in clinical care. A family tree with a detailed phenotypic description serves as the initial screening tool to identify potentially inherited defects and to guide further genetic investigation. The selection of a genetic test is contingent upon the particular diagnostic hypothesis generated by clinical examination. Genetic investigation in CHD may carry the potential to improve prognosis by yielding valuable information with regards to personalized medical care, confidence in the clinical diagnosis, and/or targeted patient followup. Moreover, genetic assessment may serve as a tool to predict recurrence risk, define the pattern of inheritance within a family, and evaluate the need for further family screening. In some circumstances, prenatal or preimplantation genetic screening could identify fetuses or embryos at high risk for CHD. Although genetics may appear to constitute a highly specialized sector of cardiology, basic knowledge regarding inheritance patterns, recurrence risks, and available screening and diagnostic tools, including their strengths and limitations, could assist the treating physician in providing sound counsel.

  18. Genetic testing in congenital heart disease: A clinical approach

    Science.gov (United States)

    Chaix, Marie A; Andelfinger, Gregor; Khairy, Paul

    2016-01-01

    Congenital heart disease (CHD) is the most common type of birth defect. Traditionally, a polygenic model defined by the interaction of multiple genes and environmental factors was hypothesized to account for different forms of CHD. It is now understood that the contribution of genetics to CHD extends beyond a single unified paradigm. For example, monogenic models and chromosomal abnormalities have been associated with various syndromic and non-syndromic forms of CHD. In such instances, genetic investigation and testing may potentially play an important role in clinical care. A family tree with a detailed phenotypic description serves as the initial screening tool to identify potentially inherited defects and to guide further genetic investigation. The selection of a genetic test is contingent upon the particular diagnostic hypothesis generated by clinical examination. Genetic investigation in CHD may carry the potential to improve prognosis by yielding valuable information with regards to personalized medical care, confidence in the clinical diagnosis, and/or targeted patient follow-up. Moreover, genetic assessment may serve as a tool to predict recurrence risk, define the pattern of inheritance within a family, and evaluate the need for further family screening. In some circumstances, prenatal or preimplantation genetic screening could identify fetuses or embryos at high risk for CHD. Although genetics may appear to constitute a highly specialized sector of cardiology, basic knowledge regarding inheritance patterns, recurrence risks, and available screening and diagnostic tools, including their strengths and limitations, could assist the treating physician in providing sound counsel. PMID:26981213

  19. Diagnostic efficacy and therapeutic impact of computed tomography in the evaluation of clinically suspected otosclerosis

    International Nuclear Information System (INIS)

    Dudau, Cristina; Salim, Fakhruddin; Jiang, Dan; Connor, Steve E.J.

    2017-01-01

    To assess the diagnostic efficacy and therapeutic impact of CT in evaluating patients with clinically suspected otosclerosis. CT scans performed over a 5-year period for clinically suspected otosclerosis were retrospectively reviewed. CT diagnoses were correlated with subsequent surgical management. For otosclerosis positive cases, clinically significant extensions of otosclerosis were correlated with audiometry and the diagnosis was correlated with surgical findings. Of 259 CT studies, 46 % of patients were positive, 49 % negative and 5 % equivocal for otosclerosis. A relevant alternative CT diagnosis was evident in 33 % of the negative studies. One targeted surgery was performed for every four CT studies. CT outcome influenced the decision to perform stapedectomy in 41 % CT-positive versus 4 % CT-negative patients. CT-positive ears for otosclerosis could not be predicted from baseline clinical or audiometric criteria. Those with endosteal extension demonstrated lower bone conduction thresholds presurgically. The positive predictive value of CT diagnosis of otosclerosis was 100 %. CT demonstrated a high rate of clinically relevant diagnoses in both CT-positive and -negative for otosclerosis patients, and this frequently influenced surgical management. CT also added value by demonstrating relevant extensions of the otosclerotic foci, some of which were predictive of audiometric parameters. (orig.)

  20. Diagnostic efficacy and therapeutic impact of computed tomography in the evaluation of clinically suspected otosclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Dudau, Cristina [King' s College Hospital NHS Foundation Trust, Department of Neuroradiology, London (United Kingdom); Salim, Fakhruddin; Jiang, Dan [Department of Otolaryngology, Head and Neck Surgery, Auditory Implantation Centre, London (United Kingdom); Connor, Steve E.J. [Department of Radiology, Guy' s and St Thomas' NHS Foundation Trust, London (United Kingdom)

    2017-03-15

    To assess the diagnostic efficacy and therapeutic impact of CT in evaluating patients with clinically suspected otosclerosis. CT scans performed over a 5-year period for clinically suspected otosclerosis were retrospectively reviewed. CT diagnoses were correlated with subsequent surgical management. For otosclerosis positive cases, clinically significant extensions of otosclerosis were correlated with audiometry and the diagnosis was correlated with surgical findings. Of 259 CT studies, 46 % of patients were positive, 49 % negative and 5 % equivocal for otosclerosis. A relevant alternative CT diagnosis was evident in 33 % of the negative studies. One targeted surgery was performed for every four CT studies. CT outcome influenced the decision to perform stapedectomy in 41 % CT-positive versus 4 % CT-negative patients. CT-positive ears for otosclerosis could not be predicted from baseline clinical or audiometric criteria. Those with endosteal extension demonstrated lower bone conduction thresholds presurgically. The positive predictive value of CT diagnosis of otosclerosis was 100 %. CT demonstrated a high rate of clinically relevant diagnoses in both CT-positive and -negative for otosclerosis patients, and this frequently influenced surgical management. CT also added value by demonstrating relevant extensions of the otosclerotic foci, some of which were predictive of audiometric parameters. (orig.)

  1. Genetics of Congenital Heart Malformations: Clinical and Molecular Studies

    NARCIS (Netherlands)

    M.W. Wessels (Marja)

    2009-01-01

    markdownabstract__Abstract__ Congenital heart malformations (CHM) are among the most common congenital defects, occurring in 8 out of 1000 live-births. In the past decade significant progress has been made in the identification of genes implicated in the signaling pathways involved in

  2. Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

    Directory of Open Access Journals (Sweden)

    Joshua J. Todd

    2018-03-01

    Full Text Available The ryanodine receptor 1-related congenital myopathies (RYR1-RM comprise a spectrum of slow, rare neuromuscular diseases. Affected individuals present with a mild-to-severe symptomatology ranging from proximal muscle weakness, hypotonia and joint contractures to scoliosis, ophthalmoplegia, and respiratory involvement. Although there is currently no FDA-approved treatment for RYR1-RM, our group recently conducted the first clinical trial in this patient population (NCT02362425. This study aimed to characterize novel RYR1 variants with regard to genetic, laboratory, muscle magnetic resonance imaging (MRI, and clinical findings. Genetic and histopathology reports were obtained from participant’s medical records. Alamut Visual Software was used to determine if participant’s variants had been previously reported and to assess predicted pathogenicity. Physical exams, pulmonary function tests, T1-weighted muscle MRI scans, and blood measures were completed during the abovementioned clinical trial. Six novel variants (two de novo, three dominant, and one recessive were identified in individuals with RYR1-RM. Consistent with established RYR1-RM histopathology, cores were observed in all biopsies, except Case 6 who exhibited fiber-type disproportion. Muscle atrophy and impaired mobility with Trendelenburg gait were the most common clinical symptoms and were identified in all cases. Muscle MRI revealed substantial inter-individual variation in fatty infiltration corroborating the heterogeneity of the disease. Two individuals with dominant RYR1 variants exhibited respiratory insufficiency: a clinical symptom more commonly associated with recessive RYR1-RM cases. This study demonstrates that a genetics-led approach is suitable for the diagnosis of suspected RYR1-RM which can be corroborated through histopathology, muscle MRI and clinical examination.

  3. Rational clinical evaluation of suspected acute coronary syndromes: The value of more information.

    Science.gov (United States)

    Hancock, David G; Chuang, Ming-Yu Anthony; Bystrom, Rebecca; Halabi, Amera; Jones, Rachel; Horsfall, Matthew; Cullen, Louise; Parsonage, William A; Chew, Derek P

    2017-12-01

    Many meta-analyses have provided synthesised likelihood ratio data to aid clinical decision-making. However, much less has been published on how to safely combine clinical information in practice. We aimed to explore the benefits and risks of pooling clinical information during the ED assessment of suspected acute coronary syndrome. Clinical information on 1776 patients was collected within a randomised trial conducted across five South Australian EDs between July 2011 and March 2013. Bayes theorem was used to calculate patient-specific post-test probabilities using age- and gender-specific pre-test probabilities and likelihood ratios corresponding to the presence or absence of 18 clinical factors. Model performance was assessed as the presence of adverse cardiac outcomes among patients theoretically discharged at a post-test probability less than 1%. Bayes theorem-based models containing high-sensitivity troponin T (hs-troponin) outperformed models excluding hs-troponin, as well as models utilising TIMI and GRACE scores. In models containing hs-troponin, a plateau in improving discharge safety was observed after the inclusion of four clinical factors. Models with fewer clinical factors better approximated the true event rate, tended to be safer and resulted in a smaller standard deviation in post-test probability estimates. We showed that there is a definable point where additional information becomes uninformative and may actually lead to less certainty. This evidence supports the concept that clinical decision-making in the assessment of suspected acute coronary syndrome should be focused on obtaining the least amount of information that provides the highest benefit for informing the decisions of admission or discharge. © 2017 Australasian College for Emergency Medicine and Australasian Society for Emergency Medicine.

  4. ANAMNESIS AND CLINIC FINDINGS OF THE PATIENTS SUSPECTED OF HAVING ECTOPIC PREGNANCY

    Directory of Open Access Journals (Sweden)

    Stanoje Pesic

    2000-09-01

    Full Text Available An analysis has been done of a series of 573 patients suffering from extrauterinepregnancy, namely those found suspect upon entering the hospital. Thediagnosis of extra-uterine pregnancy was confirmed in 322 (56% patients. Theleading symptom of extra-uterine pregnancy is metrorrhagia (63,41%. As for theoperation time, 3 1% of them were immediately operated. The ultrasound techniqueadds to the diagnostic certainty. Our results show that carefully taken anamnesis inaddition to symptom recording and a careful clinic examination can make possiblethe extra-uterine pregnancy diagnosis.

  5. Impact on Clinical Management of After-Hours Emergent or Urgent Breast Ultrasonography in Patients with Clinically Suspected Breast Abscesses

    Science.gov (United States)

    Moseley, Tanya W.; Stanley, Ashley; Wei, Wei; Parikh, Jay R.

    2018-01-01

    Newly diagnosed breast abscesses are generally treated as a medical emergency that may necessitate immediate interventional treatment. At our institution, there is no in-house after-hours coverage for breast ultrasonography. We could find no peer-reviewed studies on the cost-effectiveness or clinical management impact of on-call ultrasound technologist coverage for imaging of breast abscesses. The purposes of this study were to determine the incidence of breast abscess in patients with clinical findings highly suggestive of abscess, identify clinical factors associated with breast abscess in such patients, and determine the impact of after-hours emergent or urgent breast ultrasonography on the clinical management of breast abscesses in both outpatients and inpatients. We retrospectively reviewed 100 after-hours breast ultrasound studies performed at our tertiary care center from 2011 to 2015 for evaluation of a suspected breast abscess. Only 26% of our patients with clinically suspected abscess ultimately had a confirmed abscess. Factors associated with breast abscess were a palpable abnormality and a history of breast surgery within the eight weeks before presentation. After-hours diagnosis of an abscess was associated with after-hours clinical intervention. Of the 74 patients in whom after-hours ultrasound imaging showed no evidence of abscess, only three patients underwent after-hours drainage. Our findings support overnight and weekend breast ultrasound coverage in large tertiary care centers. PMID:29473859

  6. Impact on Clinical Management of After-Hours Emergent or Urgent Breast Ultrasonography in Patients with Clinically Suspected Breast Abscesses.

    Science.gov (United States)

    Moseley, Tanya W; Stanley, Ashley; Wei, Wei; Parikh, Jay R

    2018-02-23

    Newly diagnosed breast abscesses are generally treated as a medical emergency that may necessitate immediate interventional treatment. At our institution, there is no in-house after-hours coverage for breast ultrasonography. We could find no peer-reviewed studies on the cost-effectiveness or clinical management impact of on-call ultrasound technologist coverage for imaging of breast abscesses. The purposes of this study were to determine the incidence of breast abscess in patients with clinical findings highly suggestive of abscess, identify clinical factors associated with breast abscess in such patients, and determine the impact of after-hours emergent or urgent breast ultrasonography on the clinical management of breast abscesses in both outpatients and inpatients. We retrospectively reviewed 100 after-hours breast ultrasound studies performed at our tertiary care center from 2011 to 2015 for evaluation of a suspected breast abscess. Only 26% of our patients with clinically suspected abscess ultimately had a confirmed abscess. Factors associated with breast abscess were a palpable abnormality and a history of breast surgery within the eight weeks before presentation. After-hours diagnosis of an abscess was associated with after-hours clinical intervention. Of the 74 patients in whom after-hours ultrasound imaging showed no evidence of abscess, only three patients underwent after-hours drainage. Our findings support overnight and weekend breast ultrasound coverage in large tertiary care centers.

  7. Impact on Clinical Management of After-Hours Emergent or Urgent Breast Ultrasonography in Patients with Clinically Suspected Breast Abscesses

    Directory of Open Access Journals (Sweden)

    Tanya W. Moseley

    2018-02-01

    Full Text Available Newly diagnosed breast abscesses are generally treated as a medical emergency that may necessitate immediate interventional treatment. At our institution, there is no in-house after-hours coverage for breast ultrasonography. We could find no peer-reviewed studies on the cost-effectiveness or clinical management impact of on-call ultrasound technologist coverage for imaging of breast abscesses. The purposes of this study were to determine the incidence of breast abscess in patients with clinical findings highly suggestive of abscess, identify clinical factors associated with breast abscess in such patients, and determine the impact of after-hours emergent or urgent breast ultrasonography on the clinical management of breast abscesses in both outpatients and inpatients. We retrospectively reviewed 100 after-hours breast ultrasound studies performed at our tertiary care center from 2011 to 2015 for evaluation of a suspected breast abscess. Only 26% of our patients with clinically suspected abscess ultimately had a confirmed abscess. Factors associated with breast abscess were a palpable abnormality and a history of breast surgery within the eight weeks before presentation. After-hours diagnosis of an abscess was associated with after-hours clinical intervention. Of the 74 patients in whom after-hours ultrasound imaging showed no evidence of abscess, only three patients underwent after-hours drainage. Our findings support overnight and weekend breast ultrasound coverage in large tertiary care centers.

  8. Bacterial colonization of the ovarian bursa in dogs with clinically suspected pyometra and in controls.

    Science.gov (United States)

    Rubio, Alejandro; Boyen, Filip; Tas, Olaf; Kitshoff, Adriaan; Polis, Ingeborgh; Van Goethem, Bart; de Rooster, Hilde

    2014-10-15

    Septic peritonitis occurs relatively commonly in dogs. Secondary septic peritonitis is usually associated with perforation of intestines or infected viscera, such as the uterus in pyometra cases. The aim of this study was to evaluate the bacterial flora in the ovarian bursae of intact bitches as a potential source of contamination. One hundred forty dogs, clinically suspected of pyometra, were prospectively enrolled. The control group consisted of 26 dogs that underwent elective ovariohysterectomies and 18 dogs with mammary gland tumors that were neutered at the time of mastectomy. Bacteriology samples were taken aseptically at the time of surgery from the bursae and the uterus in all dogs. Twenty-two dogs that were clinically suspected of pyometra had sterile uterine content ("mucometra" cases); the remaining 118 had positive uterine cultures ("pyometra" cases) and septic peritoneal fluid was present in 10% of these cases. Of the 118 pyometra cases, 9 had unilateral and 15 had bilateral bacterial colonization of their ovarian bursae. However, the bacteria from the ovarian bursa were similar to those recovered from the uterine pus in only half of the cases. Furthermore, positive bursae were also seen in one mucometra dog (unilateral) and in four control dogs (two unilateral and two bilateral). The data illustrate that the canine ovarian bursa can harbor bacteria. The biological importance of these isolations remains unclear. Copyright © 2014 Elsevier Inc. All rights reserved.

  9. Clinical Characteristics, Management, and Outcomes of Suspected Poststroke Acute Coronary Syndrome

    Directory of Open Access Journals (Sweden)

    Sylvia Marie Biso

    2017-01-01

    Full Text Available Background. Acute coronary syndrome (ACS can complicate acute ischemic stroke, causing significant morbidity and mortality. To date, literatures that describe poststroke acute coronary syndrome and its morbidity and mortality burden are lacking. Methods. This is a single center, retrospective study where clinical characteristics, cardiac evaluation, and management of patients with suspected poststroke ACS were compared and analyzed for their association with inpatient mortality and 1-year all-cause mortality. Results. Of the 82 patients, 32% had chest pain and 88% had ischemic ECG changes; mean peak troponin level was 18, and mean ejection fraction was 40%. The medical management group had older individuals (73 versus 67 years, p<0.05, lower mean peak troponin levels (12 versus 49, p<0.05, and lower mean length of stay (12 versus 25 days, p<0.05 compared to those who underwent stent or CABG. Troponin levels were significantly associated with 1-year all-cause mortality. Conclusion. Age and troponin level appear to play a role in the current clinical decision making for patient with suspected poststroke ACS. Troponin level appears to significantly correlate with 1-year all-cause mortality. In the management of poststroke acute coronary syndrome, optimal medical therapy had similar inpatient and all-cause mortality compared to PCI and/or CABG.

  10. Clinical Characteristics, Management, and Outcomes of Suspected Poststroke Acute Coronary Syndrome

    Science.gov (United States)

    De Venecia, Toni Anne; Wongrakpanich, Supakanya; Rodriguez-Ziccardi, Mary; Yadlapati, Sujani; Kishlyansky, Marina; Rammohan, Harish Seetha; Figueredo, Vincent M.

    2017-01-01

    Background Acute coronary syndrome (ACS) can complicate acute ischemic stroke, causing significant morbidity and mortality. To date, literatures that describe poststroke acute coronary syndrome and its morbidity and mortality burden are lacking. Methods This is a single center, retrospective study where clinical characteristics, cardiac evaluation, and management of patients with suspected poststroke ACS were compared and analyzed for their association with inpatient mortality and 1-year all-cause mortality. Results Of the 82 patients, 32% had chest pain and 88% had ischemic ECG changes; mean peak troponin level was 18, and mean ejection fraction was 40%. The medical management group had older individuals (73 versus 67 years, p < 0.05), lower mean peak troponin levels (12 versus 49, p < 0.05), and lower mean length of stay (12 versus 25 days, p < 0.05) compared to those who underwent stent or CABG. Troponin levels were significantly associated with 1-year all-cause mortality. Conclusion Age and troponin level appear to play a role in the current clinical decision making for patient with suspected poststroke ACS. Troponin level appears to significantly correlate with 1-year all-cause mortality. In the management of poststroke acute coronary syndrome, optimal medical therapy had similar inpatient and all-cause mortality compared to PCI and/or CABG. PMID:29130017

  11. Coronary artery anomalies and clinically important anatomy in patients with congenital heart disease: multislice CT findings

    International Nuclear Information System (INIS)

    Goo, Hyun Woo; Seo, Dong-Man; Yun, Tae-Jin; Park, Jeong-Jun; Park, In-Sook; Ko, Jae Kon; Kim, Young Hwee

    2009-01-01

    In patients with congenital heart disease, coronary artery anomalies are common and have different clinical importance from individuals with structurally normal hearts. Visibility of the coronary arteries by CT has markedly improved due to high temporal resolution and ECG-synchronized data acquisition. In this article we describe current multislice CT techniques for coronary artery imaging and illustrate coronary artery anomalies and clinically important coronary artery anatomy from the point of view of congenital heart disease. (orig.)

  12. Coronary artery anomalies and clinically important anatomy in patients with congenital heart disease: multislice CT findings

    Energy Technology Data Exchange (ETDEWEB)

    Goo, Hyun Woo [University of Ulsan College of Medicine, Department of Radiology and Research Institute of Radiology, Asan Medical Center, Seoul (Korea); Seo, Dong-Man; Yun, Tae-Jin; Park, Jeong-Jun [University of Ulsan College of Medicine, Department of Pediatric Cardiac Surgery, Asan Medical Center, Seoul (Korea); Park, In-Sook; Ko, Jae Kon; Kim, Young Hwee [University of Ulsan College of Medicine, Department of Pediatric Cardiology, Asan Medical Center, Seoul (Korea)

    2009-03-15

    In patients with congenital heart disease, coronary artery anomalies are common and have different clinical importance from individuals with structurally normal hearts. Visibility of the coronary arteries by CT has markedly improved due to high temporal resolution and ECG-synchronized data acquisition. In this article we describe current multislice CT techniques for coronary artery imaging and illustrate coronary artery anomalies and clinically important coronary artery anatomy from the point of view of congenital heart disease. (orig.)

  13. [Clinical and anatomical features of congenital microphthalmia and anophthalmia in children and conservative methods of rehabilitation].

    Science.gov (United States)

    Sudovskaya, T V; Filatova, I A; Kiseleva, T N; Bobrovskaya, Yu A; Kokoeva, N Sh

    2016-01-01

    To develop a comprehensive classification system of distinctive clinical and anatomical features of congenital microphthalmia and anophthalmia in children and to specify indications, contraindications, and optimal timing of the primary and subsequent prosthetic treatment. A total of 70 patients with congenital micro- or anophthalmia aged from 1 month to 12 years were examined. Besides the routine ophthalmic examination, all patients underwent eye and orbit ultrasound (axial length measurement and B-scan), computed tomography of the orbits and skull, and immunological tests for infectious diseases (enzyme-linked immunosorbent assays). Basing on the examination we have determined the common types of congenital micro- and anophthalmia in children. We have also developed a stepwise prosthetic treatment aimed at better cosmetic rehabilitation. Indications and contraindications for the use of ocular prostheses in children with congenital micro- and anophthalmia have been identified. The proposed method of stepwise prosthetics is the principal option for conservative rehabilitation of children with congenital micro- or anophthalmia.

  14. PATIENTS WITH SUSPECTED METAL IMPLANT ALLERGY: POTENTIAL CLINICAL PICTURES AND ALLERGOLOGICAL DIAGNOSTIC APPROACH (REVIEW

    Directory of Open Access Journals (Sweden)

    P. Thomas

    2014-01-01

    Full Text Available The focus of this review are allergic complications following insertion of metallic orthopedic implants. Such potential allergic reactions encompass eczema, impaired wound and fracture healing, infection-mimicking reactions, effusions, pain and loosening. Nickel, cobalt and chromium seem to be the predominant eliciting allergens. Allergy might be considered prior to planned orthopaedic surgery or in patients with complications following arthroplasty We recommend, that differential diagnoses - in particular infection -should always be excluded in cooperation with surgery collegues. The clinical work up of a patient suspected of suffering from metal implant allergy should include a combined evaluation of medical history, clinical findings, patch testing and histology In vitro testing, namely the lymphocyte transformation test (LTT, can indicate metal sensitization, but needs careful interpretation.

  15. 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 ...

  16. Evaluation of Clinical and Laboratory Data in Patients with Recurrent Infections and Suspected Immunodeficiency

    Directory of Open Access Journals (Sweden)

    Hamid Ahanchian

    2014-09-01

    Full Text Available Background: Frequent infections is among the most frequent clinical dilemmas for primary care physicians. Immunodeficiency disorders are a heterogeneous group of illnesses that predispose patients to the recurrent infections, autoimmunity and malignancies. The aim of this study was to evaluate the clinical and laboratory data collected for the final diagnosis of patients referred with recurrent infections and suspected immunodeficiency to a local immunodeficiency clinic.   Methods: This epidemiological study was carried out between April 2010 and September 2012 at the Immunodeficiency Clinic of Mashhad. All patients with clinical manifestations of immunodeficiency who were referred to our clinic during this period of time were included in this study. 41 patients aged from 10 months to 51 years, were evaluated. Results: Forty one patients, aged between 10 months and 51 years were evaluated. Eleven patients had a primary immunodeficiency, four cases had a secondary immunodeficiency, in three patients an underlying structural disease were found, eight patients were predisposed to recurrent infections as a result of allergies and finally, fifteen cases were found to be normal individuals.   Discussion: Most patients with recurrent infection have a normal immune system. Allergic disorders are the most common predisposing factor to recurrent infection. However, as immunodeficiency disorders are potentially serious, early diagnosis can improve the quality of life and outcome and prevent severe sequels in future.

  17. Suspected pulmonary embolism and deep venous thrombosis: A comprehensive MDCT diagnosis in the acute clinical setting

    Energy Technology Data Exchange (ETDEWEB)

    Salvolini, Luca [Radiology Department, ' Umberto I' Hospital - Ospedali Riuniti - ' Politecnica delle Marche' University, Via Conca, 60020 Ancona (Italy)], E-mail: lucasalvolini@alice.it; Scaglione, Mariano [Emergency and Trauma CT Section, Department of Radiology, Cardarelli Hospital, Via G. Merliani 31, 80127 Naples (Italy); Giuseppetti, Gian Marco; Giovagnoni, Andrea [Radiology Department, ' Umberto I' Hospital - Ospedali Riuniti - ' Politecnica delle Marche' University, Via Conca, 60020 Ancona (Italy)

    2008-03-15

    Both pulmonary arterial and peripheral venous sides of venous thromboembolism (VTE) can now be efficiently and safely investigated by multi-detector CT (MDCT) at the same time by a combined CT angiography/CT venography protocol. In the emergency setting, the use of such a single test for patients suspected of suffering from VTE on a clinical grounds may considerably shorten and simplify diagnostic algorithms. The selection of patients to be submitted to MDCT must follow well-established clinical prediction rules in order to avoid generalized referral to CT on a generic clinical suspicion basis and excessive population exposure to increased ionizing radiation dose, especially in young patients. Clinical and anatomical wide-panoramic capabilities of MDCT allow identification of underlying disease that may explain patients' symptoms in a large number of cases in which VTE is not manifest. The analysis of MDCT additional findings on cardiopulmonary status and total thrombus burden can lead to better prognostic stratification of patients and influence therapeutic options. Some controversial points such as optimal examination parameters, clinical significance of subsegmentary emboli, CT pitfalls and/or possible falsely positive diagnoses, and outcome of untreated patients in which VTE has been excluded by MDCT without additional testing, must of course be taken into careful consideration before the definite role of comprehensive MDCT VTE 'one-stop-shop' diagnosis in everyday clinical practice can be ascertained.

  18. Suspected pulmonary embolism and deep venous thrombosis: A comprehensive MDCT diagnosis in the acute clinical setting

    International Nuclear Information System (INIS)

    Salvolini, Luca; Scaglione, Mariano; Giuseppetti, Gian Marco; Giovagnoni, Andrea

    2008-01-01

    Both pulmonary arterial and peripheral venous sides of venous thromboembolism (VTE) can now be efficiently and safely investigated by multi-detector CT (MDCT) at the same time by a combined CT angiography/CT venography protocol. In the emergency setting, the use of such a single test for patients suspected of suffering from VTE on a clinical grounds may considerably shorten and simplify diagnostic algorithms. The selection of patients to be submitted to MDCT must follow well-established clinical prediction rules in order to avoid generalized referral to CT on a generic clinical suspicion basis and excessive population exposure to increased ionizing radiation dose, especially in young patients. Clinical and anatomical wide-panoramic capabilities of MDCT allow identification of underlying disease that may explain patients' symptoms in a large number of cases in which VTE is not manifest. The analysis of MDCT additional findings on cardiopulmonary status and total thrombus burden can lead to better prognostic stratification of patients and influence therapeutic options. Some controversial points such as optimal examination parameters, clinical significance of subsegmentary emboli, CT pitfalls and/or possible falsely positive diagnoses, and outcome of untreated patients in which VTE has been excluded by MDCT without additional testing, must of course be taken into careful consideration before the definite role of comprehensive MDCT VTE 'one-stop-shop' diagnosis in everyday clinical practice can be ascertained

  19. Follow-up of Mothers with Suspected Postpartum Depression from Pediatrics Clinics

    Directory of Open Access Journals (Sweden)

    Nerissa S. Bauer

    2017-10-01

    Full Text Available PurposePediatric providers are increasingly screening for postpartum depression (PD, yet, it is unknown how often mothers comply with recommendations to seek treatment. The objectives were to describe the rate at which mothers with suspected PD seek treatment and explore factors that predict help-seeking behavior.Design and methodsMothers were recruited from four pediatric clinics after identification using the Child Health Improvement through Computer Automation (CHICA system. Mothers with a positive screen were invited to participate in a telephone interview between January 2012 and December 2014. Mothers reported if they sought treatment or called a community resource.Results73 of 133 eligible mothers participated (55% response rate. Fifty women recalled a recommendation to seek help. Only 43.8% (32/73 made a follow-up appointment with an adult provider and even fewer kept the appointment.ConclusionA majority of mothers suspected of having PD recalled a referral for further intervention; yet, less than half took action. Further investigation of barriers of help-seeking behavior is warranted.

  20. Sensitivity, specificity and predictive value of blood cultures from cattle clinically suspected of bacterial endocarditis

    DEFF Research Database (Denmark)

    Houe, Hans; Eriksen, L.; Jungersen, Gregers

    1993-01-01

    This study investigated the number of blood culture-positive cattle among 215 animals clinically suspected of having bacterial endocarditis. For animals that were necropsied, the sensitivity, specificity and predictive value of the diagnosis of endocarditis were calculated on the basis...... of the isolation of the causative bacteria from blood. Furthermore, it was investigated whether the glutaraldehyde coagulation time, total leucocyte count, per cent neutrophil granulocytes, pulse rate and duration of disease could help to discriminate endocarditis from other diseases. Among 138 animals necropsied...... the sensitivity, specificity and predictive value of blood cultivation were 70.7 per cent, 93.8 per cent and 89.1 per cent, respectively. None of the other measurements could be used to discriminate between endocarditis and non-endocarditis cases....

  1. Clinical and laboratory profile of Zika virus infection in dengue suspected patients: A case series.

    Science.gov (United States)

    Fernanda Estofolete, Cássia; Terzian, Ana Carolina Bernardes; Parreira, Ricardo; Esteves, Aida; Hardman, Lucas; Greque, Gilmar Valdir; Rahal, Paula; Nogueira, Maurício Lacerda

    2016-08-01

    The Zika virus (ZIKV) is an emerging arthropod-borne virus related to the dengue virus (DENV), and shows a similar clinical profile as other arboviral diseases, such as dengue and chikungunya virus (CHIKV). Historically, ZIKV has been associated with sporadic cases of human infection, but is now responsible for outbreaks worldwide. In Brazil, cases have been reported since 2015, with some cases causing severe disease. To identify clinical symptoms of Zika in patients in Dengue suspected patients. Description of a series of cases, wherein we analyzed 100 clinical samples collected from patients who exhibited acute febrile disease for ≤5days, from January to February 2016. In this study, we report 13 cases of ZIKV infection in adults presenting dengue-like symptoms in a DENV endemic area. All patients presented with fever, with myalgia being the second most frequently observed symptom. Two patients had rashes, but none of them had conjunctivitis. Other less frequent manifestations included headache, arthralgia, diarrhea, and nausea. The co-circulation of ZIKV and DENV is a serious public health concern, since it represents both a clinical and diagnostic challenge in endemic areas, as well as in the field of travel medicine. Copyright © 2016 Elsevier B.V. All rights reserved.

  2. Identification and speciation of Malassezia in patients clinically suspected of having pityriasis versicolor

    Directory of Open Access Journals (Sweden)

    Avani Shah

    2013-01-01

    Full Text Available Background: Malassezia is a lipid-dependent yeast known to cause Pityriasis versicolor, a chronic, recurrent superficial infection of skin and present as hypopigmented or hyperpigmented lesions on areas of skin. If not diagnosed and treated, it may lead to disfigurement of the areas involved and also result in deep invasive infections. Aim: The aim of the present study was to identify and speciate Malassezia in patients clinically suspected of having Pityriasis versicolor. Materials and Methods: Total 139 patients suspected of having Pityriasis versicolor were evaluated clinically and diagnosis was done by Wood′s lamp examination, confirmed mycologically by using KOH, cultivation on Sabouraud′s dextrose agar and modified Dixon agar at a tertiary care hospital in Mumbai. The total duration of study was 12 months. Results: Majority of the patients were males (59.71% in the age group of 21-30 years (33.81% who were students (30.21% by profession. The incidence of Malassezia in Pityriasis versicolor was 50.35%. The most common isolate was M. globosa (48.57%, followed by M. furfur (34.28%. Majority of the patients had hypopigmented lesions, with M. globosa as the predominant isolate. Neck was the most common site affected; 88.48% were Wood′s lamp positive of which 56.91% of Malassezia isolates grew on culture. KOH mount was positive in 82.01% of which 61.40% Malassezia isolates grew on culture. Conclusions: The procedure of culture and antifungal testing is required to be performed as different species of Malassezia are involved in Pityriasis versicolor and susceptibility is different among different species. Thus, it would help to prevent recurrences and any systemic complications.

  3. The frequency of peritoneal tuberculosis using diagnostic laparoscopy in clinically suspected cases

    International Nuclear Information System (INIS)

    Sattar, Z.; Iqbal, M.

    2014-01-01

    Introduction: Diagnostic laparoscopy allows the visual examination and documentation of intra-abdominal organs in order to detect any pathology. It is an important tool for final minimally invasive exploration of patients with abdominal tuberculosis, the diagnosis of which remains uncertain despite employing the requisite laboratory and non-invasive imaging investigations. Objective: To determine the frequency of peritoneal tuberculosis using diagnostic laparoscopy in clinically suspected cases of peritoneal tuberculosis. Study Design: Cross sectional survey. Setting: The study was conducted in all the four Surgical Wards on surgical floor of Mayo Hospital Lahore. Duration of Study with Dates: Six months (1st July 2009 to 31st December 2009). Material and Methods: 35 Patients aged between 13-60 years with clinical suspicion of peritoneal tuberculosis were selected. The patients underwent the procedure accordingly. Per operative diagnosis of peritoneal tuberculosis made on the basis of presence of any or all of the operative (laparoscopic) findings such as multiple peritoneal adhesions, fibrous bands, whitish peritoneal tubercles, omental thickening and ascites. Diagnosis was confirmed with histopathology of peritoneal tissue biopsy. Also the biochemical analysis and culture sensitivity of ascetic fluid was routinely performed if any ascites is present. Results: Out of 35 patients, 40% were males and 60% females with mean age of 24.91+-6.69 years. The Laparoscopic findings of peritoneal tuberculosis were whitish peritoneal tubercles (57.2%) peritoneal adhesions (28.6%), ascites (17.2%), omental thickening (14.3%), fibrous bands (11.4%) and swollen edematous appendix (5.7%). Eighty percent were labeled with diagnosis of peritoneal tuberculosis on basis of diagnostic laparoscopy. These patients were confirmed to have peritoneal tuberculosis on histopathology of tissue biopsy. Conclusion: Diagnostic laparoscopy is useful in patients with suspected peritoneal

  4. Clinical value of somatostatin receptor imaging in patients with suspected head and neck paragangliomas

    Energy Technology Data Exchange (ETDEWEB)

    Schmidt, Matthias; Dietlein, Markus; Weber, Kerstin; Moka, Detlef; Schicha, Harald [Klinik und Poliklinik fuer Nuklearmedizin, Universitaet zu Koeln, Joseph-Stelzmann-Strasse 9, 50924 Koeln (Germany); Fischer, Eva; Michel, Olaf; Stennert, Eberhard [Klinik und Poliklinik fuer Hals-, Nasen- und Ohrenheilkunde, Universitaet zu Koeln, Koeln (Germany)

    2002-12-01

    Paragangliomas or glomus tumours of the head and neck region are rare somatostatin receptor-expressing neuroendocrine tumours. Precise preoperative diagnosis is of special importance in order to adequately weigh the potential benefit of the operation against the inherent risks of the procedure. In this study, the clinical value of somatostatin receptor imaging was assessed in 19 patients who underwent somatostatin receptor scintigraphy because of known or suspected paraganglioma of the head and neck region. The results were compared with the results of computed tomography and/or magnetic resonance imaging, histology and clinical follow-up. [{sup 111}In-DTPA-D-Phe{sup 1}]-octreotide scintigraphy was performed 4-6 and 24 h after i.v. injection of 140-220 MBq {sup 111}In-octreotide. Whole-body and planar images as well as single-photon emission tomography images were acquired and lesions were graded according to qualitative tracer uptake. Somatostatin receptor imaging was positive in nine patients, identifying paragangliomas for the first time in three patients and recurrent disease in six patients. In one patient, a second, previously unknown paraganglioma site was identified. Negative results were obtained in ten patients. These patients included one suffering from chronic hyperplastic otitis externa, one with granuloma tissue and an organised haematoma, one with an acoustic neuroma, one with an asymmetric internal carotid artery, two with ectasia of the bulbus venae jugularis and one with a jugular vein thrombosis. In two patients with a strong family history of paraganglioma, individual involvement could be excluded. In only one patient did somatostatin receptor imaging and magnetic resonance imaging yield false negative results in respect of recurrent paraganglioma tissue. It is concluded that somatostatin receptor scintigraphy provides important information in patients with suspected paragangliomas of the head and neck region and has a strong impact on further

  5. Clinical utility of magnetic resonance imaging radiographs for suspected organic syndromes in adult psychiatry.

    Science.gov (United States)

    Erhart, Stephen M; Young, Alexander S; Marder, Stephen R; Mintz, Jim

    2005-08-01

    In psychiatric practice, adult patients are most commonly referred for magnetic resonance imaging (MRI) to screen for suspected organic medical diseases of the central nervous system that can mimic psychiatric syndromes. We identified the most common signs and symptoms prompting MRIs to establish the predictive value of these signs and symptoms for clinically pertinent organic syndromes. This study was a retrospective chart review of psychiatric patients at the Veterans Affairs Greater Los Angeles Health Care Center (Los Angeles, Calif.) who were referred for MRI of the brain between 1996 and 2002. Patients referred for evaluation of dementia were excluded. The specific indications leading clinicians to obtain MRI were identified and grouped. In order to offset the uncertain significance of many MRI findings, for this study, the predictive value of each indication was calculated based on the percentage of patients in whom clinical management changed in response to MRI findings rather than on the percentage with any abnormal MRI results. Of 253 patients who had MRIs, 38 (15%) incurred some degree of treatment modification as a result of MRI findings, including 6 patients in whom MRI identified a medical condition that became the focus of treatment. Six indications appeared most likely to prompt clinicians to obtain MRIs. Because pertinent results were associated with each of these indications, statistical evaluation did not reveal significant differences in their predictive values (chi(2) = 4.32, df = 5, p = .505). Unlike prior studies showing no value to screening radioimaging, this study shows MRI can be a useful screening test among patients suspected of having organic psychiatric disorders and that the common indications for MRI employed at one institution were predictive.

  6. Congenital posterolateral diaphragmatic hernia : pathophysiological studies and clinical picture

    NARCIS (Netherlands)

    A.P. Bos (Albert)

    1993-01-01

    textabstractCongenital diaphragmatic hernias are classified according to the location of the defect: posterolateral hernia with or without a sac (Bochdalek-type), parasternal hernia through the foramen of Morgagni, central hernia, and diaphragmatic eventration. The so-called hiatal hernia has a

  7. Clinical observation of capsular tension ring implantation in congenital lens subluxation treating by phacoemulsification

    OpenAIRE

    Liang-Nan Sun; Bai-Jun Li; Yuan-Fei Zhu; Xin-Hua Liu

    2017-01-01

    AIM: To evaluate the clinical results of capsular tension ring(CTR)implantation in phacoemulsification for eyes with congenital lens subluxation. METHODS: This study comprised 18 patients(31 eyes)with congenital ectopia lentis. All patients received phacoemulsification with CTR and intraocular lens(IOL)implantation. Visual acuity before and after surgery were examined. IOL decentration were measured with Image-Pro Plus image processing software. The complications were also recorded preoperati...

  8. Impact of delay in clinical presentation on the diagnostic management and prognosis of patients with suspected pulmonary embolism

    NARCIS (Netherlands)

    Den Exter, Paul L.; Van Es, Josien; Erkens, Petra M.G.; Van Roosmalen, Mark J.G.; Van Den Hoven, Pim; Hovens, Marcel M.C.; Kamphuisen, Pieter W.; Klok, Frederikus A.; Huisman, Menno V.

    2013-01-01

    Rationale: The nonspecific clinical presentation of pulmonary embolism (PE) frequently leads to delay in its diagnosis. Objectives: This study aimed to assess the impact of delay in presentation on the diagnostic management and clinical outcome of patients with suspected PE. Methods: In 4,044

  9. Impact of delay in clinical presentation on the diagnostic management and prognosis of patients with suspected pulmonary embolism

    NARCIS (Netherlands)

    Den Exter, P. L.; Van Es, J.; Erkens, P. G. M.; Roosmalen, M.; Hoven, P.; Hovens, M.; Kamphuisen, P. W.; Klok, F. A.; Huisman, M.

    Background: The non-specific clinical presentation of pulmonary embolism (PE) frequently leads to delay in its diagnosis. Aims: To assess the impact of delay in presentation on the diagnostic management and clinical outcome of patients with suspected PE. Methods: For this post-hoc analysis, we used

  10. Congenital Upper Eyelid Coloboma: Clinical and Surgical Management.

    Science.gov (United States)

    Ortega Molina, José María; Mora Horna, Eduardo Ramón; Salgado Miranda, Andrés David; Rubio, Rosa; Solans Pérez de Larraya, Ana; Salcedo Casillas, Guillermo

    2015-01-01

    Purpose. The goal was to describe our experience in the surgical management and treatment of four patients with congenital upper eyelid colobomas. Methods. A descriptive, observational, retrospective study was performed including patients with congenital eyelid colobomas referred to Asociación para Evitar la Ceguera en México I.A.P. "Dr. Luis Sánchez Bulnes" between 2004 and 2014 and assessed by the Oculoplastics and Orbit Service. Results. The four cases required surgical treatment of the eyelid defects before one year of age and their evolution was monitored from the time of referral to the present day. One of the patients needed a second surgical procedure to repair the eyelid defect and correct the strabismus. Conclusions. Eyelid colobomas are a potential threat to vision at an early age, which requires close monitoring of the visual development of patients.

  11. Screening for skin-sensitizing allergens among patients with clinically suspected allergic contact dermatitis

    Directory of Open Access Journals (Sweden)

    Zahid Shakoor

    2017-09-01

    Full Text Available Objectives: To detect common skin-sensitizing agents among patients experiencing allergic contact dermatitis (ACD. Methods: This was a retrospective study of 152 patients with clinically suspected ACD who underwent patch testing in an allergy clinic at King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia between January 2012 and February 2015. Of these patients, only 74 (48% patients reacted to one or more contact allergens. This group of patients included 58 (78.4% women and 16 (21.6% men (mean age: 37.8±13.8 years. Patch testing was performed using the thin-layer rapid-use epicutaneous patch test panels. Results: Nickel sulfate was the most common sensitizing agent, with 26 (35.1% patients yielding a positive result; followed by p-phenylenediamine in 17 (22.9%, butyl-tetra-phenol formaldehyde in 12 (16.2%, gold sodium thiosulfate in 10 (13.5%, and thimerosal in 6 (8.1% patients. Nickel reactivity was significantly higher among women (41.4% than among men (12.5% (p less than 0.0001. Similarly, gold reactivity among women (15.5% was also higher than among men (6.2% (p≤0.02. Conclusion: The high level of skin sensitization due to nickel, PPD, and gold in patients with ACD emphasizes the need for measures to decrease exposure to these sensitizing agents.

  12. The relationships between clinical variables and renal parenchymal disease in pediatric clinically suspected urinary tract infection

    Directory of Open Access Journals (Sweden)

    Jung Lim Byun

    2010-02-01

    Full Text Available Purpose : To evaluate the significance of clinical signs and laboratory findings as predictors of renal parenchymal lesions and vesicoureteral reflux (VUR in childhood urinary tract infection (UTI. Methods : From July 2005 to July 2008, 180 patients admitted with a first febrile UTI at the Pediatric Department of Konkuk University Hospital were included in this study. The following were the clinical variables: leukocytosis, elevated C-reactive protein (CRP, positive urine nitrite, positive urine culture, and fever duration both before and after treatment. We evaluated the relationships between clinical variables and dimercaptosuccinic acid (DMSA scan and voiding cystourethrography (VCUG results. Results : VCUG was performed in 148 patients; of them, 37 (25.0% had VUR: 18 (12.2% had low-grade (I-II VUR, and 19 (10.5% had high-grade (III-V VUR. Of the 95 patients who underwent DMSA scanning, 29 (30.5% had cortical defects, of which 21 (63.6% had VUR: 10 (30.3%, low-grade (I-II VUR; and 11 (33.3%, high-grade VUR. Of the 57 patients who were normal on DMSA scan, 8 (14.0% had low-grade VUR and 6 (10.5% had high-grade VUR. The sensitivity, specificity, and positive and negative predictive values of the DMSA scan in predicting high-grade VUR were 64.7%, 69.9%, 33.3%, and 89.5%, respectively. Leukocytosis, elevated CRP, and prolonged fever (?#243;6 hours after treatment were significantly correlated with the cortical defects on DMSA scans and high-grade VUR. Conclusion : Clinical signs, including prolonged fever after treatment, elevated CRP, and leukocytosis, are positive predictors of acute pyelonephritis and high-grade VUR.

  13. A review of congenital lung malformations with a simplified classification system for clinical and research use.

    Science.gov (United States)

    Seear, Michael; Townsend, Jennifer; Hoepker, Amy; Jamieson, Douglas; McFadden, Deborah; Daigneault, Patrick; Glomb, William

    2017-06-01

    Congenital lung abnormalities are rare malformations increasingly detected early by prenatal ultrasound. Whether management of these frequently asymptomatic lesions should be surgical or conservative is an unresolved issue. The necessary prospective studies are limited by the absence of a widely accepted practical classification system. Our aim was to develop a simple, clinically relevant system for classifying and studying congenital lung abnormalities. We based our proposed grouping on a detailed analysis of clinical, radiological, and histological data from well-documented cases, plus an extensive review of the literature. The existence of hybrid lesions and common histological findings suggested a unified embryological mechanism-possibly obstruction of developing airways with distal dysplasia. Malformations could be classified by their anatomical and pathological findings; however, a system based on the prenatal ultrasound plus initial chest X-ray findings had greater clinical relevance: Group 1-Congenital solid/cystic lung malformation, Group 2-Congenital hyperlucent lobe, Group 3-Congenital small lung. Pathological classification is academically important but is unnecessarily complex for clinical and research use. Our simple radiological-based system allows unambiguous comparison between the results of different studies and also guides the choice of necessary investigations specific to each group.

  14. Histological outcome of duodenal biopsies in patients with clinically suspected celiac disease - a study of 100 cases

    International Nuclear Information System (INIS)

    Sarfraz, T.; Khan, S.A.; Tariq, H.

    2018-01-01

    To see the histological outcome of duodenal biopsies done in patients clinically suspected of celiac disease. Study Design: Prospective descriptive study. Place and Duration of Study: Histopathology Department, Army Medical College Rawalpindi, from 1 Jan 2017 to 30 Jun 2017. Material and Methods: One hundred (100) cases were included in the study. Duodenal biopsies done in patients clinically suspected of celiac disease were included in the study. Inadequate biopsies were excluded from the study. All the normal and abnormal histological features were noted to make the diagnosis. Data was entered and analyzed by using SPSS version 17. Results: Duodenal biopsies of 100 patients, done in clinically suspected cases of celiac disease were analyzed histologically. Out of these 100 cases, 46 cases (46%) showed histological features consistent with celiac disease, while 38 cases (38%) revealed chronic non specific duodenitis, 2 cases (2%) were of giardiasis, while 14 biopsies (14%) were unremarkable with no significant pathology. Conclusion: A significant number of cases clinically suspected of celiac disease may not be showing histological features consistent with celiac disease on duodenal biopsies. Due to the changing presentation of disease, as well as the recognition of a number of potential clinical and histopathological mimics, communication between pathologists and gastroenterologists is essential for appropriate interpretation of duodenal biopsy specimens. (author)

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

    Science.gov (United States)

    Zhu, X; Lian, N; Cai, Z

    1995-01-01

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

  16. Computed tomography versus magnetic resonance imaging versus bone scintigraphy for clinically suspected scaphoid fractures in patients with negative plain radiographs

    NARCIS (Netherlands)

    Mallee, Wouter H.; Wang, Junfeng; Poolman, Rudolf W.; Kloen, Peter; Maas, Mario; de Vet, Henrica C. W.; Doornberg, Job N.

    2015-01-01

    In clinically suspected scaphoid fractures, early diagnosis reduces the risk of non-union and minimises loss in productivity resulting from unnecessary cast immobilisation. Since initial radiographs do not exclude the possibility of a fracture, additional imaging is needed. Computed tomography (CT),

  17. Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.

    Directory of Open Access Journals (Sweden)

    Felipe Carneiro da Silva

    Full Text Available Lynch syndrome (LS accounts for 3-5% of all colorectal cancers (CRC and is inherited in an autosomal dominant fashion. This syndrome is characterized by early CRC onset, high incidence of tumors in the ascending colon, excess of synchronous/metachronous tumors and extra-colonic tumors. Nowadays, LS is regarded of patients who carry deleterious germline mutations in one of the five mismatch repair genes (MMR, mostly in MLH1 and MSH2, but also in MSH6, PMS1 and PMS2. To comprehensively characterize 116 Brazilian patients suspected for LS, we assessed the frequency of germline mutations in the three minor genes MSH6, PMS1 and PMS2 in 82 patients negative for point mutations in MLH1 and MSH2. We also assessed large genomic rearrangements by MLPA for detecting copy number variations (CNVs in MLH1, MSH2 and MSH6 generating a broad characterization of MMR genes. The complete analysis of the five MMR genes revealed 45 carriers of pathogenic mutations, including 25 in MSH2, 15 in MLH1, four in MSH6 and one in PMS2. Eleven novel pathogenic mutations (6 in MSH2, 4 in MSH6 and one in PMS2, and 11 variants of unknown significance (VUS were found. Mutations in the MLH1 and MSH2 genes represented 89% of all mutations (40/45, whereas the three MMR genes (MSH6, PMS1 and PMS2 accounted for 11% (5/45. We also investigated the MLH1 p.Leu676Pro VUS located in the PMS2 interaction domain and our results revealed that this variant displayed no defective function in terms of cellular location and heterodimer interaction. Additionally, we assessed the tumor phenotype of a subset of patients and also the frequency of CRC and extra-colonic tumors in 2,365 individuals of the 116 families, generating the first comprehensive portrait of the genetic and clinical aspects of patients suspected of LS in a Brazilian cohort.

  18. Cohort study on maternal cytomegalovirus seroprevalence and prevalence and clinical manifestations of congenital infection in China

    Science.gov (United States)

    Wang, Shiwen; Wang, Tongzhan; Zhang, Wenqiang; Liu, Xiaolin; Wang, Xiaofang; Wang, Haiyan; He, Xiaozhou; Zhang, Shunxian; Xu, Shuhui; Yu, Yang; Jia, Xingbing; Wang, Maolin; Xu, Aiqiang; Ma, Wei; Amin, Minal M.; Bialek, Stephanie R.; Dollard, Sheila C.; Wang, Chengbin

    2017-01-01

    Abstract Congenital cytomegalovirus (CMV) infection is the leading viral cause of birth defects and developmental disabilities in developed countries. However, CMV seroprevalence and burden of congenital CMV infection are not well defined in China. Cohort of newborns from 5 birthing hospitals in 2 counties of Shandong Province, China, were enrolled from March 2011 to August 2013. Dried blood spots (DBS) and saliva were collected within 4 days after birth for IgG testing for maternal seroprevalence and real-time PCR testing for congenital CMV infection, respectively. Among 5020 newborns tested for CMV IgG, 4827 were seropositive, resulting in CMV maternal seroprevalence of 96.2% (95% confidence interval [CI]:95.6%–96.7%). Of the 10,933 newborns screened for congenital CMV infection, 75 had CMV detected, resulting in an overall prevalence of 0.7% (95% CI: 0.5%–0.9%), with prevalences of 0.4% (14/3995), 0.6% (66/10,857), and 0.7% (52/7761) for DBS, wet saliva, and dried saliva specimens screened, respectively. Prevalence of congenital CMV infection decreased with increasing maternal age (0.9%, 0.6%, and 0.3% among newborns delivered from mothers aged 16–25, 26–35, and >35 years, respectively; P = 0.03), and was higher among preterm infants than full term infants (1.3% vs 0.6%, P = 0.04), infants with intrauterine growth restriction (IUGR) than those without (1.8% vs 0.7%, P = 0.03), and twins or triplets than singleton pregnancies (2.8% vs 0.7%, P = 0.04). None of the 75 newborns exhibited symptomatic congenital CMV infection, and there was no difference in clinical characteristics and newborn hearing screening results between infants with and without congenital CMV infection at birth. Congenital CMV infection prevalence was lower and the clinical manifestations were milder in this relatively developed region of China compared to populations from other countries with similarly high maternal seroprevalence. Follow-up on children with congenital

  19. Practice patterns and clinical significance of use of capsule endoscopy in suspected and established Crohn's disease

    Directory of Open Access Journals (Sweden)

    Yonghyun Kim

    2017-10-01

    Full Text Available Background/Aims: Although the role of capsule endoscopy (CE in Crohn's disease (CD has expanded, CE is not used routinely for diagnosing and evaluating CD in Korea. We aimed to investigate current patterns of practice and evaluate the clinical significance of the use of CE in CD in Korean patients.Methods: Among 651 CE procedures performed for various indications, we retrospectively analyzed the medical records of patients who underwent CE in 57 cases of suspected CD (sCD and 14 cases of established CD (eCD.Results: In the sCD group, CE was most commonly used for the initial diagnosis of CD (54.4%. Capsule retention was found in only 1 patient in the eCD group (1/71, 1.4%. In the sCD group, 28.1% of patients were diagnosed with CD on the basis of CE findings; other diseases diagnosed included tuberculous enteritis (7.0%, non-steroidal anti-inflammatory drug-induced enteropathy (5.3%, and other enteritis (17.5%. Only 11.5% of patients with eCD (14/122 underwent CE. The indication for CE in the 14 patients with eCD was to assess disease extent and activity. The overall diagnostic yield of CE was 59.7%. Therapeutic strategies were changed in 70.2% of patients in the sCD group and 50% of those in the eCD group based on CE findings.Conclusions: In clinical practice, CE was most commonly indicated for the initial diagnosis of CD and was not generally performed in patients with eCD. CE appears to be an effective diagnostic modality for evaluating sCD and is useful for determining therapeutic strategies for patients with sCD and those with eCD.

  20. Randomized clinical trial of preoperative dexamethasone on postoperative nausea and vomiting after laparoscopy for suspected appendicitis

    DEFF Research Database (Denmark)

    Kleif, J.; Kirkegaard, A.; Vilandt, J.

    2017-01-01

    Background: Few studies have investigated the effects of preoperative dexamethasone in acute surgical patients. This study examined the effects of 8 mg dexamethasone administered intravenously 30 min before surgery for suspected acute appendicitis. Methods: A multicentre, parallel-group, double......-blind, placebo-controlled study was conducted at two university hospitals in Denmark. Adults undergoing laparoscopic surgery for suspected appendicitis were eligible for inclusion. Participants, healthcare staff and investigators were blinded until all data analysis had been done. The primary outcome...

  1. A simple MRI protocol in patients with clinically suspected appendicitis: results in 138 patients and effect on outcome of appendectomy

    International Nuclear Information System (INIS)

    Cobben, Lodewijk; Groot, Ingrid; Kingma, Lucas; Coerkamp, Emile; Puylaert, Julien; Blickman, Johan

    2009-01-01

    To establish the value of breathhold magnetic resonance imaging (MRI) in the diagnosis of acute appendicitis. Over a 14-month period, 138 patients clinically suspected of having appendicitis were evaluated prospectively with MRI and comprised the study group. Fast turbo spin-echo breathhold T1, T2 and T2 fat suppression sequences were used in coronal and axial planes. The imaging results were recorded separately and subsequently correlated with clinical, radiological and histopathological follow-up. The effect of imaging strategies in patients suspected of appendicitis on hospital resources was calculated. Sixty-two of the 138 patients had a histopathologically proven appendicitis. MRI determined appendicitis in 63 patients, with one examination being false positive. The resulting sensitivity and specificity were 100% and 99%, respectively. MRI showed an alternative diagnosis in 41 of the 75 remaining patients. In 22 of the remaining 34 patients, a normal appendix was depicted with MRI. In two patients, where MRI showed no appendicitis, an alternative diagnosis or normal appendix, an unnecessary appendectomy was performed. The overall effect of using MRI in patients suspected of appendicitis on the use of hospital resources could have been a net saving between EUR 55,746 and EUR 72,534. MRI has a high accuracy in detecting and excluding appendicitis, an alternative diagnosis or showing the normal appendix, and can be a valuable and cost-effective tool in the workup of patients clinically suspected of having appendicitis. (orig.)

  2. A simple MRI protocol in patients with clinically suspected appendicitis: results in 138 patients and effect on outcome of appendectomy

    Energy Technology Data Exchange (ETDEWEB)

    Cobben, Lodewijk [Medisch Centrum Haaglanden, Department of Radiology, Leidschendam (Netherlands); Groot, Ingrid [Medisch Centrum Haaglanden, Department of Surgery, Leidschendam (Netherlands); Kingma, Lucas; Coerkamp, Emile; Puylaert, Julien [Medisch Centrum Haaglanden, Department of Radiology, Den Haag (Netherlands); Blickman, Johan [Universitair Medisch Centrum St Radboud, Department of Radiology, Geert Grooteplein 10, GA, Nijmegen (Netherlands)

    2009-05-15

    To establish the value of breathhold magnetic resonance imaging (MRI) in the diagnosis of acute appendicitis. Over a 14-month period, 138 patients clinically suspected of having appendicitis were evaluated prospectively with MRI and comprised the study group. Fast turbo spin-echo breathhold T1, T2 and T2 fat suppression sequences were used in coronal and axial planes. The imaging results were recorded separately and subsequently correlated with clinical, radiological and histopathological follow-up. The effect of imaging strategies in patients suspected of appendicitis on hospital resources was calculated. Sixty-two of the 138 patients had a histopathologically proven appendicitis. MRI determined appendicitis in 63 patients, with one examination being false positive. The resulting sensitivity and specificity were 100% and 99%, respectively. MRI showed an alternative diagnosis in 41 of the 75 remaining patients. In 22 of the remaining 34 patients, a normal appendix was depicted with MRI. In two patients, where MRI showed no appendicitis, an alternative diagnosis or normal appendix, an unnecessary appendectomy was performed. The overall effect of using MRI in patients suspected of appendicitis on the use of hospital resources could have been a net saving between EUR 55,746 and EUR 72,534. MRI has a high accuracy in detecting and excluding appendicitis, an alternative diagnosis or showing the normal appendix, and can be a valuable and cost-effective tool in the workup of patients clinically suspected of having appendicitis. (orig.)

  3. Lack of clinical utility of urine gram stain for suspected urinary tract infection in pediatric patients.

    Science.gov (United States)

    Cantey, Joseph B; Gaviria-Agudelo, Claudia; McElvania TeKippe, Erin; Doern, Christopher D

    2015-04-01

    Urinary tract infection (UTI) is one of the most common infections in children. Urine culture remains the gold standard for diagnosis, but the utility of urine Gram stain relative to urinalysis (UA) is unclear. We reviewed 312 pediatric patients with suspected UTI who had urine culture, UA, and urine Gram stain performed from a single urine specimen. UA was considered positive if ≥10 leukocytes per oil immersion field were seen or if either nitrates or leukocyte esterase testing was positive. Urine Gram stain was considered positive if any organisms were seen. Sensitivity, specificity, and positive and negative predictive values were calculated using urine culture as the gold standard. Thirty-seven (12%) patients had a culture-proven UTI. Compared to urine Gram stain, UA had equal sensitivity (97.3% versus 97.5%) and higher specificity (85% versus 74%). Empirical therapy was prescribed before the Gram stain result was known in 40 (49%) patients and after in 42 (51%) patients. The antibiotics chosen did not differ between the two groups (P=0.81), nor did they differ for patients with Gram-negative rods on urine Gram stain compared to those with Gram-positive cocci (P=0.67). From these data, we conclude that UA has excellent negative predictive value that is not enhanced by urine Gram stain and that antibiotic selection did not vary based on the urine Gram stain result. In conclusion, the clinical utility of urine Gram stain does not warrant the time or cost it requires. Copyright © 2015, American Society for Microbiology. All Rights Reserved.

  4. Congenital terminal transverse deformity of upper limb: clinical and radiological findings in a sporadic care.

    Science.gov (United States)

    Malik, Sajid; Afzal, Muhammad

    2013-03-01

    Congenital transverse limb anomalies are rare, which affect upper and/or lower limbs and may accompany several syndromic malformations. We present a sporadic male subject with congenital, unilateral transverse arrest of the left hand. The affected arm was observed to be short with reduced zeugopod and truncated palm. Fingers were represented by five bead-like nubbins. Roentgenographic examination revealed short radius and ulna with hypoplastic distal heads, absent carpals/metacarpals, and a hypoplastic bony island in each nubbin. Consanguinity was denied, and the subject had no symptoms in the orofacial, neurological and skeletal systems. Detailed clinical data with literature survey is presented.

  5. Clinical observation of capsular tension ring implantation in congenital lens subluxation treating by phacoemulsification

    Directory of Open Access Journals (Sweden)

    Liang-Nan Sun

    2017-07-01

    Full Text Available AIM: To evaluate the clinical results of capsular tension ring(CTRimplantation in phacoemulsification for eyes with congenital lens subluxation. METHODS: This study comprised 18 patients(31 eyeswith congenital ectopia lentis. All patients received phacoemulsification with CTR and intraocular lens(IOLimplantation. Visual acuity before and after surgery were examined. IOL decentration were measured with Image-Pro Plus image processing software. The complications were also recorded preoperatively and postoperatively. RESULTS: Uncorrected vision of all eyes increased after surgery, and all cases had different degree of IOL decentration after surgery. Two eyes received CTR scleral fixation 3mo after surgery because the IOL decentration aggravated during the follow-up period. CONCLUSION: Phacoemulsification with CTR and IOL implantation is effective and safe for congenital lens subluxation. The implantation of CTR increase the stability of the capsular bag, improve the safety of surgery, and maintain the right position of IOL. CTR scleral fixation is a effective supplement for progressive cases.

  6. A new clinical tool for the quantification of myocardial CT perfusion imaging in patients with suspected Ischemic Heart Disease

    Energy Technology Data Exchange (ETDEWEB)

    Ruiz Muñoz, A.; Dux-Santoy Hurtado, L.; Rodriguez Palomares, J.L.; Piella Fenoy, G.

    2016-07-01

    In the clinical practice, the evaluation of myocardial perfusion by using Computed Tomography (CT) Imaging is usually performed visually or semi-quantitatively. The scarcity of quantitative perfusion data not always allows a proper diagnose of patients which are suspected of suffering from some diseases, such as Ischemic Heart Disease (IHD). In this work, a clinical tool for the automatic quantification of myocardial perfusion in patients with suspected IHD is proposed. Myocardial perfusion is assessed based on a combined diagnosis protocol (CT/CTP protocol) which involves the acquisition of two contrastenhanced CT images, one obtained at rest and another acquired under pharmacological stress. The clinical tool allows the automatic quantification of perfusion in different myocardial segments defined according to the 16-AHA-segmentation model of the left ventricle, by providing the mean of Hounsfield Units in those regions. Based on this analysis, the clinicians can compare the values at baseline and at hyperemia, and they can better determine hypoperfusion defects in patients with IHD. The validation of the clinical tool was performed by comparing automatic and manual perfusion measurements of 10 patients with suspected IHD who were previously assessed with Single Photon Emission Computed Tomography (SPECT) for perfusion analysis. A strong linear correlation was found between the automatic and manual results. Afterwards, perfusion defects obtained from CT/CTP protocol were compared to perfusion defects from SPECT, to assess the applicability of this clinical tool for the diagnosis of IHD. (Author)

  7. Ela2 mutations and clinical manifestations in familial congenital neutropenia.

    Science.gov (United States)

    Shiohara, Masaaki; Shigemura, Tomonari; Saito, Shoji; Tanaka, Miyuki; Yanagisawa, Ryu; Sakashita, Kazuo; Asada, Hiroshi; Ishii, Eizaburo; Koike, Kazutoshi; Chin, Motoaki; Kobayashi, Masao; Koike, Kenichi

    2009-05-01

    Three familial cases of each of severe congenital neutropenia (SCN) and cyclic neutropenia (CN) in addition to 3 sporadic cases of SCN were analyzed for neutrophil elastase (Ela2) gene mutation. The contents of the neutrophil-specific granule proteins cathelicidin antimicrobial peptide and neutrophil gelatinase-associated lipocalin were also analyzed in SCN. Genomic DNA was extracted from the patients' peripheral blood or bone marrow, and the coding sequence of the Ela2 gene was amplified by polymerase chain reaction and subjected to direct sequencing. The contents of antimicrobial peptides were analyzed by flow cytometry. Three cases of familial SCN (P13L, R52P, and S97L), 2 of familial CN (W212stop and P110L), and 1 of sporadic SCN (V72M) were shown to have heterozygous mutations in the Ela2 gene. W212stop found in a familial CN case was a novel mutation of Ela2. Prophylactic treatment for growth factors or antibiotic prophylaxis against bacterial infection was useful for lowering the frequency of infectious episodes. Adult patients tended to have less frequent infections compared with minors in the same family. The contents of both cathelicidin antimicrobial peptide and neutrophil gelatinase-associated lipocalin were significantly reduced in SCN compared with healthy controls. Prophylaxis by growth factor or antibiotics is useful for decreasing risks of bacterial infections in SCN and CN. Adults were likely to have less frequent infections than children in familial cases of SCN and CN with the same mutation of Ela2.

  8. The Clinical and Ultrasonic Study of Clinically Suspected Ectopic Pregnancy: Laying Emphasis on 15 proven Ectopic Pregnancies

    Energy Technology Data Exchange (ETDEWEB)

    Byun, Myung Ho; Chung, Yung Sun [Chonnam National University College of Medicine, Gwangju (Korea, Republic of)

    2010-05-15

    Ectopic preganacies are unsuccessful pregnancies that result from implantation of fertilized ovum occurring in an aberrant area. Aside from an emergency case, the early diagnosis of ectopic pregnancy is very difficult particularly in a case with insidious onset and mild clinical manifestations. Early diagnosis not only reduces the danger, but also simplifies the management of ectopic pregnancy. Ultrasonography has been an indispensable diagnostic tool in Obstetrics and Gynecology. In the authors' experience, clinical suspected ectopic pregnancy was one of the common indications for performing ultrasonography. Since Kobayashi at al. reported the appearances of ectopic pregnancy utilizing bistable B-scan ultrasonography, the ultrasonic findings of ectopic pregnancy have been reported by many authors. But, its accuracy and reliability in the diagnosis of ectopic pregnancy are still open to controversy. The authors studied 65 cases of clinically suspected ectopic pregnancy with Picker 80 L gray scale ultrasonography from Aug. 1982 to June. 1983. There were 29 confirmed cases, of which 15 were proved to have ectopic pregnancy and 14 were proved to have diseases other than ectopic pregnancy by surgical and histopathological study or by laparoscopy and follow up study. 29 confirmed cases were reviewed. The results were as follows: 1. Among 15 ectopic pregnancies, there were 12 ampullary pregnancies, 2 isthmic pregnancies and 1 interstitial pregnancy. Among 14 cases of no ectopic pregnancy, there were 5 intrauterine pregnancies, 3 myoma uteri, 2 P.I.D., and 1 case of dermoid cyst, cystic teratoma, H-mole and tubal hematoma due to previous tuball ligation, respectively. 2. The age distribution of ectopic pregnancy was from 22 to 41 years. The common clinical manifestations of ectopic pregnancy were lower abdominal pain (73.3%), vaginal spotting or bleeding (73.3%) and amenorrhea (66.7%). 3. Positive result of urine immunologic pregnancy test was 28.6% in ectopic

  9. The Clinical and Ultrasonic Study of Clinically Suspected Ectopic Pregnancy: Laying Emphasis on 15 proven Ectopic Pregnancies

    International Nuclear Information System (INIS)

    Byun, Myung Ho; Chung, Yung Sun

    2010-01-01

    Ectopic preganacies are unsuccessful pregnancies that result from implantation of fertilized ovum occurring in an aberrant area. Aside from an emergency case, the early diagnosis of ectopic pregnancy is very difficult particularly in a case with insidious onset and mild clinical manifestations. Early diagnosis not only reduces the danger, but also simplifies the management of ectopic pregnancy. Ultrasonography has been an indispensable diagnostic tool in Obstetrics and Gynecology. In the authors' experience, clinical suspected ectopic pregnancy was one of the common indications for performing ultrasonography. Since Kobayashi at al. reported the appearances of ectopic pregnancy utilizing bistable B-scan ultrasonography, the ultrasonic findings of ectopic pregnancy have been reported by many authors. But, its accuracy and reliability in the diagnosis of ectopic pregnancy are still open to controversy. The authors studied 65 cases of clinically suspected ectopic pregnancy with Picker 80 L gray scale ultrasonography from Aug. 1982 to June. 1983. There were 29 confirmed cases, of which 15 were proved to have ectopic pregnancy and 14 were proved to have diseases other than ectopic pregnancy by surgical and histopathological study or by laparoscopy and follow up study. 29 confirmed cases were reviewed. The results were as follows: 1. Among 15 ectopic pregnancies, there were 12 ampullary pregnancies, 2 isthmic pregnancies and 1 interstitial pregnancy. Among 14 cases of no ectopic pregnancy, there were 5 intrauterine pregnancies, 3 myoma uteri, 2 P.I.D., and 1 case of dermoid cyst, cystic teratoma, H-mole and tubal hematoma due to previous tuball ligation, respectively. 2. The age distribution of ectopic pregnancy was from 22 to 41 years. The common clinical manifestations of ectopic pregnancy were lower abdominal pain (73.3%), vaginal spotting or bleeding (73.3%) and amenorrhea (66.7%). 3. Positive result of urine immunologic pregnancy test was 28.6% in ectopic pregnancy

  10. Congenital orbital teratoma | Onyekwe | Nigerian Journal of Clinical ...

    African Journals Online (AJOL)

    This is a case report of a baby with a protruding orbital mass in the left eye with all classical clinical features of teratoma. Though the histopathological report fell short of confirming the diagnosis the clinical features and outcome of management strongly suggest that the lesion is a teratoma. Multidisciplinary approach to the ...

  11. Clinical profile of cyanotic congenital heart disease in neonatal ...

    African Journals Online (AJOL)

    Ashraf Abou-Taleb

    2016-02-01

    Feb 1, 2016 ... rate was 100% in cases of pulmonary atresia and hypoplastic left heart syndrome ..... [10] Patton C, Hey E. How effectively can clinical examination pick up .... [33] Jacobs EGJ, Leung MP, Karlberg J. Distribution of symptomatic.

  12. Clinical background and its relation to results of percutaneous needle biopsy of suspected bone metastasis under guidance with CT fluoroscopy

    International Nuclear Information System (INIS)

    Aoki, Jun; Koyama, Yoshinori; Morita, Hideo; Takahashi, Ayako; Nakajima, Takahito; Yagi, Akiko; Arai, Kiyokazu; Shinozaki, Tetsuya; Watanabe, Hideomi

    2005-01-01

    The purpose of this study was to investigate the clinical background of needle biopsy of suspected bone metastasis under guidance with CT fluoroscopy. During a 3-year period (from April 2000 to March 2003), 103 needle biopsies on 101 lesions of 90 patients were performed for pathological evaluation of suspected bone metastasis. The clinical course of these patients prior to biopsy and its relation to the biopsy results were retrospectively reviewed. Sixty-two patients (69% of total cases) were referred for biopsy from orthopedic surgeons, and 51 of these patients consulted orthopedic surgeons on the initial presentation. Malignancy was pathologically proved in 47 (76%) of the 62 orthopedic patients, and in 19 (68%) of the 28 patients referred from other clinicians. Thirteen (21%) of the orthopedic patients had a history of malignancy, while 22 (78%) of the non-orthopedic patients were cancer patients. Metastasis was pathologically proved in 23 (66%) of the 35 patients with a history of malignancy, while malignancy was pathologically proved in 43 (78%) of the 55 patients without known malignancy. Diagnostic accuracy of the needle bone biopsy was 96%, and its complication rate was 0.7%. In the era of CT fluoroscopy, needle biopsy for suspected bone metastasis was most frequently requested for the patients who consulted orthopedic surgeons for the occurrence of local bone pain as the initial symptom of unknown malignancy. Frequency of malignancy proved by the biopsy in those patients was as high as that in the cancer patients referred from other clinicians. (author)

  13. Prevalence and clinical aspects of CMV congenital Infection in a low-income population.

    Science.gov (United States)

    Marin, Lauro Juliano; Santos de Carvalho Cardoso, Emanuelle; Bispo Sousa, Sandra Mara; Debortoli de Carvalho, Luciana; Marques Filho, Marcílio F; Raiol, Mônica Regina; Gadelha, Sandra Rocha

    2016-08-31

    CMV is the most common cause of congenital infection in the whole world (0.2 to 2.2 %). That infection may be symptomatic or asymptomatic at birth and, although asymptomatic cases at birth are more common, some children may develop late sequelae, and require medical intervention. This study aimed to determine the prevalence of CMV congenital infections in children who were born in a public hospital in Ilhéus, Brazil, and to evaluate the clinical progression in infected newborns. CMV congenital infection was determined by detecting viral DNA through nested PCR. The viral DNA was detected in 25 newborns, showing a prevalence of 1.19 % (25/2100) of CMV congenital infection. In regards to the risk factors from mothers, only the variables: age of mothers (p = 0.003), number of children (p = 0.011), and use of medications (p CMV. Late symptoms can be mistaken for other diseases or even go unnoticed.

  14. [Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases].

    Science.gov (United States)

    Enacán, Rosa E; Masnata, María E; Belforte, Fiorella; Papendieck, Patricia; Olcese, María C; Siffo, Sofía; Gruñeiro-Papendieck, Laura; Targovnik, Héctor; Rivolta, Carina M; Chiesa, Ana E

    2017-06-01

    Congenital hypothyroidism affects 1:2000-3000 newborns detected by neonatal screening programs. Dual oxidases, DUOX1 and 2, generate hydrogen peroxide needed for the thyroid hormone synthesis. Hipotiroidismo congénito transitorio por defectos bialélicos del gen DUOX2. Dos casos clínicos Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases Mutations in the DUOX2 gene have been described in transient and permanent congenital hypothyroidism. Two brothers with congenital hypothyroidism detected by neonatal screening with eutopic gland and elevated thyroglobulin are described. They were treated with levothyroxine until it could be suspended in both during childhood, assuming the picture as transient. Organification disorder was confirmed. Both patients were compounds heterozygous for a mutation in exon 9 of the paternal allele (c.1057_1058delTT, p.F353PfsX36 or p.F353fsX388) and in exon 11 of the maternal allele (c.1271T > G, p.Y425X) of DUOX2 gene. Our finding confirms that the magnitude of the defect of DUOX2 is not related to the number of inactivated alleles, suggesting compensatory mechanisms in the peroxide supply. Sociedad Argentina de Pediatría.

  15. Clinical and echocardiographic findings of patients with suspected acute pulmonary thromboembolism who underwent computed tomography pulmonary angiography

    Directory of Open Access Journals (Sweden)

    Atoosa Adibi

    2016-01-01

    Full Text Available Background: The aim of the study was to determine the correlation between clinical and echocardiographic findings and risk factors of patients with suspected acute pulmonary thromboembolism (PTE who underwent computed tomography pulmonary angiography (CTPA. Materials and Methods: In this cross-sectional study, 310 hospitalized patients aged >18 years with high clinical suspicion of PTE referred to imaging center of our hospital from different wards for CTPA were enrolled. The frequency of different clinical presentations, risk factors, items of Wells' criteria, and echocardiographic findings was compared in patients with and without PTE, which have been diagnosed according to the CTPA results. Results: PTE was diagnosed in 53 (17.1% of patients with suspected PTE. From clinical manifestations, tachypnea, pleuritic chest pain, and edema of lower extremities were significantly more frequent among patients with PTE (P < 0.05. Major surgery was the risk factor which was significantly more prevalent among patients with PTE (P < 0.05. Frequency of all criteria of Wells' criteria, except hemoptysis, was significantly higher in patients with PTE (P < 0.05. The frequency of all studied echocardiographic variables was significantly higher in patients with PTE (P < 0.05. Conclusion: It is suggested that we could use the results of this study for utilizing the diagnostic process of PTE in patients with highly clinical suspicion of PTE and providing more validated decision. Using the results of this study, we could identify high-risk patients and made appropriate risk assessment for better management of patients with suspected PTE as well as reduce the rate of unnecessary CTPA and its related adverse consequences.

  16. Clinical Observation of Concomitant Congenital Heart Disease and Anomaly of the Urinary System in Adolescent

    Directory of Open Access Journals (Sweden)

    M.P. Limarenko

    2014-08-01

    Full Text Available The article presents the clinical observation of multiple malformations in a child: combination of congenital heart disease with an anomaly of the urinary system on the background of undifferentiated connective tissue dysplasia syndrome of maximum severity. This case report is of interest to pediatricians. Children with defects of the heart and urinary system often have other malformations, so in these patients it is important to conduct a full multisystem examination.

  17. Value of venous color flow duplex scan as initial screening test for geriatric inpatients with clinically suspected pulmonary embolism

    Directory of Open Access Journals (Sweden)

    Kreidy R

    2011-09-01

    Full Text Available Raghid Kreidy1, Elias Stephan2, Pascale Salameh3, Mirna Waked4 1Department of Vascular Surgery, Saint George Hospital, University Medical Center, University of Balamand, Beirut, Lebanon; 2Department of Geriatrics, Saint George Hospital, University Medical Center, University of Balamand, Beirut, Lebanon; 3Laboratory of Clinical and Epidemiological Research, Faculty of Pharmacy, Lebanese University, 4Department of Pulmonary Medicine, Saint George Hospital, University Medical Center, University of Balamand, Beirut, Lebanon Aim: The contribution of lower extremity venous duplex scan to the diagnostic strategy for pulmonary embolism has been demonstrated by many authors. However, the positive diagnostic value of this noninvasive test in clinically suspected pulmonary embolism is not very high (10%–18%. Since thromboembolic risks increase considerably in hospitalized patients with advanced age, this study aims to determine the importance of lower extremity venous color flow duplex scan in this particular subgroup of patients with clinically suspected pulmonary embolism. The effects of clinical presentation and risk factors on the results of duplex scan have been also studied. Methods: Between July 2007 and January 2010, 95 consecutive Lebanese geriatric ($60 years of age inpatients with clinically suspected pulmonary embolism assessed in an academic tertiary-care center for complete lower extremity venous color flow duplex scan were retrospectively reviewed. Age varied between 60 and 96 years (mean, 79.9 years. Forty patients were males and 55 females. Absence of compressibility was the most important criteria for detecting acute venous thrombosis. Results: Out of 95 patients, 33 patients (34.7% were diagnosed with recent deep venous thrombosis of lower extremities (14 proximal and 19 distal using complete venous ultrasound. Nine of these 33 patients (27.2% had a history of venous thromboembolism and eleven (33.3% presented with edema of lower

  18. [Clinical characteristics and management of infants less than 1-year-old suspected with allergy to cow's milk protein].

    Science.gov (United States)

    Errázuriz, Germán; Lucero, Yalda; Ceresa, Sergio; Gonzalez, Mónica; Rossel, Maureen; Vives, Andrés

    Cow's milk protein allergy (CMPA) is highly prevalent in infants (2-5%). It has a wide clinical spectrum, and confirmation through an oral food challenge (OFC) is relevant for its differential diagnosis. Information on this topic is scarce in Chile. To describe the demographic and clinical features of infants with suspected CMPA. A retrospective study of patients<1 year-old, treated for suspected CMPA between 2009 and 2011. Demographic data, symptoms of atopy, nutrition at the time of diagnosis, CMPA symptoms, diagnostic studies, and response to treatment were recorded. Diet response at least 4 weeks after milk modification, and clinical behavior when suspected foods were added back to the diet were considered standard diagnostic criteria. Descriptive statistics were performed using Epiinfo ™ software. The study included 106 infants, of whom, 51% male, 80% term newborns, 74% with≥1 atopic parent, and 34% with ≥1 parent/sibling with food allergy. The median age at onset of symptoms was 1.5 months (range 1.5-2m). Almost half (46%) were breast-feeding≥6m, with 15% receiving formula milk since the neonatal period, and 49% before the third month. Common symptoms were: vomiting (63%), colic (49%), and bleeding on passing stools (41%). No anaphylaxis was identified, and 61% had≥2 symptoms at debut. Only 34% were subjected to OFC. The most frequently requested tests were, test patch (43%), prick test (40%), and blood in stools (37%). 43% breast feeding with exclusion diet, 24% extensively hydrolysed formula, 26% amino acid formula, and 7% others. Demographic characteristics and risk factors were similar to those previously described in international literature. Clinical presentation was early in life, and digestive symptoms predominated. OFC was underused for diagnosis, and most of the tests requested did not change management. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  19. Abdominal and pelvic CT in cases of suspected abuse: can clinical and laboratory findings guide its use?

    International Nuclear Information System (INIS)

    Trout, Andrew T.; Strouse, Peter J.; Mohr, Bethany A.; Khalatbari, S.; Myles, Jamie D.

    2011-01-01

    Incomplete history and concern for occult injury in suspected child abuse occasionally results in CT screenings of the abdomen and pelvis. At our institution, we noted that these exams were infrequently positive. To identify clinical or laboratory criteria that may predict intra-abdominal injury and guide the use of abdominal and pelvic CT in this population. This retrospective review involved 68 children older than 36 months who had a CT of the abdomen/pelvis for suspected abuse. CT results and patient charts were reviewed for physical exam and historical and laboratory variables. CTs were positive in 16% of patients (11/68). Hypoactive/absent bowel sounds (P = 0.01, specificity = 94.7%) and AST and ALT values greater than twice normal (P = 0.004 and P = 0.003 respectively, NPV = 93.6%) were significantly associated with positive CTs. Multiple abnormal physical exam or laboratory findings were also significantly associated with positive CTs (P = 0.03 and P = 0.002 respectively, specificity = 91.3% and NPV = 93.6% respectively). CTs of the abdomen and pelvis are infrequently positive in cases of suspected abuse. To reduce radiation exposure, CTs should only be ordered if there are findings indicating that they may be positive. In our population, these findings include absent/hypoactive bowel sounds, LFTs greater than twice normal and ≥2 abnormal labs or physical exam findings. (orig.)

  20. Abdominal and pelvic CT in cases of suspected abuse: can clinical and laboratory findings guide its use?

    Energy Technology Data Exchange (ETDEWEB)

    Trout, Andrew T.; Strouse, Peter J. [University of Michigan Health System, C.S. Mott Children' s Hospital, Department of Radiology, Ann Arbor, MI (United States); Mohr, Bethany A. [University of Michigan Health System, C.S. Mott Children' s Hospital, Department of Pediatrics, Ann Arbor, MI (United States); Khalatbari, S.; Myles, Jamie D. [University of Michigan, Michigan Institute for Clinical and Health Research, Ann Arbor, MI (United States)

    2011-01-15

    Incomplete history and concern for occult injury in suspected child abuse occasionally results in CT screenings of the abdomen and pelvis. At our institution, we noted that these exams were infrequently positive. To identify clinical or laboratory criteria that may predict intra-abdominal injury and guide the use of abdominal and pelvic CT in this population. This retrospective review involved 68 children older than 36 months who had a CT of the abdomen/pelvis for suspected abuse. CT results and patient charts were reviewed for physical exam and historical and laboratory variables. CTs were positive in 16% of patients (11/68). Hypoactive/absent bowel sounds (P = 0.01, specificity = 94.7%) and AST and ALT values greater than twice normal (P = 0.004 and P = 0.003 respectively, NPV = 93.6%) were significantly associated with positive CTs. Multiple abnormal physical exam or laboratory findings were also significantly associated with positive CTs (P = 0.03 and P = 0.002 respectively, specificity = 91.3% and NPV = 93.6% respectively). CTs of the abdomen and pelvis are infrequently positive in cases of suspected abuse. To reduce radiation exposure, CTs should only be ordered if there are findings indicating that they may be positive. In our population, these findings include absent/hypoactive bowel sounds, LFTs greater than twice normal and {>=}2 abnormal labs or physical exam findings. (orig.)

  1. Clinical application of quantitative computed tomography in osteogenesis imperfecta-suspected cat.

    Science.gov (United States)

    Won, Sungjun; Chung, Woo-Jo; Yoon, Junghee

    2017-09-30

    One-year-old male Persian cat presented with multiple fractures and no known traumatic history. Marked decrease of bone radiopacity and thin cortices of all long bones were identified on radiography. Tentative diagnosis was osteogenesis imperfecta, a congenital disorder characterized by fragile bone. To determine bone mineral density (BMD), quantitative computed tomography (QCT) was performed. The QCT results revealed a mean trabecular BMD of vertebral bodies of 149.9 ± 86.5 mg/cm 3 . After bisphosphonate therapy, BMD of the same site increased significantly (218.5 ± 117.1 mg/cm 3 , p < 0.05). QCT was a useful diagnostic tool to diagnose osteopenia and quantify response to medical treatment.

  2. Clinical value of FDG-PET/CT in suspected paraneoplastic syndromes: a retrospective analysis of 137 patients

    Energy Technology Data Exchange (ETDEWEB)

    Bjoern Kristensen, Stine; Hess, Soeren; Petersen, Henrik; Hoeilund-Carlsen, Poul Flemming [Odense University Hospital, Department of Nuclear Medicine, Odense (Denmark)

    2015-12-15

    Paraneoplastic syndromes (PNS) are relatively infrequent manifestations appearing before or after a cancer declares itself. Autoimmune mechanisms may be involved, but their cause and pathogenesis are often unknown. Due to disparity of symptoms, PNS remain a major diagnostic challenge. We examined the value of FDG-PET/CT for ruling in or out malignancy in a heterogeneous group of patients with suspected PNS. We retrospectively extracted data from all patients referred 2009-2013 with suspected PNS. Data included age, sex, follow-up period, scan report, further diagnostic procedures, and final clinical diagnosis. Conclusions of the scan reports were compared to the final follow-up outcome as determined during an average follow-up of 31 months (range 6-51.5) in patients who were not diagnosed with cancer in immediate continuation of a positive PET/CT scan. A total of 137 patients were included. Main causes for referral were neurological (n = 67), rheumatological (n = 25), dermatological (n = 18), nephrological (n = 6), haematological (n = 2), abnormal biochemistry (n = 11), and others (n = 8). The cancer prevalence was 8.8 %. The FDG-PET/CT results were as follows: nine true positives, 22 false positives, 103 true negatives, and three false negatives. Corresponding diagnostic values were: sensitivity 75 %, specificity 82 %, accuracy 82 %, and positive and negative predictive values of 29 % and 97 %, respectively. FDG-PET/CT has in patients with suspected PNS an impressively high negative predictive value and may be of value in ruling out PNS, the more so, the more the number of false positives can be minimized or used in differential diagnosis. We believe that FDG-PET/CT may become an important adjunct to the work-up and triage of patients with suspected PNS. (orig.)

  3. Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome

    Directory of Open Access Journals (Sweden)

    Buchanan DD

    2014-10-01

    Full Text Available Daniel D Buchanan,1,2 Christophe Rosty,1,3,4 Mark Clendenning,1 Amanda B Spurdle,5 Aung Ko Win2 1Oncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Parkville, VIC, Australia; 2Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia; 3Envoi Specialist Pathologists, Herston, QLD, Australia; 4School of Medicine, University of Queensland, Herston, QLD, Australia; 5Molecular Cancer Epidemiology Laboratory, Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Herston, QLD, AustraliaAbstract: Carriers of a germline mutation in one of the DNA mismatch repair (MMR genes have a high risk of developing numerous different cancers, predominantly colorectal cancer and endometrial cancer (known as Lynch syndrome. MMR gene mutation carriers develop tumors with MMR deficiency identified by tumor microsatellite instability or immunohistochemical loss of MMR protein expression. Tumor MMR deficiency is used to identify individuals most likely to carry an MMR gene mutation. However, MMR deficiency can also result from somatic inactivation, most commonly methylation of the MLH1 gene promoter. As tumor MMR testing of all incident colorectal and endometrial cancers (universal screening is becoming increasingly adopted, a growing clinical problem is emerging for individuals who have tumors that show MMR deficiency who are subsequently found not to carry an MMR gene mutation after genetic testing using the current diagnostic approaches (Sanger sequencing and multiplex ligation-dependent probe amplification and who also show no evidence of MLH1 methylation. The inability to determine the underlying cause of tumor MMR deficiency in these "Lynch-like" or "suspected Lynch syndrome" cases has significant implications on the clinical management of these individuals and their relatives. When the

  4. Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome).

    Science.gov (United States)

    Buchanan, Daniel D; Rosty, Christophe; Clendenning, Mark; Spurdle, Amanda B; Win, Aung Ko

    2014-01-01

    Carriers of a germline mutation in one of the DNA mismatch repair (MMR) genes have a high risk of developing numerous different cancers, predominantly colorectal cancer and endometrial cancer (known as Lynch syndrome). MMR gene mutation carriers develop tumors with MMR deficiency identified by tumor microsatellite instability or immunohistochemical loss of MMR protein expression. Tumor MMR deficiency is used to identify individuals most likely to carry an MMR gene mutation. However, MMR deficiency can also result from somatic inactivation, most commonly methylation of the MLH1 gene promoter. As tumor MMR testing of all incident colorectal and endometrial cancers (universal screening) is becoming increasingly adopted, a growing clinical problem is emerging for individuals who have tumors that show MMR deficiency who are subsequently found not to carry an MMR gene mutation after genetic testing using the current diagnostic approaches (Sanger sequencing and multiplex ligation-dependent probe amplification) and who also show no evidence of MLH1 methylation. The inability to determine the underlying cause of tumor MMR deficiency in these "Lynch-like" or "suspected Lynch syndrome" cases has significant implications on the clinical management of these individuals and their relatives. When the data from published studies are combined, 59% (95% confidence interval [CI]: 55% to 64%) of colorectal cancers and 52% (95% CI: 41% to 62%) of endometrial cancers with MMR deficiency were identified as suspected Lynch syndrome. Recent studies estimated that colorectal cancer risk for relatives of suspected Lynch syndrome cases is lower than for relatives of those with MMR gene mutations, but higher than for relatives of those with tumor MMR deficiency resulting from methylation of the MLH1 gene promoter. The cause of tumor MMR deficiency in suspected Lynch syndrome cases is likely due to either unidentified germline MMR gene mutations, somatic cell mosaicism, or biallelic somatic

  5. 2013 update on congenital heart disease, clinical cardiology, heart failure, and heart transplant.

    Science.gov (United States)

    Subirana, M Teresa; Barón-Esquivias, Gonzalo; Manito, Nicolás; Oliver, José M; Ripoll, Tomás; Lambert, Jose Luis; Zunzunegui, José L; Bover, Ramon; García-Pinilla, José Manuel

    2014-03-01

    This article presents the most relevant developments in 2013 in 3 key areas of cardiology: congenital heart disease, clinical cardiology, and heart failure and transplant. Within the area of congenital heart disease, we reviewed contributions related to sudden death in adult congenital heart disease, the importance of specific echocardiographic parameters in assessing the systemic right ventricle, problems in patients with repaired tetralogy of Fallot and indication for pulmonary valve replacement, and confirmation of the role of specific factors in the selection of candidates for Fontan surgery. The most recent publications in clinical cardiology include a study by a European working group on correct diagnostic work-up in cardiomyopathies, studies on the cost-effectiveness of percutaneous aortic valve implantation, a consensus document on the management of type B aortic dissection, and guidelines on aortic valve and ascending aortic disease. The most noteworthy developments in heart failure and transplantation include new American guidelines on heart failure, therapeutic advances in acute heart failure (serelaxin), the management of comorbidities such as iron deficiency, risk assessment using new biomarkers, and advances in ventricular assist devices. Copyright © 2013 Sociedad Española de Cardiología. Published by Elsevier Espana. All rights reserved.

  6. The congenital hypothyroidism: the incidence and clinical features of different forms

    Directory of Open Access Journals (Sweden)

    T.V. Sorokman

    2017-04-01

    Full Text Available Background. Congenital hypothyroidism (CH as the most common hereditary thyroid pathology is a serious social, economic and psychological burden for a family, where the sick child was born, as well as for the society. The purpose of our study was to evaluate the disease incidence and to detect the clinical features of various forms of congenital hypothyroidism in children. Materials and methods. Twenty two medical records of patients with CH (14 girls, 8 boys aged 1 month to 6 years (experimental group and 20 healthy children of the correspondent age were analyzed, and the further assessment of their physical and neuropsychological development was conducted. All children underwent the ultrasound examination of the neck region, indirect laryngoscopy; thyroid-stimulating hormone (TSH, thyroglobulin antibodies, free thyroxine (fT4, thyroglobulin tests were also performed. Clinical signs of CH in the neonatal period were estimated according to the Apgar scores. Statistical analysis was performed with the aid of the Statistica 6.0 program. Results. The thyroid dystopia was diagnosed in 59.1 % of cases, in particular: in the hyoid area (5, the root of the tongue (2, submandibular area (2, jugular fossa (1, unspecified (2. The median of TSH in the first stage of screening in children of the main group was 38 mU/l (24.2–122.4 mU/l, in the comparison group — 2.03 mU/l (1.7–2.6 mU/l. The fT4 level ranged from 0.49 to 14.7 pmol/l, on average — 2.37 pmol/l. The number of clinical signs was not dependent on the age neither on the form of hypothyroidism at the moment of diagnosis. With age, children’s development increasingly lags behind those of correspondent age contributing to further development of fine motor delay. In 40.9 % of patients with CH, the relatives suffered from thyroid disease. Conclusions. The thyroid dystopia is the most common among various forms of congenital hypothyroidism (59.1 %. The reliable differences in TSH and fT4 levels

  7. Impact of delay in clinical presentation on the diagnostic management and prognosis of patients with suspected pulmonary embolism.

    Science.gov (United States)

    den Exter, Paul L; van Es, Josien; Erkens, Petra M G; van Roosmalen, Mark J G; van den Hoven, Pim; Hovens, Marcel M C; Kamphuisen, Pieter W; Klok, Frederikus A; Huisman, Menno V

    2013-06-15

    The nonspecific clinical presentation of pulmonary embolism (PE) frequently leads to delay in its diagnosis. This study aimed to assess the impact of delay in presentation on the diagnostic management and clinical outcome of patients with suspected PE. In 4,044 consecutive patients with suspected PE, patients presenting more than 7 days from the onset of symptoms were contrasted with those presenting within 7 days as regards the safety of excluding PE on the basis of a clinical decision rule combined with D-dimer testing. Patients were followed for 3 months to assess the rates of recurrent venous thromboembolism and mortality. A delayed presentation (presentation >7 d) was present in 754 (18.6%) of the patients. The failure rate of an unlikely clinical probability and normal D-dimer test was 0.5% (95% confidence interval [CI], 0.01-2.7) for patients with and 0.5% (95% CI, 0.2-1.2) for those without diagnostic delay. D-dimer testing yielded a sensitivity of 99% (95% CI, 96-99%) and 98% (95% CI, 97-99%) in these groups, respectively. Patients with PE with diagnostic delay more frequently had centrally located PE (41% vs. 26%; P presentation. PE can be safely excluded based on a clinical decision rule and D-dimer testing in patients with a delayed clinical presentation. A delayed presentation for patients who survived acute PE was associated with a more central PE location, although this did not affect the clinical outcome at 3 months.

  8. Congenital cytomegalovirus infection in pregnancy: a review of prevalence, clinical features, diagnosis and prevention.

    Science.gov (United States)

    Naing, Zin W; Scott, Gillian M; Shand, Antonia; Hamilton, Stuart T; van Zuylen, Wendy J; Basha, James; Hall, Beverly; Craig, Maria E; Rawlinson, William D

    2016-02-01

    Human cytomegalovirus (CMV) is under-recognised, despite being the leading infectious cause of congenital malformation, affecting ~0.3% of Australian live births. Approximately 11% of infants born with congenital CMV infection are symptomatic, resulting in clinical manifestations, including jaundice, hepatosplenomegaly, petechiae, microcephaly, intrauterine growth restriction and death. Congenital CMV infection may cause severe long-term sequelae, including progressive sensorineural hearing loss and developmental delay in 40-58% of symptomatic neonates, and ~14% of initially asymptomatic infected neonates. Up to 50% of maternal CMV infections have nonspecific clinical manifestations, and most remain undetected unless specific serological testing is undertaken. The combination of serology tests for CMV-specific IgM, IgG and IgG avidity provide improved distinction between primary and secondary maternal infections. In pregnancies with confirmed primary maternal CMV infection, amniocentesis with CMV-PCR performed on amniotic fluid, undertaken after 21-22 weeks gestation, may determine whether maternofetal virus transmission has occurred. Ultrasound and, to a lesser extent, magnetic resonance imaging are valuable tools to assess fetal structural and growth abnormalities, although the absence of fetal abnormalities does not exclude fetal damage. Diagnosis of congenital CMV infection at birth or in the first 3 weeks of an infant's life is crucial, as this should prompt interventions for prevention of delayed-onset hearing loss and neurodevelopmental delay in affected infants. Prevention strategies should also target mothers because increased awareness and hygiene measures may reduce maternal infection. Recognition of the importance of CMV in pregnancy and in neonates is increasingly needed, particularly as therapeutic and preventive interventions expand for this serious problem. © 2015 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  9. Frequency and Clinical Manifestations of Scabies in Suspected Patients Referred to Health Centers of Kashan, Central Iran (2010 - 2014

    Directory of Open Access Journals (Sweden)

    Sima Rasti

    2017-02-01

    Full Text Available Background Scabies is one of the most common itching contagious skin disorder in the world. The agent of disease is Sarcoptes scabiei. Objectives This study was conducted to determine the frequency and clinical manifestations of S. scabies in suspected patients referred to health centers of Kashan during 2010 - 2014. Methods This cross-sectional study was performed on 129 patients suspected to Sarcoptes scabiei. The demographic and clinical symptoms for each of patients were recorded in questionnaire by interview. A deep skin scrap was prepared and wet smear were prepared using 10% KOH. By observation of each form of Sarcoptes was identified as positive sample. The data were recorded in Spss. ver 16.5 and analyzed by X2 and fisher exact tests. Results The results of this study showed that 28 (21.7 % were Sarcoptes positive. The frequency of sarcoptes was higher in males (23% than females (20.6%. The difference was not statistically significant. The most cases were isolated in spring and winter. Sarcoptes infestation was the most in elderly and patients undergone dialysis. There is significant difference between disease and age group and underlying disease (P = 0.03, P = 0.014; respectively. Erosion or pustule was the most clinical signs in positive cases. Conclusions The results of study showed that the rate of scabies infestation in Kashan is relatively high, and the most cases were in elderly patients. Health education to increase awareness of the families for prevention of scabies was recommended.

  10. Evaluation of laboratory tests for dengue diagnosis in clinical specimens from consecutive patients with suspected dengue in Belo Horizonte, Brazil.

    Science.gov (United States)

    Ferraz, Fernanda Oliveira; Bomfim, Maria Rosa Quaresma; Totola, Antônio Helvécio; Ávila, Thiago Vinícius; Cisalpino, Daniel; Pessanha, José Eduardo Marques; da Glória de Souza, Danielle; Teixeira Júnior, Antônio Lúcio; Nogueira, Maurício Lacerda; Bruna-Romero, Oscar; Teixeira, Mauro Martins

    2013-09-01

    Dengue is a widely spread arboviral disease in tropical and subtropical regions of the world. Dengue fever presents clinical characteristics similar to other febrile illness. Thus laboratory diagnosis is important for adequate management of the disease. The present study was designed to evaluate the diagnostic performance of real-time PCR and serological methods for dengue in a real epidemic context. Clinical data and blood samples were collected from consecutive patients with suspected dengue who attended a primary health care unit in Belo Horizonte, Brazil. Serologic methods and real-time PCR were performed in serum samples to confirm dengue diagnosis. Among the 181 consecutive patients enrolled in this study with suspected dengue, 146 were considered positive by serological criteria (positive NS1 ELISA and/or anti-dengue IgM ELISA) and 138 were positive by real-time PCR. Clinical criteria were not sufficient for distinguishing between dengue and non-dengue febrile illness. The PCR reaction was pre-optimized using samples from patients with known viral infection. It had similar sensitivity compared to NS1 ELISA (88% and 89%, respectively). We also evaluated three commercial lateral flow immunochromatographic tests for NS1 detection (BIOEASY, BIORAD and PANBIO). All three tests showed high sensitivity (94%, 91% and 81%, respectively) for dengue diagnosis. According to our results it can be suggested that lateral flow tests for NS1 detection are the most feasible methods for early diagnosis of dengue. Copyright © 2013 Elsevier B.V. All rights reserved.

  11. Suspected bacterial meningomyelitis: The first presenting clinical feature of neuromyelitis optica spectrum disorder.

    Science.gov (United States)

    Li, Xiang; Lin, Jie; Pan, Sipei; Weng, Yiyun; Li, Jia; Zhang, Xu; Xia, Junhui; Tong, Qiaowen

    2017-08-15

    A rare case of neuromyelitis optica spectrum disorder, suspected to be bacterial meningomyelitis as the initial manifestation, is reported. The patient presented with initial symptoms of meningomyelitis and fever. Cerebrospinal fluid analysis revealed pleocytosis (1280×10 6 /L [98% lymphocytes]) and glucose level of 1.8mmol/L. Magnetic resonance imaging revealed >3 vertebral, longitudinally extensive transverse myelitis and area postrema lesions. Right optic neuritis was experienced 20months after the first attack. Serum anti-aquaporin-4 antibody was positive, and a diagnosis of neuromyelitis optica spectrum disorder was made, supporting the hypothesis that the pathogenesis of neuromyelitis optica is triggered by infection. Copyright © 2017. Published by Elsevier B.V.

  12. Detection of ascitic feline coronavirus RNA from cats with clinically suspected feline infectious peritonitis.

    Science.gov (United States)

    Soma, Takehisa; Wada, Makoto; Taharaguchi, Satoshi; Tajima, Tomoko

    2013-10-01

    Ascitic feline coronavirus (FCoV) RNA was examined in 854 cats with suspected feline infectious peritonitis (FIP) by RT-PCR. The positivity was significantly higher in purebreds (62.2%) than in crossbreds (34.8%) (P<0.0001). Among purebreds, the positivities in the Norwegian forest cat (92.3%) and Scottish fold (77.6%) were significantly higher than the average of purebreds (P=0.0274 and 0.0251, respectively). The positivity was significantly higher in males (51.5%) than in females (35.7%) (P<0.0001), whereas no gender difference has generally been noted in FCoV antibody prevalence, indicating that FIP more frequently develops in males among FCoV-infected cats. Genotyping was performed for 377 gene-positive specimens. Type I (83.3%) was far more predominantly detected than type II (10.6%) (P<0.0001), similar to previous serological and genetic surveys.

  13. Clinical evaluation of diuretic renography in infants and children with congenital urinary abnormality

    International Nuclear Information System (INIS)

    Li Jingsong; Li Jianing; Fu Hongliang; Zou Renjian; Wu Jingchuan

    2006-01-01

    Objective: The clinical application of furosemide plus 15-minute diuretic renography (F+15 DR) was evaluated in infants and children with congenital urinary abnormalities. Methods: In 163 patients with different congenital urinary abnormalities undergoing F+15 DR, 97 were operated and followed by F+15 DR reexamination. The DR imaging characteristics were analyzed and, based on those analyses, hydronephrosis was classified into five degrees. Follow-up data were analyzed both quantitatively and qualitatively. Results: Each renal abnormality (kidney duplication 60, horseshoe kidney 6, multiple cysts of kidney 5, hypoplasia 35, ureterocele 20, displacement of ureter opening 13, megaloureter 20, valve of ureter 26) exhibited its unique characteristics on DR imaging. Renal functions of those patients were improved dur- ing the follow-up after surgical operations. Patients with duplex kidney and ureter abnormalities had better prognosis than those with urethral valve. Conclusion: F + 15 DR imaging may reveal characteristic changes of congenital urinary abnormalities and helps in the qualitative or quantitative evaluation of the treatments. (authors)

  14. Identification of MSH2 inversion of exons 1-7 in clinical evaluation of families with suspected Lynch syndrome.

    Science.gov (United States)

    Mork, Maureen E; Rodriguez, Andrea; Taggart, Melissa W; Rodriguez-Bigas, Miguel A; Lynch, Patrick M; Bannon, Sarah A; You, Y Nancy; Vilar, Eduardo

    2017-07-01

    Traditional germline sequencing and deletion/duplication analysis does not detect Lynch syndrome-causing mutations in all individuals whose colorectal or endometrial tumors demonstrate mismatch repair (MMR) deficiency. Unique inversions and other rearrangements of the MMR genes have been reported in families with Lynch syndrome. In 2014, a recurrent inversion of MSH2 exons 1-7 was identified in five families suspected to have Lynch syndrome. We aimed to describe our clinical experience in identifying families with this specific inversion. Four probands whose Lynch syndrome-associated tumors demonstrated absence of MSH2/MSH6 staining and who had negative MMR germline testing were evaluated for the MSH2 inversion of exons 1-7, offered during initial genetic workup or upon routine clinical follow-up. All four probands tested positive for the MSH2 inversion. Proband cancer diagnoses included colon and endometrial adenocarcinoma and sebaceous adenoma. A variety of Lynch syndrome-associated cancers were reported in the family histories, although only one family met Amsterdam II criteria. Thirteen at-risk relatives underwent predictive testing. MSH2 inversion of exons 1-7 was found in four probands previously suspected to have Lynch syndrome based on family history and tumor testing. This testing should be offered routinely to patients with tumors demonstrating loss of MSH2/MSH6 staining.

  15. Validity of colour doppler ultrasonography with d-dimers in clinically suspected deep venous thrombosis of the lower limb

    International Nuclear Information System (INIS)

    Babar, T.H.; Nafees, M.N.; Sarwar, S.; Ashraf, N.

    2010-01-01

    Objective: This study was designed to evaluate the validity of colour Doppler ultrasonography with D-dimers in clinically suspected deep venous thrombosis of the lower limb. Study Design: Validation study Place and Duration of study: Radiology Department CMH/MH Rawalpindi Six months from 15 June 2006 to 31 December 2006. Subjects and Methods: Thirty cases of clinically suspected deep venous thrombosis of the lower limb were included in the study selected on non probability convenience sampling technique. Colour Doppler ultrasonography examination of the affected lower limb was carried out and results compared with D-dimers assays results. Results: Among 30 patients who underwent colour Doppler ultrasonography examination of the affected limb for diagnosis of deep venous thrombosis, 27 (90%) were diagnosed to have deep venous thrombosis, 3 (10%) were diagnosed not to have deep venous thrombosis. Amongst them 2 patients had raised D-dimers levels and repeat Doppler ultrasound advised. On revised ultrasound deep venous thrombosis in these patients was confirmed. This showed that colour Doppler ultrasonography examination has sensitivity of 93.1%, specificity 100%, positive predictive value 100%, negative predictive value 33.33% and overall accuracy of 93.33 %. Conclusion: Colour Doppler ultrasonography has a high diagnostic yield in cases of deep venous thrombosis of lower limb when used in conjunction with D-dimers assays. (author)

  16. Pattern and Diagnosis of Congenital Heart Disease in Patients ...

    African Journals Online (AJOL)

    Objective: To study the pattern of Congenital Heart Diseases (CHD) in children referred to Ahmed Gasim Cardiac Center) in Khartoum. Methods: This is a prospective cross-sectional, clinic based study conducted over a six months period. The children were referred to the Cardiac Centre because of suspected heart ...

  17. PROBLEM OF DIAGNOSIS OF EARLY CONGENITAL SYPHILIS

    Directory of Open Access Journals (Sweden)

    G. P. Martynova

    2013-01-01

    Full Text Available The paper presents a case of delayed diagnosis of early congenital syphilis in a child whose mother was observed in prenatal clinic starting from the 14th week of pregnancy. The child had specific skin rash already in maternity. The child was discharged home without examination in the hospital. Only manifestations of nephritis lead to admission of the child into an inpatient hospital. Only at the age of 1 month and 23 days the child was suspected of early congenital syphilis with severe polisimptomnym, and the patient was transferred to specialized hospital. 

  18. Early image acquisition after administration of indium-111 platelets in clinically suspected deep venous thrombosis

    International Nuclear Information System (INIS)

    Farlow, D.C.; Ezekowitz, M.D.; Rao, S.R.; Martinez, C.; Denny, D.F.; Morse, S.S.; Decho, J.S.; Wackers, F.; Strauss, E.

    1989-01-01

    Indium-111 platelet scintigraphy accurately detects acute deep venous thrombosis in asymptomatic high-risk patients and may be used as a surveillance test. However, its value in symptomatic patients and its accuracy early after platelet injection are not satisfactorily established. The latter is important for timely institution of therapy. Accordingly, 65 patients (67 limbs) with suspected deep venous thrombosis (symptom duration 8 +/- 10 days, mean +/- standard deviation) were prospectively studied with platelet scintigraphy and contrast venography. Platelets were labeled with 405 +/- 101 mCi indium-111 oxine. The labeling efficiency was 80 +/- 10%. All images were acquired within 120 minutes after intravenous administration of the platelet suspension. Both platelet scintigraphy and venography were interpreted independently by 2 blinded observers (for each technique). Five separate analyses were performed. Each scintigraphic reader was compared to each venographic reader. A fifth analysis--consisting of readings with blinded agreement of both readings of the platelet scans and both readings of the venograms--was performed. Interobserver agreement was 92% for venography and 79% for scintigraphy. Excluding anticoagulated patients, the sensitivity of platelet scintigraphy was between 38 and 46% and the specificity was between 92 and 100%. Thus, early imaging of labeled platelets for the diagnosis of symptomatic deep venous thrombosis carries a high specificity but a much lower sensitivity. It is speculated that the low sensitivity is related to the inactivity of the thrombus. This may suggest that early imaging will only be useful in patients whose symptoms are of recent onset

  19. Utility of MRCP in clinical decision making of suspected choledocholithiasis: An institutional analysis and literature review.

    Science.gov (United States)

    Badger, Wesley R; Borgert, Andrew J; Kallies, Kara J; Kothari, Shanu N

    2017-08-01

    The ideal treatment algorithm for suspected choledocholithiasis is not yet well defined. Imaging options include magnetic resonance cholangiopancreatography (MRCP), endoscopic retrograde cholangiopancreatography (ERCP), and intraoperative cholangiogram (IOC). MRCP is diagnostic, while the other two modalities can also be therapeutic. Each of these modalities for diagnosis and treatment carries its own set of risks, benefits, and institutional costs. We hypothesized that there would be a significant difference between the biochemical profiles and characteristics of patients who undergo ERCP vs. MRCP vs. operative intervention as the initial choice of treatment/imaging modality. We performed a retrospective review of the electronic medical records for all patients with a coded diagnosis of choledocholithiasis from 2011 to 2014. The initial diagnostic modality was assessed for each hospital encounter. The statistical characteristics of MRCP as compared to fluoroscopic imaging of the biliary tree (ERCP, IOC) were analyzed. Overall, 527 hospital encounters were identified. Initial intervention included ERCP in 63%, MRCP in 12%, and cholecystectomy in 25% of patients. Patients undergoing cholecystectomy first, compared to MRCP or ERCP, tended to have lower values for alkaline phosphatase (P utility in this patient population should be questioned. Further research is needed to better define the pretest characteristics which would predict which patients do not need further intervention after MRCP as well as defining the most cost-effective strategy. Copyright © 2016 Elsevier Inc. All rights reserved.

  20. First report of suspected ethylene glycol poisoning in 2 dogs in South Africa : clinical communication

    Directory of Open Access Journals (Sweden)

    N. Keller

    2005-06-01

    Full Text Available Ethylene glycol (anti-freeze toxicity is a serious emergency in both veterinary and human medicine. Ethylene glycol (E/G is the active anti-freeze principle in radiator water additives. It is odourless, colourless and has a sweet taste. As little as 5 mℓ or 20 mℓ is sufficient to kill a cat or a dog, respectively. Ethylene glycol is rapidly absorbed and metabolised in the liver to oxalate, which is deposited as calcium oxalate in the kidneys causing irreversible damage. This report describes 2 dogs that were suspected to have ingested ethylene glycol. The report contains a description of the 3 stages of ethylene glycol toxicity as well as a short discussion of the treatment. Public awareness about the dangers of anti-freeze will help in limiting exposure of pets and humans to this potentially fatal toxin. Veterinarians need to be aware of anti-freeze toxicity as delayed recognition and treatment will lead to the death of the patient.

  1. [Congenital cystic lung lesions--review of the literature with three clinical cases].

    Science.gov (United States)

    Slancheva, B; Hitrova, S; Markov, D; Vakrilova, L; Pramatarova, T; Yarukova, N; Brankov, O

    2013-01-01

    Congenital cystic lung lesions are rare. Mainly affects the lower respiratory patishta.i are congenital cystic malformation and adematozna bronchopulmonary sequestration (BPS). The pathogenesis of the occurrence of these malformations is not clear but they have a common clinical course. In most cases, the anomaly is asymptomatic and occurs with infections of the lung during the first year of life. Currently congenital lung lesions were classified into five types and is considered by most authors. The anomaly is due to the abnormal proliferation of terminal bronchioles accompanied by inhibition of alveolar development between 7-17 weeks, obstructed airway dysplasia and metaplasia of normal lung tissue. Early diagnosis is vital in making a medical decision on how to treat CCAM. Associated with abnormalities of the urinary tract, cardiovascular system, gastrointestinal atresia, diaphragmatic hernia skeletal abnormalities. In pregnancies in which prenatal lung lesions weighs registered necessary series of ultrasound examinations to track finding and using the Doppler to assess how the blood supply of the fault. The clinical presentation of malformations is respiratory distress, respiratory infection, and dyspnea. The use of CT and MRA allows better visualization of the pulmonary lesions. With its combination with arteriography and bronchoscopy are used to differentiate CCAM and pulmonary sequestration. We present three cases with lung lesions were born in Neonatologia clinic at the University Hospital of Obstetrics and Gynecology "Maternity" Sofia for the period 2010-2012 three cases CCAMs type 1, operated by 5 meters after birth with a good final outcome without complications in the postoperative period and lack of pulmonary symptoms up to 1 year after birth.

  2. Interruption or congenital stenosis of the inferior vena cava: Prevalence, imaging, and clinical findings

    International Nuclear Information System (INIS)

    Koc, Zafer; Oguzkurt, Levent

    2007-01-01

    Objective: To present the prevalence, clinical, and imaging findings of interruption or congenital stenotic lesions of the inferior vena cava (IVC), associated malformations, and their clinical relevance. Materials and methods: Between March 2004 and March 2006, 7972 patients who had undergone consecutive routine abdominal multidetector row computed tomography were analyzed for interruption or stenotic lesion of the IVC. Results: Prevalence of interruption (n = 8) or congenital stenosis (n = 4) of the IVC occurred in 12 (0.15%) of 7972 patients. Four patients with interruption and four patients with congenital stenosis of the IVC were symptomatic with DVT (n = 4), leg swelling (n = 4), leg pain (n = 2), lower extremity varices (n = 2), hepatic vein thrombosis (n = 1), and hematochezia (n = 1). All four of the asymptomatic patients were from the interruption group, and these patients had interrupted IVC with well-developed azygos/hemiazygos continuation. Eight symptomatic patients did not have a well-developed azygos/hemiazygos continuation, and drainage of lower extremity was mainly from collateral veins. Additional findings in eight symptomatic patients were abdominal venous collaterals (n = 8), venous aneurysm (n = 2), lower extremity varices (n = 2), varicocele (n = 2), and pelvic varices (n = 1). Conclusion: Interruption or stenosis of the IVC are rare on routine abdominal CT examinations and may cause different clinical findings depending on the variant drainage patterns or collaterals. Interrupted IVC is commonly asymptomatic if associated with well-developed azygos/hemiazygos continuation, whereas commonly symptomatic if well-developed azygos/hemiazygos continuation is not present

  3. Clinical validity of a normal pulmonary angiogram in patients with suspected pulmonary embolism - A critical review

    International Nuclear Information System (INIS)

    Beek, Edwin J.R. van; Brouwers, Elise M.J.; Song Bin; Stein, Paul D.; Oudkerk, Matthijs

    2001-01-01

    AIM: To determine the validity of a normal pulmonary angiogram in the exclusion of pulmonary embolism (PE), based on the safety of withholding anticoagulant therapy in patients with a normal pulmonary angiogram. MATERIALS AND METHODS: A review of English reports published between 1965 and April 1999 was carried out. Eligible articles described prospective studies in patients with suspected PE and a normal pulmonary angiogram, who remained untreated and were followed-up for a minimum of 3 months. Articles were evaluated by two authors, using pre-defined criteria for strength of design. End points consisted of fatal and non-fatal recurrent thromboembolic events. A sensitivity analysis was performed, by removing one study at a time from the overall results and by comparing pre- and post-1990 publications. RESULTS: Among 1050 patients in eight articles included in the analysis, recurrent thromboembolic events were described in 18 patients (1.7% 95% CI: 1.0-2.7%). These were fatal in three patients (0.3% 95% CI: 0.02-0.7%). The recurrence rate of PE decreased from 2.9% (95% CI: 1.4-6.8%) before 1990 to 1.1% (95% CI: 0.5-2.2%) after 1990. CONCLUSION: It would appear that the ability to exclude PE by angiography has improved over the years, as indicated by recurrence rate of PE. The low recurrence rate of PE supports the validity of a normal pulmonary angiogram for the exclusion of PE. Beek, E.J.R. van et al. (2001)

  4. Fluid Distribution Pattern in Adult-Onset Congenital, Idiopathic, and Secondary Normal-Pressure Hydrocephalus: Implications for Clinical Care.

    Science.gov (United States)

    Yamada, Shigeki; Ishikawa, Masatsune; Yamamoto, Kazuo

    2017-01-01

    In spite of growing evidence of idiopathic normal-pressure hydrocephalus (NPH), a viewpoint about clinical care for idiopathic NPH is still controversial. A continuous divergence of viewpoints might be due to confusing classifications of idiopathic and adult-onset congenital NPH. To elucidate the classification of NPH, we propose that adult-onset congenital NPH should be explicitly distinguished from idiopathic and secondary NPH. On the basis of conventional CT scan or MRI, idiopathic NPH was defined as narrow sulci at the high convexity in concurrent with enlargement of the ventricles, basal cistern and Sylvian fissure, whereas adult-onset congenital NPH was defined as huge ventricles without high-convexity tightness. We compared clinical characteristics and cerebrospinal fluid distribution among 85 patients diagnosed with idiopathic NPH, 17 patients with secondary NPH, and 7 patients with adult-onset congenital NPH. All patients underwent 3-T MRI examinations and tap-tests. The volumes of ventricles and subarachnoid spaces were measured using a 3D workstation based on T2-weighted 3D sequences. The mean intracranial volume for the patients with adult-onset congenital NPH was almost 100 mL larger than the volumes for patients with idiopathic and secondary NPH. Compared with the patients with idiopathic or secondary NPH, patients with adult-onset congenital NPH exhibited larger ventricles but normal sized subarachnoid spaces. The mean volume ratio of the high-convexity subarachnoid space was significantly less in idiopathic NPH than in adult-onset congenital NPH, whereas the mean volume ratio of the basal cistern and Sylvian fissure in idiopathic NPH was >2 times larger than that in adult-onset congenital NPH. The symptoms of gait disturbance, cognitive impairment, and urinary incontinence in patients with adult-onset congenital NPH tended to progress more slowly compared to their progress in patients with idiopathic NPH. Cerebrospinal fluid distributions and

  5. Clinical Outcomes of Splenectomy in Children: Report of the Splenectomy in Congenital Hemolytic Anemia (SICHA) Registry

    Science.gov (United States)

    Rice, Henry E; Englum, Brian R; Rothman, Jennifer; Leonard, Sarah; Reiter, Audra; Thornburg, Courtney; Brindle, Mary; Wright, Nicola; Heeney, Matthew M; Smithers, Charles; Brown, Rebeccah L; Kalfa, Theodosia; Langer, Jacob C; Cada, Michaela; Oldham, Keith T; Scott, J Paul; St. Peter, Shawn; Sharma, Mukta; Davidoff, Andrew M.; Nottage, Kerri; Bernabe, Kathryn; Wilson, David B; Dutta, Sanjeev; Glader, Bertil; Crary, Shelley E; Dassinger, Melvin S; Dunbar, Levette; Islam, Saleem; Kumar, Manjusha; Rescorla, Fred; Bruch, Steve; Campbell, Andrew; Austin, Mary; Sidonio, Robert; Blakely, Martin L

    2014-01-01

    The outcomes of children with congenital hemolytic anemia (CHA) undergoing total splenectomy (TS) or partial splenectomy (PS) remain unclear. In this study, we collected data from 100 children with CHA who underwent TS or PS from 2005–2013 at 16 sites in the Splenectomy in Congenital Hemolytic Anemia (SICHA) consortium using a patient registry. We analyzed demographics and baseline clinical status, operative details, and outcomes at 4, 24, and 52 weeks after surgery. Results were summarized as hematologic outcomes, short-term adverse events (AEs) (≤ 30 days after surgery), and long-term AEs (31–365 days after surgery). For children with hereditary spherocytosis, after surgery there was an increase in hemoglobin (baseline 10.1 ± 1.8 gm/dl, 52 week 12.8 ± 1.6 gm/dl; mean ± SD), decrease in reticulocyte and bilirubin as well as control of symptoms. Children with sickle cell disease had control of clinical symptoms after surgery, but had no change in hematologic parameters. There was an 11% rate of short-term AEs and 11% rate of long-term AEs. As we accumulate more subjects and longer follow-up, use of a patient registry should enhance our capacity for clinical trials and engage all stakeholders in the decision-making process. PMID:25382665

  6. Symptomatology, Clinical Presentation and Basic Work up in Patients with Suspected Pulmonary Embolism

    DEFF Research Database (Denmark)

    Madsen, Poul Henning; Hess, Søren

    2017-01-01

    Basic knowledge of pulmonary embolism is relevant to most practicing physicians. Many medical specialties care for patients with increased risk of pulmonary embolism, why recognition of relevant symptoms, a thorough medical history, assessment of the clinical condition of the patient and possibly......-ray and biochemical analyses are appropriate. In addition, lung ultrasound and echocardiography are indicated in many of these patients. The information available from the medical history, clinical assessment and basic investigation form the basis on which the decision about further diagnostic imaging and intensity...... of treatment and monitoring can be made. These decisions can be guided by clinical scoring systems like the Wells score, revised Geneva score and the PESI....

  7. The clinical utility of FDG PET/CT among solid organ transplant recipients suspected of malignancy or infection

    Energy Technology Data Exchange (ETDEWEB)

    Wareham, Neval E.; Lundgren, J.D. [Rigshospitalet, Centre for Health and Infectious Disease Research (CHIP), Department of Infectious Diseases, Copenhagen (Denmark); Cunha-Bang, C. da; Sengeloev, H. [Rigshospitalet, Department of Haematology, Copenhagen (Denmark); Gustafsson, F.; Iversen, M. [Rigshospitalet, Department of Cardiology, Copenhagen (Denmark); Johannesen, H.H.; Kjaer, A.; Fischer, B.M. [Rigshospitalet, Department of Clinical Physiology, Nuclear Medicine and PET, Copenhagen (Denmark); Rasmussen, A. [Rigshospitalet, Department of Surgical Gastroenterology, Copenhagen (Denmark); Soerensen, S.S. [Rigshospitalet, Department of Nephrology, Copenhagen (Denmark)

    2017-03-15

    Solid organ transplant (SOT) recipients are at high risk of developing infections and malignancies. {sup 18}F-FDG PET/CT may enable timely detection of these diseases and help to ensure early intervention. We aimed to describe the clinical utility of FDG PET/CT in consecutive, diagnostic unresolved SOT recipients transplanted from January 2004 to May 2015. Recipients with a post-transplant FDG PET/CT performed as part of diagnostic work-up were included. Detailed chart reviews were done to extract relevant clinical information and determine the final diagnosis related to the FDG PET/CT. Based on a priori defined criteria and the final diagnosis, results from each scan were classified as true or false, and diagnostic values determined. Among the 1,814 recipients in the cohort, 145 had an FDG PET/CT performed; 122 under the indication of diagnostically unresolved symptoms with a suspicion of malignancy or infection. The remaining (N = 23) had an FDG PET/CT to follow-up on a known disease or to stage a known malignancy. The 122 recipients underwent a total of 133 FDG PET/CT scans performed for a suspected malignancy (66 %) or an infection (34 %). Sensitivity, specificity, and positive and negative predictive values of the FDG PET/CT in diagnosing these conditions were 97, 84, 87, and 96 %, respectively. FDG PET/CT is an accurate diagnostic tool for the work-up of diagnostic unresolved SOT recipients suspected of malignancy or infection. The high sensitivity and NPV underlines the potential usefulness of PET/CT for excluding malignancy or focal infections in this often complex clinical situation. (orig.)

  8. The clinical utility of FDG PET/CT among solid organ transplant recipients suspected of malignancy or infection

    International Nuclear Information System (INIS)

    Wareham, Neval E.; Lundgren, J.D.; Cunha-Bang, C. da; Sengeloev, H.; Gustafsson, F.; Iversen, M.; Johannesen, H.H.; Kjaer, A.; Fischer, B.M.; Rasmussen, A.; Soerensen, S.S.

    2017-01-01

    Solid organ transplant (SOT) recipients are at high risk of developing infections and malignancies. 18 F-FDG PET/CT may enable timely detection of these diseases and help to ensure early intervention. We aimed to describe the clinical utility of FDG PET/CT in consecutive, diagnostic unresolved SOT recipients transplanted from January 2004 to May 2015. Recipients with a post-transplant FDG PET/CT performed as part of diagnostic work-up were included. Detailed chart reviews were done to extract relevant clinical information and determine the final diagnosis related to the FDG PET/CT. Based on a priori defined criteria and the final diagnosis, results from each scan were classified as true or false, and diagnostic values determined. Among the 1,814 recipients in the cohort, 145 had an FDG PET/CT performed; 122 under the indication of diagnostically unresolved symptoms with a suspicion of malignancy or infection. The remaining (N = 23) had an FDG PET/CT to follow-up on a known disease or to stage a known malignancy. The 122 recipients underwent a total of 133 FDG PET/CT scans performed for a suspected malignancy (66 %) or an infection (34 %). Sensitivity, specificity, and positive and negative predictive values of the FDG PET/CT in diagnosing these conditions were 97, 84, 87, and 96 %, respectively. FDG PET/CT is an accurate diagnostic tool for the work-up of diagnostic unresolved SOT recipients suspected of malignancy or infection. The high sensitivity and NPV underlines the potential usefulness of PET/CT for excluding malignancy or focal infections in this often complex clinical situation. (orig.)

  9. Clinical feasibility of two-step streptavidin/111In-biotin scintigraphy in patients with suspected vertebral osteomyelitis

    International Nuclear Information System (INIS)

    Lazzeri, Elena; Erba, Paola A.; Volterrani, Duccio; Bottoni, Antonio; Mariani, Giuliano; Pauwels, Ernest K.J.; Manca, Mario; Bodei, Lisa; Trippi, Donatella; Cristofani, Renza; Consoli, Vincenzo; Palestro, Christopher J.

    2004-01-01

    Streptavidin accumulates at sites of inflammation and infection as a result of increased capillary permeability. In addition to being utilised by bacteria for their own growth, biotin forms a stable, high-affinity non-covalent complex with avidin. The objective of this investigation was to determine the diagnostic performance of two-step streptavidin/ 111 In-biotin imaging for evaluating patients with suspected vertebral osteomyelitis. We evaluated 55 consecutive patients with suspected vertebral osteomyelitis (34 women and 21 men aged 27-86 years), within 2 weeks after the onset of clinical symptoms. Thirty-two of the patients underwent magnetic resonance imaging (MRI) and 24, computed tomography (CT). DTPA-conjugated biotin was radiolabelled by incubating 500 μg of DTPA-biotin with 111 MBq of 111 In-chloride. Two-step scintigraphy was performed by first infusing 3 mg streptavidin intravenously, followed 4 h later by 111 In-biotin. Imaging was begun 60 min later. Streptavidin/ 111 In-biotin scintigraphy was positive in 32/34 patients with spinal infection (94.12% sensitivity). The study was negative in 19/21 patients without infection (95.24% specificity). The corresponding results for MRI and CT were 54.17% and 35.29% (sensitivity), and 75% and 57.14% (specificity), respectively. All statistical parameters of diagnostic performance (Youden's J index, kappa measure of agreement with correct classification, accuracy, sensitivity, specificity, positive likelihood and negative likelihood) were clearly better for streptavidin/ 111 In-biotin scintigraphy than for either MRI or CT. Streptavidin/ 111 In-biotin scintigraphy is highly sensitive and specific for detecting vertebral osteomyelitis in the first 2 weeks after the onset of clinical symptoms, and is potentially very useful for guiding clinical decisions on instituting appropriate therapy. (orig.)

  10. Use of global assays to understand clinical phenotype in congenital factor VII deficiency.

    Science.gov (United States)

    Greene, L A; Goldenberg, N A; Simpson, M L; Villalobos-Menuey, E; Bombardier, C; Acharya, S S; Santiago-Borrero, P J; Cambara, A; DiMichele, D M

    2013-09-01

    Congenital factor VII (FVII) deficiency is characterized by genotypic variability and phenotypic heterogeneity. Traditional screening and factor assays are unable to reliably predict clinical bleeding phenotype and guide haemorrhage prevention strategy. Global assays of coagulation and fibrinolysis may better characterize overall haemostatic balance and aid in haemorrhagic risk assessment. We evaluated the ability of novel global assays to better understand clinical bleeding severity in congenital FVII deficiency. Subjects underwent central determination of factor VII activity (FVII:C) as well as clot formation and lysis (CloFAL) and simultaneous thrombin and plasmin generation (STP) global assay analysis. A bleeding score was assigned to each subject through medical chart review. Global assay parameters were analysed with respect to bleeding score and FVII:C. Subgroup analyses were performed on paediatric subjects and subjects with FVII ≥ 1 IU dL(-1). CloFAL fibrinolytic index (FI2 ) inversely correlated with FVII:C while CloFAL maximum amplitude (MA) and STP maximum velocity of thrombin generation (VT max) varied directly with FVII:C. CloFAL FI2 directly correlated with bleeding score among subjects in both the total cohort and paediatric subcohort, but not among subjects with FVII ≥ 1 IU dL(-1) . Among subjects with FVII ≥ 1 IU dL(-1), STP time to maximum velocity of thrombin generation and time to maximum velocity of plasmin generation inversely correlated with bleeding score. These preliminary findings suggest a novel potential link between a hyperfibrinolytic state in bleeding severity and congenital FVII deficiency, an observation that should be further explored. © 2013 John Wiley & Sons Ltd.

  11. Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain.

    Science.gov (United States)

    Zhang, Stella; Malik Sharif, Saghira; Chen, Ya-Chun; Valente, Enza-Maria; Ahmed, Mushtaq; Sheridan, Eamonn; Bennett, Christopher; Woods, Geoffrey

    2016-08-01

    Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or malfunction of, nociceptors. PRDM12 has recently been identified as a new gene that can cause CIP. The full phenotype and natural history have not yet been reported. We have ascertained five adult patients and report their clinical features. Based on our findings, and those of previous patients, we describe the natural history of the PRDM12-CIP disorder, and derive diagnostic and management features to guide the clinical management of patients. PRDM12-CIP is a distinct and diagnosable disorder, and requires specific clinical management to minimise predictable complications. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  12. Clinical Utility of a Precision Medicine Test Evaluating Outpatients with Suspected Obstructive Coronary Artery Disease.

    Science.gov (United States)

    Ladapo, Joseph A; Budoff, Matt; Sharp, David; Zapien, Michael; Huang, Lin; Maniet, Bruce; Herman, Lee; Monane, Mark

    2017-04-01

    Identifying patients with obstructive coronary artery disease can be challenging for primary care physicians. Advances in precision medicine may help augment clinical tools and redefine the paradigm for evaluating coronary artery disease in the outpatient setting. A blood-based age/sex/gene expression score (ASGES) incorporating key features of precision medicine has shown clinical validity with a 96% negative predictive value and 89% sensitivity in estimating a symptomatic patient's current likelihood of obstructive coronary artery disease. To better characterize the clinical utility of the ASGES and measure its impact on clinician decision-making, a community-based registry was established. The prospective PRESET Registry (NCT01677156) enrolled stable, nonacute adult patients presenting with typical or atypical symptoms suggestive of obstructive coronary artery disease from 21 US primary care practices from August 2012 to August 2014. Demographics, clinical characteristics, and ASGES results (predefined as low [ASGES ≤15] or elevated [ASGES >15]) were collected, as were referrals to Cardiology or further functional/anatomic cardiac testing after ASGES testing. Patients were followed for 1 year post ASGES testing. Among the 566-patient cohort (median age 56 years), clinicians referred 26/252 (10%) of patients with low scores vs 137/314 (44%) of patients with elevated scores to Cardiology or advanced cardiac testing for further evaluation (unadjusted odds ratio 0.15, P precision medicine in the delivery of cardiovascular care. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  13. The value of the clinical geneticist caring for adults with congenital heart disease: diagnostic yield and patients' perspective

    NARCIS (Netherlands)

    van Engelen, Klaartje; Baars, Marieke J. H.; Felix, Joyce P.; Postma, Alex V.; Mulder, Barbara J. M.; Smets, Ellen M. A.

    2013-01-01

    For adult patients with congenital heart disease (CHD), knowledge about the origin and inheritance of their CHD is important. Clinical geneticists may play a significant role in their care. We explored the diagnostic yield of clinical genetic consultation of adult CHD patients, patients' motivations

  14. The diagnostic value of the fibrinogen/fibrin fragment E antigen assay in clinically suspected deep vein thrombosis

    International Nuclear Information System (INIS)

    Zielinsky, A.; Hirsh, J.; Straumanis, G.; Carter, C.J.; Gent, M.; Sackett, D.L.; Hull, R.; Kelton, J.G.; Powers, P.; Turpie, A.G.

    1982-01-01

    We have evaluated the fibrinogen/fibrin fragment E antigen assay as a diagnostic test in patients with clinically suspected venous thrombosis by comparing the results of this assay with venography in 272 patients. The result of the fragment E antigen assay was elevated in 79 of 80 patients with positive venograms for recent venous thrombosis (sensitivity 99%) and within the normal range in 161 of 192 patients with normal venograms (specificity 84%). The fragment E assay was also evaluated in 130 medical and surgical controls without evidence of venous thrombosis by leg scanning and the test was found to be relatively nonspecific. However, in the patient group under study, a correct clinical diagnosis of no thrombosis, based on a normal fragment E result, was made in 161 of 162 cases (negative predictive value of 99%). Therefore, a normal test result effectively excludes a diagnosis of venous thrombosis in clinically symptomatic patients. The assay, as currently performed, is technically demanding and takes 24 hr to complete. Therefore, it will have to be simplified before it can be applied to clinical practice

  15. The diagnostic value of the fibrinogen/fibrin fragment E antigen assay in clinically suspected deep vein thrombosis

    International Nuclear Information System (INIS)

    Zielinsky, A.; Hirsh, J.; Straumanis, G.; Carter, C.J.; Gent, M.; Sackett, D.L.; Hull, R.; Kelton, J.G.; Powers, P.

    1982-01-01

    We have evaluated the fibrinogen/fibrin fragment E antigen assay as a diagnostic test in patients with clinically suspected venous thrombosis by comparing the results of this assay with venography in 272 patients. The result of the fragment E antigen assay was elevated in 79 of 80 patients with positive venograms for recent venous thrombosis (sensitivity 99%) and within the normal range in 161 of 192 patients with normal venograms (specificity 84%). The fragment E assay was also evaluated in 130 medical and surgical controls without evidence of venous thrombosis by leg scanning and the test was found to be relatively nonspecific. However, in the patient group under study, a correct clinical diagnosis of no thrombosis, based on a normal fragment E result, was made in 161 of 162 cases (negative predictive value 99%). Therefore, a normal test result effectively excludes a diagnosis of venous thrombosis in clinically symptomatic patients. The assay, as currently performed, is technically demanding and takes 24 hr to complete. Therefore, it will have to be simplified before it can be applied to clinical practice

  16. Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy.

    Directory of Open Access Journals (Sweden)

    Yadi Li

    Full Text Available Leber hereditary optic neuropathy (LHON and dominant optic atrophy (DOA, the most common forms of hereditary optic neuropathy, are easily confused, and it is difficult to distinguish one from the other in the clinic, especially in young children. The present study was designed to survey the mutation spectrum of common pathogenic genes (OPA1, OPA3 and mtDNA genes and to analyze the genotype-phenotype characteristics of Chinese patients with suspected childhood-onset hereditary optic neuropathy. Genomic DNA and clinical data were collected from 304 unrelated Chinese probands with suspected hereditary optic neuropathy with an age of onset below 14 years. Sanger sequencing was used to screen variants in the coding and adjacent regions of OPA1, OPA3 and the three primary LHON-related mutation sites in mitochondrial DNA (mtDNA (m.3460G>A, m.11778G>A and m.14484T>C. All patients underwent a complete ophthalmic examination and were compared with age-matched controls. We identified 89/304 (29.3% primary mtDNA mutations related to LHON in 304 probands, including 76 mutations at m.11778 (76/89, 85.4% of all mtDNA mutations, four at m.3460 (4/89, 4.5% and nine at m.14484 (9/89, 10.1%. This result was similar to the mutation frequency among Chinese patients with LHON of any age. Screening of OPA1 revealed 23 pathogenic variants, including 11 novel and 12 known pathogenic mutations. This study expanded the OPA1 mutation spectrum, and our results showed that OPA1 mutation is another common cause of childhood-onset hereditary optic neuropathy in Chinese pediatric patients, especially those with disease onset during preschool age.

  17. What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases.

    Science.gov (United States)

    Pepin, Melanie G; Byers, Peter H

    2015-12-01

    Non-accidental injury (NAI) is a major medical concern in the United States. One of the challenges in evaluation of children with unexplained fractures is that genetic forms of bone fragility are one of the differential diagnoses. Infants who present with fractures with mild forms of osteogenesis imperfecta (OI) (OI type I or OI type IV), the most common genetic form of bone disease leading to fractures might be missed if clinical evaluation alone is used to make the diagnosis. Diagnostic clinical features (blue sclera, dentinogenesis imperfecta, Wormian bones on X-rays or positive family history) may not be present or apparent at the age of evaluation. The evaluating clinician faces the decision about whether genetic testing is necessary in certain NAI cases. In this review, we outline clinical presentations of mild OI and review the history of genetic testing for OI in the NAI versus OI setting. We summarize our data of molecular testing in the Collagen Diagnostic Laboratory (CDL) from 2008 to 2014 where NAI was noted on the request for DNA sequencing of COL1A1 and COL1A2. We provide recommendations for molecular testing in the NAI versus OI setting. First, DNA sequencing of COL1A1, COL1A2, and IFITM5 simultaneously and duplication/deletion testing is recommended. If a causative variant is not identified, in the absence of a pathologic clinical phenotype, no additional gene testing is indicated. If a VUS is found, parental segregation studies are recommended. © 2015 Wiley Periodicals, Inc.

  18. Delayed-enhancement magnetic resonance imaging in patients with clinically suspected stress cardiomyopathy (Tako-Tsubo)

    International Nuclear Information System (INIS)

    Muellerleile, K.; Sultan, A.; Willems, S.; Lund, G.; Groth, M.; Adam, G.; Barmeyer, A.; Meinertz, T.; Koester, R.; Heitzer, T.

    2010-01-01

    To compare the ability of delayed-enhancement magnetic resonance imaging (DE-MRI) and other MRI and clinical parameters to identify diseases mimicking stress cardiomyopathy (SCM). The study included 14 consecutive patients fulfilling the American Heart Association (AHA) criteria for SCM with acute left ventricular dysfunction in the absence of coronary artery disease, triggered by psychological stress. The MRI protocol consisted of cine, T 2-weighted, first-pass-perfusion (FPP) and DE-MRI. Six patients with DE were classified as mimicking SCM (non-SCM) and 8 patients without DE as SCM. FPP defects were found in 4 patients with non-SCM and in none with SCM (p < 0.05). Myocardial edema was found in 5 patients with non-SCM and in 2 patients with SCM (p = ns). No significant differences in clinical findings such as ECG, cardiac markers and echocardiographic recovery of left ventricular function were found between patients with non-SCM and SCM. Non-SCM defined by DE-MRI is a frequent finding in patients fulfilling the AHA criteria for SCM. Clinical findings seem to be of limited value to differentiate between non-SCM and SCM. (orig.)

  19. Congenital Uterine Arteriovenous Malformation Presenting as Postcoital bleeding: A Rare Presentation of a Rare Clinical Condition

    Directory of Open Access Journals (Sweden)

    Neha Agarwal

    2017-01-01

    Full Text Available Congenital uterine arteriovenous malformation (AVM is an extremely rare condition with <100 cases documented in literature. We report multiparous women presenting to us with a history of postcoital bleed. Initial Doppler ultrasonography was consistent with features suggestive of AVM. Subsequently, computed tomography (CT angiography confirmed the diagnosis. Embolization was chosen as the treatment because of the large extension of AVM and the risk of hemorrhage during hysterectomy. The patient was discharged in a stable condition with a plan of repeat embolization in the next setting. At 6 and 12 weeks of follow-up, she did not experience any further episodes of bleed. The purpose of this case report is to highlight the salient clinical features, diagnosis, and the management options available for this rare clinical condition.

  20. Congenital Simple Hamartoma of Retinal Pigment Epithelium: Clinical and Imaging Findings

    Directory of Open Access Journals (Sweden)

    Mehmet Yasin Teke

    2012-01-01

    Full Text Available Congenital simple hamartoma of retinal pigment epithelium (CSHRPE is a rare, asymptomatic, and incidentally detected benign lesion. However, it is very important to do the differential diagnosis from other pigmented retinal lesions. Its clinical presentation and imaging findings are very helpful in doing this differentiation. This paper presents clinical and imaging findings of a 56-year-old woman with incidentally detected CSHRPE. The lesion was small, heavily pigmented, well circumscribed, and slightly elevated. Optical coherence tomography (OCT scanning was diagnostic and showed an elevated retina at the site of the lesion, increased optical reflectivity on its inner surface, optical shadowing of deeper structures, and clearly cut tumor margins. Ocular ultrasonography, fluorescein angiography, and fundus autofluorescence imaging which is firstly described in this report did not show any characteristic finding.

  1. Randomized clinical trial of Appendicitis Inflammatory Response score-based management of patients with suspected appendicitis.

    Science.gov (United States)

    Andersson, M; Kolodziej, B; Andersson, R E

    2017-10-01

    The role of imaging in the diagnosis of appendicitis is controversial. This prospective interventional study and nested randomized trial analysed the impact of implementing a risk stratification algorithm based on the Appendicitis Inflammatory Response (AIR) score, and compared routine imaging with selective imaging after clinical reassessment. Patients presenting with suspicion of appendicitis between September 2009 and January 2012 from age 10 years were included at 21 emergency surgical centres and from age 5 years at three university paediatric centres. Registration of clinical characteristics, treatments and outcomes started during the baseline period. The AIR score-based algorithm was implemented during the intervention period. Intermediate-risk patients were randomized to routine imaging or selective imaging after clinical reassessment. The baseline period included 1152 patients, and the intervention period 2639, of whom 1068 intermediate-risk patients were randomized. In low-risk patients, use of the AIR score-based algorithm resulted in less imaging (19·2 versus 34·5 per cent; P appendicitis (6·8 versus 9·7 per cent; P = 0·034). Intermediate-risk patients randomized to the imaging and observation groups had the same proportion of negative appendicectomies (6·4 versus 6·7 per cent respectively; P = 0·884), number of admissions, number of perforations and length of hospital stay, but routine imaging was associated with an increased proportion of patients treated for appendicitis (53·4 versus 46·3 per cent; P = 0·020). AIR score-based risk classification can safely reduce the use of diagnostic imaging and hospital admissions in patients with suspicion of appendicitis. Registration number: NCT00971438 ( http://www.clinicaltrials.gov). © 2017 BJS Society Ltd Published by John Wiley & Sons Ltd.

  2. Suspected fusariomycotoxicosis in sandhill cranes (Grus canadensis): clinical and pathological findings.

    Science.gov (United States)

    Roffe, Thomas J.; Stroud, Richard K.; Windingstad, Ronald M.

    1989-01-01

    In 1985 and 1986, large-scale natural die-offs of sandhill cranes in Texas were attributed to fusariomycotoxicosis. These birds demonstrated a progressive loss of motor control to the neck, wings, and legs. Based on necropsy and/or histopathology of 31 cranes, the most common lesions involved skeletal muscle and included hemorrhages, granulomatous myositis, thrombosis, and vascular degeneration. Serum chemistry results revealed that levels of creatinine kinase, aspartate aminotransferase, and alanine aminotransferase were above published normals. However, only alanine aminotransferase was higher in clinically affected cranes than in normal cranes collected from the same area.

  3. Helical CT imaging of clinically suspected appendicitis: Correlation of CT and histological findings

    International Nuclear Information System (INIS)

    Wong, S.K.; Chan, L.P.; Yeo, A.

    2002-01-01

    PURPOSE: The diagnosis of appendicitis is traditionally made on the basis of clinical findings supported by laboratory results. The aim of our study was to determine the accuracy and feasibility of using a relatively new technique of computed tomography (CT) using only colonic contrast medium. MATERIALS AND METHODS: A total of 50 patients clinically diagnosed as having appendicitis were prospectively examined before surgery with thin-collimation helical CT from the L3 level to the acetabular roof with only rectally administered colon contrast medium. The hard copy CT images were reviewed jointly by two radiologists and a consensus was reached for each patient. The results were then compared with the surgical and histological findings at appendicectomy. RESULTS: There were 35 true-positives, one false-positive, 12 true-negatives and two false-negatives for CT. This yielded an accuracy of 94%, sensitivity of 95%, specificity of 92%, positive predictive value of 97% and negative predictive value of 86%. The appendix was identified in 45 patients (90%) and obscured by an inflammatory mass in the remaining five. An alternative diagnosis was found in 10 of 12 normal CT examinations (83%). CONCLUSION: Helical CT with rectal contrast medium is a quick, well tolerated and accurate test to diagnose appendicitis. It can offer alternative, possibly non-surgical diagnosis in patients who would otherwise have undergone laparotomy. Wong, S.K. et al. (2002)

  4. Evaluation of outpatients with suspected pulmonary tuberculosis in a high HIV prevalence setting in Ethiopia: clinical, diagnostic and epidemiological characteristics.

    Science.gov (United States)

    Bruchfeld, Judith; Aderaye, Getachew; Palme, Ingela Berggren; Bjorvatn, Bjarne; Britton, Sven; Feleke, Yewenhareg; Källenius, Gunilla; Lindquist, Lars

    2002-01-01

    In a setting with a high prevalence of HIV we studied (i) the prevalence of pulmonary tuberculosis (PTB) and HIV; (ii) clinical and epidemiological characteristics of PTB; and (iii) the usefulness of standard procedures for diagnosing PTB. Of 509 consecutive outpatients evaluated on clinical suspicion of PTB in Addis Ababa, 33.0% were culture-verified as having PTB. PTB patients, non-TB patients and controls were HIV-1-positive in 57.1%, 38.5% and 8.3% of cases, respectively. Predictors for culture-verified PTB were age infection. Diagnosis of PTB based on clinical symptoms, sputum microscopy for acid-fast bacilli and chest radiography was sensitive (86.7%) but unspecific (64.1%). In HIV-positive patients both sensitivity and specificity were significantly lower (p infections are often misinterpreted as smear-negative PTB. HIV screening is therefore warranted not only in cases of verified TB but also as part of the diagnostic work-up in patients with respiratory symptoms suggestive of PTB. Also, increased awareness of, and improved diagnostic tools for, HIV-related pulmonary infections other than PTB are required, together with algorithms for patients with suspected PTB.

  5. 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.

  6. Clinically suspected anaphylaxis induced by sugammadex in a patient with Weaver syndrome undergoing restrictive mammoplasty surgery

    Science.gov (United States)

    Bedirli, Nurdan; Işık, Berrin; Bashiri, Mehrnoosh; Pampal, Kutluk; Kurtipek, Ömer

    2018-01-01

    Abstract Rationale: Sugammadex is a cylodextrin derivate that encapsulates steroidal neuromuscular blocker agents and is reported as a safe and well-tolerated drug. In this case report, we present a patient who developed grade 3 anaphylaxis just after sugammadex administration. Patient concerns: A 22-year-old woman with diagnosis of Weaver syndrome was scheduled for bilateral mammoplasty and resection of unilateral accessory breast tissue resection. Anesthesia was induced and maintained by propofol, rocuronium, and remifentanil. At the end of the operation, sugammadex was administered and resulted in initially hypotension and bradycardia then the situation worsened by premature ventricular contraction and bigeminy with tachycardia, bronchospasm, and hypoxia. Diagnosis: The Ring and Messmer clinical severity scale grade 3 anaphylactic reaction occurred just after sugammadex injection and the patient developed prolonged hypotension with recurrent cardiac arrhythmias in postoperative 12 hours. Interventions: Treatment was initiated bolus injections of ephedrine, epinephrine, lidocaine, steroids and antihistaminic and continued with lidocaine bolus dosages and norepinephrine infusion for the postoperative period. Outcomes: The general condition of the patient improved to normal 3 hours after the sugammadex injection, and she was moved to the intensive care unit. At 2nd and 8th hours of intensive care unit follow-up, she developed premature ventricular contraction and bigeminy with the heart rate of 130 to 135 beats/min, which returned to sinus rhythm with 50 mg lidocaine. After that, no symptoms were observed and the patient was discharged to plastic surgery clinic at the following day. Lessons: Sugammadex may result in life-treating anaphylactic reaction even in a patient who did not previously expose to drug. Moreover, prolonged cardiovascular collapse and cardiac arrhythmias may occur. PMID:29505006

  7. Clinical Databases and Registries in Congenital and Pediatric Cardiac Surgery, Cardiology, Critical Care, and Anesthesiology Worldwide.

    Science.gov (United States)

    Vener, David F; Gaies, Michael; Jacobs, Jeffrey P; Pasquali, Sara K

    2017-01-01

    The growth in large-scale data management capabilities and the successful care of patients with congenital heart defects have coincidentally paralleled each other for the last three decades, and participation in multicenter congenital heart disease databases and registries is now a fundamental component of cardiac care. This manuscript attempts for the first time to consolidate in one location all of the relevant databases worldwide, including target populations, specialties, Web sites, and participation information. Since at least 1,992 cardiac surgeons and cardiologists began leveraging this burgeoning technology to create multi-institutional data collections addressing a variety of specialties within this field. Pediatric heart diseases are particularly well suited to this methodology because each individual care location has access to only a relatively limited number of diagnoses and procedures in any given calendar year. Combining multiple institutions data therefore allows for a far more accurate contemporaneous assessment of treatment modalities and adverse outcomes. Additionally, the data can be used to develop outcome benchmarks by which individual institutions can measure their progress against the field as a whole and focus quality improvement efforts in a more directed fashion, and there is increasing utilization combining clinical research efforts within existing data structures. Efforts are ongoing to support better collaboration and integration across data sets, to improve efficiency, further the utility of the data collection infrastructure and information collected, and to enhance return on investment for participating institutions.

  8. Spooky Suspects

    Science.gov (United States)

    Pacifici, Lara

    2011-01-01

    This activity presents an option for covering biology content while engaging students in an investigation that highlights the spirit of Halloween. Students are engaged in the story line and have fun trying to solve the mystery kidnapping by using science skills to examine the evidence and eliminate some ghoulish suspects. (Contains 1 figure.)

  9. Clinical profile of congenital adrenal hyperplasia and short-term response to treatment

    International Nuclear Information System (INIS)

    Lal, S.; Lal, S.; Jamro, B.U.; Jamro, S.

    2015-01-01

    To determine the clinical presentation of congenital adrenal hyperplasia and short- term response to treatment. Background: Congenital adrenal hyperplasia (CAH) is a genetic disorder which usually presents with life threatening emergencies. Awareness of physicians regarding these presentations is an essential for early diagnosis and lifesaving treatment. In view of the prevalence of the condition as reported from tertiary care centers within the country and other parts of the globe, we had carried out a study in the paediatric department of Shaheed Mohtrama Benazir Bhutto Medical University Larkana. Material and Methods: The study was conducted over a period of one year from July 2012 to June 2013. All infants presenting with vomiting, dehydration, shock, failure to thrive and ambiguous genitalia were examined and investigated thoroughly. The diagnosis was based upon a raised level of serum 17 OHP in a child with suggestive clinical features. Results: A total of 40 children were diagnosed to have CAH during the study period. The major presenting features were vomiting in 13 (32.5%), ambiguous genitalia 17 (42.5%), vomiting and ambiguous genitalia 10 (25%), shock 5(12.5%) and failure to thrive in 13 (32.5%) of cases. All the patients were followed up after initiation of treatment and good response was observed to short-term treatment. Conclusion: This study highlights the importance of common clinical features like vomiting, unreasonable dehydration, shock and ambiguous genitalia being the presenting features of CAH and the effectiveness of replacement therapy in amending life threatening emergencies due to this condition. (author)

  10. The joint impact of smoking and exercise capacity on clinical outcomes among women with suspected myocardial ischemia: the WISE study.

    Science.gov (United States)

    Linke, Sarah E; Rutledge, Thomas; Johnson, B Delia; Olson, Marian B; Bittner, Vera; Cornell, Carol E; Shaw, Leslee J; Eteiba, Wafia; Parashar, Susmita; Sheps, David S; Vido, Diane A; Mulukutla, Suresh; Bairey Merz, C Noel

    2009-04-01

    Although extensive research has been conducted on both smoking and low exercise capacity alone, few studies have examined the joint impact or interaction of these two risk factors. We examined the joint and interactive effects of smoking and self-reported exercise capacity on subsequent clinical events (heart failure, myocardial infarction [MI], stroke, and cardiovascular-related mortality) among women with suspected myocardial ischemia. At baseline (1996-1999), 789 women completed angiographic testing of coronary artery disease (CAD) severity and provided self-report information about their smoking history and exercise capacity as well as demographic and other risk factor data. Incidence of clinical events among the women was tracked for a median of 5.9 years; this analysis was conducted in 2008. In an adjusted survival analysis, women with a positive smoking history and self-reported low exercise capacity had the greatest risk of experiencing a clinical event (HR = 7.7, 95% CI 2.3, 25.5), followed by women with a positive smoking history and self-reported high exercise capacity (HR = 6.9, 95% CI 2.0, 24.6) and those with a negative smoking history and self-reported low exercise capacity (HR = 4.9, 95% CI 1.5, 15.8), relative to women with a negative smoking history and self-reported high exercise capacity. Additional analyses revealed a significant interaction between smoking history and exercise capacity, such that (1) women with a positive smoking history did not experience an additional significantly greater risk due to low exercise capacity, unlike those with a negative smoking history, and (2) all women experienced a significantly greater risk due to a positive smoking history regardless of their exercise capacity. Among women with suspected myocardial ischemia, the combined protective health effects of self-reported high exercise capacity and a negative smoking history remained significant after controlling for preexisting CAD severity and other established

  11. Clinical value of FDG dual-head tomography with coincidence imaging in suspected malignant pleural effusion or atelectasis

    International Nuclear Information System (INIS)

    Wang Huoqiang; Wu Jiyang; Pan Huizhong; Liu Jinjun; Shen Yi; Zhao Xianguo

    2004-01-01

    Objective: To determine the ability of 18F-fluorodeoxyglucose (FDG) dual-head tomography with coincidence (DHTC) imaging in detecting lung cancer in patients with suspected malignant pleural effusion or malignant atelectasis on CT scanning. On the other hand, used FDG DHTC to differentiate benign and malignant pleural effusions in patients with lung cancer. Methods: Over a 4-year period, 110 patients with abnormal findings on CT scanning for presence of pleural effusion (n=84) and/or pleural thickening or mediastinal lymph nodes enlargement, or presence of atelectasis (n-26). All patients were suspected malignant pleural effusion or atelectasis caused by lung cancer. But all of them could not found primary lesions in the lungs on CT scanning. FDG DHTC was underwent for all the patients. Imagings were visually analyzed by two experienced observers. They were considered positive if the FDG uptake was increased relative to that in the adjacent lung tissue, and the uptake appeared localized pattern. They were considered negative if the uptake was the same as or less than the adjacent lung tissue, and/or the uptake appeared diffused pattern. Results of FDG DHTC were correlated with pathologic diagnosis for lung cancer. In these patients with proven lung cancer and a suspected malignant pleural effusion, FDG DHTC revealed positive findings (malignant pleural effusion) if pleural activity was greater than background mediastinal activity; or FDG DHTC revealed negative findings (benign pleural effusion) if pleural activity was the same or less than background mediastinal activity. Results of FDG DHTC were compared to pleural cytology, histologic findings of pleural biopsy, or clinical follow-up for presence or absence of malignant pleural effusion. Results: 38 of 110 patients were proven with lung cancer. Among the 38 lung cancer patients, 30 of them had a pleural effusion and 8 of them had a atelectasis. 72 of 110 patients were proven with lung benign diseases (50 with

  12. 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.

  13. Impact on Clinical Management of After-Hours Emergent or Urgent Breast Ultrasonography in Patients with Clinically Suspected Breast Abscesses

    OpenAIRE

    Tanya W. Moseley; Ashley Stanley; Wei Wei; Jay R. Parikh

    2018-01-01

    Newly diagnosed breast abscesses are generally treated as a medical emergency that may necessitate immediate interventional treatment. At our institution, there is no in-house after-hours coverage for breast ultrasonography. We could find no peer-reviewed studies on the cost-effectiveness or clinical management impact of on-call ultrasound technologist coverage for imaging of breast abscesses. The purposes of this study were to determine the incidence of breast abscess in patients with clinic...

  14. Malignant melanoma arising in congenital melanocytic nevi: clinical and dermoscopic challenges

    Directory of Open Access Journals (Sweden)

    Fatma Pelin Cengiz

    2017-01-01

    Full Text Available Congenital melanocytic nevi (CMN are visible pigmented lesions in the skin that are present at birth. CMN are benign malformations resulting from defective development of melanocyte precursors in the embryo. Six MMs from six patients were analyzed by clinical and dermoscopic examination. Of the patients, 33.3% were female (N = 2 and 66.6% were male (N = 4. Of the MMs, four (66.6% were superficial spreading MM and two (33.3 % were in situ MM. A reticular pattern was present in the MMs of three patients (50%, a homogeneous pattern was present in the other patients (50% at the base of the MMs. Superficial spreading melanomas and in situ melanomas with atypical dots and globules and a blue-white veil were the most common dermoscopic features of MMs found in CMN.

  15. Congenital esophageal stenosis associated with esophageal atresia/tracheoesophageal fistula: clinical and radiologic features

    Energy Technology Data Exchange (ETDEWEB)

    Yoo, Hye Jin; Kim, Woo Sun; Cheon, Jung-Eun; Shin, Su-Mi; Kim, In-One; Yeon, Kyung Mo [Seoul National University College of Medicine and the Institute of Radiation Medicine, Department of Radiology, Seoul (Korea); Yoo, So-Young [Seoul National University College of Medicine and the Institute of Radiation Medicine, Department of Radiology, Seoul (Korea); Sungkyunkwan University School of Medicine, Department of Radiology and Center for Imaging Science, Samsung Medical Center, Seoul (Korea); Park, Kwi-Won; Jung, Sung-Eun [Seoul National University Children' s Hospital, Department of Pediatric Surgery, Seoul (Korea)

    2010-08-15

    Congenital esophageal stenosis (CES) can be associated with esophageal atresia/tracheoesophageal fistula (EA/TEF). Because there are a variety of degrees of obstruction and symptoms of CES, it is frequently difficult to make a pre- and post-operative diagnosis of the distal CES associated with EA/TEF. To evaluate the clinical and radiologic features of congenital esophageal stenosis associated with esophageal atresia/tracheoesophageal fistula. We retrospectively reviewed postoperative esophagograms and medical records of 187 children (107 boys, 80 girls) who had primary repair of EA/TEF from 1992 to 2009 at our institution. We evaluated the incidence of CES, clinical findings, radiologic features and management of CES in these children. CES was diagnosed in 22 of 187 EA/TEF children (12%); one child had double CES lesions, for a total of 23 lesions. Ten of those 22 children (45%) had presented with significant symptoms of esophageal obstruction. The diagnosis of CES was delayed in 10 children (45%) until 1-10 years of age. On esophagogram, CES (n = 23) was located in the distal esophagus (n = 20, 87%) or mid-esophagus (n = 3, 13%). The degree of stenosis was severe (n = 6, 26%), moderate (n = 10, 43%), or mild (n = 7, 30%). Eight children, including two with unsuccessful esophageal balloon dilatation of CES, were treated surgically. Histologic examination revealed tracheobronchial remnant (n = 7) or fibromuscular hyperplasia (n = 1). One child with surgically treated CES developed achalasia at the age of 3 years 9 months. Esophagography after EA/TEF repair should be performed with a high index of suspicion for the presence of distal CES, because the diagnosis and adequate management of CES can often be delayed. (orig.)

  16. Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark

    DEFF Research Database (Denmark)

    Hove, Marianne N; Kilic-Biyik, Kevser Z; Trotter, Alana

    2016-01-01

    Purpose: To assess clinical characteristics, foveal structure, mutation spectrum, and prevalence rate of Åland eye disease (AED)/incomplete congenital stationary night blindness (iCSNB). Methods: A retrospective survey included individuals diagnosed with AED at a national low-vision center from...

  17. MRI of the SI joints commonly shows non-inflammatory disease in patients clinically suspected of sacroiliitis

    Energy Technology Data Exchange (ETDEWEB)

    Jans, L., E-mail: lennartjans@hotmail.com [Department of Radiology and Medical Imaging, Ghent University Hospital, De Pintelaan 185, 9000 Gent (Belgium); Van Praet, L.; Elewaut, D.; Van den Bosch, F.; Carron, P. [Department of Rheumatology, Ghent University Hospital, De Pintelaan 185, 9000 Gent (Belgium); Jaremko, J.L. [Department of Radiology, University of Alberta Hospital, 8440-112 Street, Edmonton T6G 2B7, Alberta (Canada); Behaeghe, M.; Denis, A.; Huysse, W.; Lambrecht, V.; Verstraete, K. [Department of Radiology and Medical Imaging, Ghent University Hospital, De Pintelaan 185, 9000 Gent (Belgium)

    2014-01-15

    Purpose: To determine the prevalence of clinically relevant non-inflammatory disease on MRI of the sacroiliac (SI) joints in patients suspected of sacroiliitis. To assess the added value of axial imaging of the pelvis in these patients. Methods: In a retrospective study of 691 patients undergoing MRI of the SI joints from January 2006 to December 2012 for inflammatory back pain the prevalence of sacroiliitis and non-inflammatory disease was recorded. Results: In 285 (41%) patients MRI did not show any abnormal findings. In 36% of patients MRI features of sacroiliitis were present. Spinal degenerative changes were the most common non-inflammatory finding in 305 patients (44.1%) and consisted of disc degeneration in 222 (32%) patients, facet joint arthrosis in 58 (8.4%) patients and disc herniation in 25 (3.6%) patients. Hip joint disease in 44 (6.4%) patients, lumbosacral transitional anomaly in 41 (5.9%) patients, SI joint degenerative changes in 25 (3.6%) patients and diffuse idiopathic skeletal hyperostosis in 24 (3.5%) patients were also common. Osteitis condensans ilii in 17 (2.5%) patients, tumour in 11 (1.6%) patients, fracture in 8 (1.2%) patients, infection in 4 (0.6%) patients and acute spondylolysis in 2 patients (0.3%) were less frequently seen. Conclusion: Our study shows that non-inflammatory disease is more common than true sacroiliitis on MRI of the SI joints in patients with inflammatory type back pain. Axial pulse sequences may demonstrate unexpected findings that remain undetected if only coronal images are obtained. Clinical relevance statement:, MRI of the SI joints may demonstrate conditions that clinically mimic sacroiliitis. Axial imaging of the pelvis may help detect these unexpected findings.

  18. MRI of the SI joints commonly shows non-inflammatory disease in patients clinically suspected of sacroiliitis

    International Nuclear Information System (INIS)

    Jans, L.; Van Praet, L.; Elewaut, D.; Van den Bosch, F.; Carron, P.; Jaremko, J.L.; Behaeghe, M.; Denis, A.; Huysse, W.; Lambrecht, V.; Verstraete, K.

    2014-01-01

    Purpose: To determine the prevalence of clinically relevant non-inflammatory disease on MRI of the sacroiliac (SI) joints in patients suspected of sacroiliitis. To assess the added value of axial imaging of the pelvis in these patients. Methods: In a retrospective study of 691 patients undergoing MRI of the SI joints from January 2006 to December 2012 for inflammatory back pain the prevalence of sacroiliitis and non-inflammatory disease was recorded. Results: In 285 (41%) patients MRI did not show any abnormal findings. In 36% of patients MRI features of sacroiliitis were present. Spinal degenerative changes were the most common non-inflammatory finding in 305 patients (44.1%) and consisted of disc degeneration in 222 (32%) patients, facet joint arthrosis in 58 (8.4%) patients and disc herniation in 25 (3.6%) patients. Hip joint disease in 44 (6.4%) patients, lumbosacral transitional anomaly in 41 (5.9%) patients, SI joint degenerative changes in 25 (3.6%) patients and diffuse idiopathic skeletal hyperostosis in 24 (3.5%) patients were also common. Osteitis condensans ilii in 17 (2.5%) patients, tumour in 11 (1.6%) patients, fracture in 8 (1.2%) patients, infection in 4 (0.6%) patients and acute spondylolysis in 2 patients (0.3%) were less frequently seen. Conclusion: Our study shows that non-inflammatory disease is more common than true sacroiliitis on MRI of the SI joints in patients with inflammatory type back pain. Axial pulse sequences may demonstrate unexpected findings that remain undetected if only coronal images are obtained. Clinical relevance statement:, MRI of the SI joints may demonstrate conditions that clinically mimic sacroiliitis. Axial imaging of the pelvis may help detect these unexpected findings

  19. Clinical and microbiological features of dientamoebiasis in patients suspected of suffering from a parasitic gastrointestinal illness: a comparison of Dientamoeba fragilis and Giardia lamblia infections

    NARCIS (Netherlands)

    Vandenberg, Olivier; Peek, Ron; Souayah, Hichem; Dediste, Anne; Buset, Michel; Scheen, Robert; Retore, Patricia; Zissis, Georges; van Gool, Tom

    2006-01-01

    To describe the clinical and microbiological features of Dientamoeba fragilis and Giardia lamblia infected patients, and to analyze the genetic variation of D. fragilis strains. For a period of two years, all stool samples collected from patients suspected of having a parasitic gastrointestinal

  20. Clinical significance of circumportal pancreas, a rare congenital anomaly, in pancreatectomy.

    Science.gov (United States)

    Ohtsuka, Takao; Mori, Yasuhisa; Ishigami, Kousei; Fujimoto, Takaaki; Miyasaka, Yoshihiro; Nakata, Kohei; Ohuchida, Kenoki; Nagai, Eishi; Oda, Yoshinao; Shimizu, Shuji; Nakamura, Masafumi

    2017-08-01

    Circumportal pancreas is a rare congenital pancreatic anomaly. The aim of this study was to clarify the clinical characteristics of patients with circumportal pancreases undergoing pancreatectomy. The medical records of 508 patients who underwent pancreatectomy were retrospectively reviewed. The prevalence of circumportal pancreas and related anatomical variations were assessed. Surgical procedures and postoperative outcomes were compared in patients with and without circumportal pancreas. Circumportal pancreas was observed in 9 of the 508 patients (1.7%). In all nine patients, the portal vein was completely encircled by the pancreatic parenchyma above the level of the splenoportal junction, and the main pancreatic duct ran dorsal to the portal vein. The rate of variant hepatic artery did not differ significantly in patients with and without circumportal pancreas. Pancreatic fistula developed more frequently in patients with than without circumportal pancreas (44% vs. 14%, p = 0.03), but other clinical parameters did not differ significantly in these two groups. Despite being rare, circumportal pancreas may increase the risk of postoperative pancreatic fistula in patients undergoing pancreatectomy. However, a prospective, large-cohort study is necessary to determine the real incidence of relevant anatomical variations and the definitive clinical significance of this rare anomaly. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. Clinical application of ECG-gated 256-slice CT angiography for diagnosis of congenital heart disease

    International Nuclear Information System (INIS)

    Tian Xinhua; Liu Jianhua; Gong Tingting; Geng Lili; Sun Yong

    2011-01-01

    Objective: To investigate the clinical application of ECG-gated 256-slice CT angiography for diagnosis of congenital heart disease, and to evaluate the relationship of the image quality and radiation dose between prospective ECG-gated and retrospective ECG-gated cardiac CT angiography (CTA). Methods: Sixty patients who doubt congenital heart disease underwent cardiac CTA, and they were randomly divided into two groups. Thirty patients in group A underwent prospective ECG-gated cardiac CTA, and thirty patients in group B underwent retrospective ECG-gated cardiac CTA. Then the homogeneous enhancement of vascular structures, stair-step artifact, overall image quality and radiation dose were evaluated. Results: The homogeneous enhancement of vascular structures were 2.8±0.3 and 2.7±0.6, respectively, in two groups; and there was no statistical significance (P>0.05). The stair-step artifact were 3.0±0.9 and 3.1±0.9, respectively, in two groups; and there was also no statistical significance (P>0.05). The overall image quality were 3.0±0.8 and 3.1±0.9, respectively, in two group; and there was statistical significance (P>0.05). However, the effective dose were (5.24±0.52) mSv and (16.68±1.49) mSv, respectively, in two groups; and there was statistical significance (P<0.001). Conclusion: Compared with retrospective ECG-gated cardiac CTA, prospective ECG-gated cardiac CTA can reduce radiation dose about 68.6% , while maintaining the image quality which could be made diagnosis. (authors)

  2. Congenital toxoplasma infection: monthly prenatal screening decreases transmission rate and improves clinical outcome at age 3 years.

    Science.gov (United States)

    Wallon, M; Peyron, F; Cornu, C; Vinault, S; Abrahamowicz, M; Kopp, C Bonithon; Binquet, C

    2013-05-01

    Toxoplasma infection during pregnancy exposes the fetus to risks of congenital infection and sequelae that depend heavily on gestational age (GA) at time of infection. Accurate risk estimates by GA are necessary to counsel parents and improve clinical decisions. We analyzed data from pregnant women diagnosed with acute Toxoplasma infection in Lyon (France) from 1987 to 2008 and assessed how the risks of congenital toxoplasmosis and of clinical signs at age 3 years vary depending on GA at the time of maternal infection. Among 2048 mother-infant pairs, 93.2% of mothers received prenatal treatment and 513 (24.7%) fetuses were infected. Because of a significant reduction in risk since 1992 when monthly screening was introduced (59.4% vs 46.6% at 26 GA weeks; P = .038), probabilities of infection were estimated on the basis of maternal infections diagnosed after mid-1992 (n = 1624). Probabilities of congenital infection were <10% for maternal infections before 12 weeks of gestation, rose to 20.0% at 19 weeks, and then continued increasing to 52.3% and almost 70% at 28 and 39 GA weeks, respectively. Because of a significant reduction in risk of clinical signs of congenital toxoplasmosis in infected children born from mothers diagnosed after 1995 when polymerase chain reaction testing on amniotic fluid was initiated (87/794 vs 46/1150; P = .012), probabilities of clinical signs at 3 years were estimated based on 1015 maternal infections diagnosed after 1995 including 207 infected children, with symptoms in 46 (22.2%). These analyses demonstrated that introduction of monthly prenatal screening and improvement in antenatal diagnosis were associated with a significant reduction in the rate of congenital infection and a better outcome at 3 years of age in infected children. Our updated estimates will improve individual management and counseling in areas where genotype II Toxoplasma is predominant.

  3. Audit of a policy of magnetic resonance imaging with diffusion-weighted imaging as first-line neuroimaging for in-patients with clinically suspected acute stroke

    International Nuclear Information System (INIS)

    Buckley, B.T.; Wainwright, A.; Meagher, T.; Briley, D.

    2003-01-01

    AIM: To audit the feasibility and use of diffusion-weighted (DW) magnetic resonance imaging (MRI) as initial neuroimaging for in-patients with clinically suspected acute stroke. MATERIALS AND METHODS: In April 2000, MRI with DW and T2-weighted sequence was locally instituted as initial neuroimaging for patients with clinically suspected acute stroke. This retrospective study reviewed imaging performed for in-patients with suspected acute stroke over a 9-month period. Data were collected on image type, result and need for repeat imaging. RESULTS: During the study period, 124 patients had neuroimaging for suspected cerebrovascular accident, and 119 were MRI safe. Eighty-eight (73.9%) patients underwent DW MRI as first-line investigation. Five patients were not MRI safe and 31 had computed tomography (CT) as first-line imaging due to lack of available MRI capacity. Repeat neuroimaging was performed in 16 (12.9%) patients. Study times were comparable for both types of neuroimaging: a mean of 13 min for MRI and 11 min for CT. CONCLUSION: The audit standard was achieved in 88 (73.9%) patients. The use of DW MRI as a first-line investigation for patients with a clinical diagnosis of acute stroke is achievable in a district general hospital setting

  4. Audit of a policy of magnetic resonance imaging with diffusion-weighted imaging as first-line neuroimaging for in-patients with clinically suspected acute stroke

    Energy Technology Data Exchange (ETDEWEB)

    Buckley, B.T.; Wainwright, A.; Meagher, T.; Briley, D

    2003-03-01

    AIM: To audit the feasibility and use of diffusion-weighted (DW) magnetic resonance imaging (MRI) as initial neuroimaging for in-patients with clinically suspected acute stroke. MATERIALS AND METHODS: In April 2000, MRI with DW and T2-weighted sequence was locally instituted as initial neuroimaging for patients with clinically suspected acute stroke. This retrospective study reviewed imaging performed for in-patients with suspected acute stroke over a 9-month period. Data were collected on image type, result and need for repeat imaging. RESULTS: During the study period, 124 patients had neuroimaging for suspected cerebrovascular accident, and 119 were MRI safe. Eighty-eight (73.9%) patients underwent DW MRI as first-line investigation. Five patients were not MRI safe and 31 had computed tomography (CT) as first-line imaging due to lack of available MRI capacity. Repeat neuroimaging was performed in 16 (12.9%) patients. Study times were comparable for both types of neuroimaging: a mean of 13 min for MRI and 11 min for CT. CONCLUSION: The audit standard was achieved in 88 (73.9%) patients. The use of DW MRI as a first-line investigation for patients with a clinical diagnosis of acute stroke is achievable in a district general hospital setting.

  5. Clinical Characteristics of Down Syndrome Children With Congenital Heart Disease in a Developing Country

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    Mottaghi Moghaddam

    2015-11-01

    Full Text Available Background Down syndrome (DS is the most common chromosomal abnormality in newborns and is associated with other congenital malformations and health problems. The features of Down syndrome differ according to ethnicity and geographic region. Objectives The main aim was to assess the clinical characteristics of DS patients in a referral pediatric cardiology department. Patients and Methods In this cross-sectional study, we assessed the clinical characteristics of children with Down syndrome and heart defects in an educational hospital over 11 years (from September 2001 to September 2012 in Iran. All data were collected according to a checklist created by the researchers, which included the clinical information, genetic characteristics, cardiac and non-cardiac co-existing diseases, and parental variables of the children. An independent t-test and a chi-square test were used to compare qualitative variables such as birth weight and age of diagnosis. P < 0.05 was considered statistically significant. Results 100 patients with Down syndrome and congenital heart disease were evaluated; 52 were female (52% and 48 were male (48%. The average birth weight of the subjects was 2745 ± 523 (mean ± SD grams. The mean age of the patients’ mothers was 32 ± 6 years, and the mean age of the patients’ fathers was 36 ± 6 years. Chromosomal analysis was performed for 61 patients, 60 of whom had free trisomy (98.4%, one of whom had translocation (1.6%, and none of whom had a mosaic pattern of chromosomal abnormality. The parents of 33 the patients in this study were consanguineous. All patients had cardiac disorders, but non-cardiac disorder also was recorded in 37 patients (37%. The most common non-cardiac disorder in patients was hypothyroidism, and the second most common was gastrointestinal problems. Conclusions Parents were blood relatives in 33 (33% of the patient cases, which is a very high rate. Therefore, non-random mating is an important issue in

  6. Diagnosing congenital malaria in a high-transmission setting: clinical relevance and usefulness of P.falciparum HRP2-based testing

    NARCIS (Netherlands)

    Natama, Hamtandi Magloire; Ouedraogo, Delwendé Florence; Sorgho, Hermann; Rovira-Vallbona, Eduard; Serra-Casas, Elisa; Somé, M. Athanase; Coulibaly-Traoré, Maminata; Mens, Petra F.; Kestens, Luc; Tinto, Halidou; Rosanas-Urgell, Anna

    2017-01-01

    Congenital malaria diagnosis is challenging due to frequently observed low parasite density infections, while their clinical relevance during early infancy is not well characterized. In Nanoro health district (Burkina Faso), we determined the prevalence of congenital malaria by real-time

  7. Clinical, demographic characteristics and results of the long term follow-up in adolescents and adults with congenital heart disease

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    I.G. Lebid

    2016-05-01

    Full Text Available The aim – to analyze clinical and demographic indicators in adolescents and adults with congenital heart disease (CHD to provide strategy of cardiac care for these patients, to assess risk of cardiological and cardiac surgery interventions in patients with congenital heart malformations. Materials and methods. 2569 consecutive patients, aged 16–88 years, mean age 24.14 ± 0.20 years, were selected in electronic database from April 01, 2011 to December 31, 2015. The majority (92.57 % of the included patients (n = 2378 were younger than 40 years. Results. Among all CHD patients, a significant majority had septal defects (39 % and left heart lesions (24 %, followed by congenital lesions of thoracic arteries and veins (16 % and right heart lesions (10 %. The annual number of the examined patients with CHD progressively increased (from 210 in 2011 to 656 in 2015. The number of patients aged 18 years or older mostly increased. The number of patients older than 40 years increased from nine patients in 2011 to 75 adults in 2015. Patients after cardiac surgery and percutaneous transcatheter interventions dominated (n=1553, 60.45 %, compared to the patients without any interventions for CHD (n = 1016, 39.55 %. Only one intervention for CHD was performed in the majority of these patients (n = 1255, 80.81 %, 12.94 % needed two interventions, 3.99 % – three, 2.26 % – three or more interventions. Conclusions. Among patients with congenital heart disease, patients younger than 40 years old were prevalent (92.57 %, with no significant gender differences. Septal defects (ASD, VSD, left heart lesions (congenital aortic valve stenosis and insufficiency, congenital lesions of thoracic arteries and veins (patent ductus arteriosus and aorta coarctation were registered most often in adolescents and adults.

  8. Primary prophylaxis for children with severe congenital factor VII deficiency - Clinical and laboratory assessment.

    Science.gov (United States)

    Kuperman, A A; Barg, A A; Fruchtman, Y; Shaoul, E; Rosenberg, N; Kenet, G; Livnat, T

    2017-09-01

    Severe congenital factor VII (FVII) deficiency is a rare bleeding disorder. Prophylaxis with replacement therapy has been suggested to patients, yet the most beneficial dosing regimens and therapy intervals are still to be defined. Due to the lack of evidence-based data, we hereby present our experience with long-term administration and monitoring primary prophylaxis in children with severe FVII deficiency and an extremely high bleeding risk. Four children with familial FVII deficiency, treated by prophylactic recombinant activated factor VII (rFVIIa), 15-30μg/kg/dose, given 2-3 times weekly since infancy, are discussed. Clinical follow up and monitoring laboratory assays, including thrombin generation, measured at various time points after prophylactic rFVIIa administration are presented. Among our treated patients neither FVII activity nor thrombin generation parameters (both already declined 24h post rFVIIa administration) were able to predict the impact of prophylaxis, and could not be used as surrogate markers in order to assess the most beneficial treatment frequency. However, the long clinical follow-up and comprehensive laboratory assessment performed, have shown that early primary prophylaxis as administered in our cohort was safe and effective. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. Beals syndrome (congenital contractural arachnodactyly in children: Clinical symptoms, diagnosis, treatment, and prevention

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    A. N. Semyachkina

    2016-01-01

    Full Text Available The paper deals with a rare monogenic connective tissue disease from a group of fibrillinopathies with autosomal dominant inheritance — Beals syndrome caused by a mutation in the FBN2 gene. Attention is drawn to the high phenotypic similarity of this disease and Marfan syndrome (FBN1 gene mutation, which is associated with the almost complete identity of two proteins: fibrillin 1 and fibrillin 2.The paper describes a clinical case of a child with Beals syndrome and the typical manifestations of the disease: asthenic constitution, arachnodactyly of the hands and feet, congenital contractures of the large and small joints, chest deformity, kyphoscoliosis, talpes, and crushed ears. The investigators made a differential diagnosis with other connective tissue diseases, such as Marfan syndrome, Stickler syndrome, Ehlers–Danlos syndrome, homocystenuria, and arthrogryposis. DNA diagnosis verified the Beals syndrome in the proband. Exon 28 in the FBN2 gene showed the previously undescribed missense mutation of c.3719G>A, resulting in the amino acid substitution of cysteine for tyrosine (p.Cys1240Tyr in the structure of the protein fibrillin 2. A de novo mutation occurred. There is evidence for its pathogenicity in the development of the clinical symptoms of the disease. The problems of effective medical genetic counseling in this family are discussed. 

  10. Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.

    Science.gov (United States)

    Khattab, Ahmed; Haider, Shozeb; Kumar, Ameet; Dhawan, Samarth; Alam, Dauood; Romero, Raquel; Burns, James; Li, Di; Estatico, Jessica; Rahi, Simran; Fatima, Saleel; Alzahrani, Ali; Hafez, Mona; Musa, Noha; Razzghy Azar, Maryam; Khaloul, Najoua; Gribaa, Moez; Saad, Ali; Charfeddine, Ilhem Ben; Bilharinho de Mendonça, Berenice; Belgorosky, Alicia; Dumic, Katja; Dumic, Miroslav; Aisenberg, Javier; Kandemir, Nurgun; Alikasifoglu, Ayfer; Ozon, Alev; Gonc, Nazli; Cheng, Tina; Kuhnle-Krahl, Ursula; Cappa, Marco; Holterhus, Paul-Martin; Nour, Munier A; Pacaud, Daniele; Holtzman, Assaf; Li, Sun; Zaidi, Mone; Yuen, Tony; New, Maria I

    2017-03-07

    Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1 , a gene encoding 11β-hydroxylase, represents a rare autosomal recessive Mendelian disorder of aberrant sex steroid production. Unlike CAH caused by 21-hydroxylase deficiency, the disease is far more common in the Middle East and North Africa, where consanguinity is common often resulting in identical mutations. Clinically, affected female newborns are profoundly virilized (Prader score of 4/5), and both genders display significantly advanced bone ages and are oftentimes hypertensive. We find that 11-deoxycortisol, not frequently measured, is the most robust biochemical marker for diagnosing 11β-hydroxylase deficiency. Finally, computational modeling of 25 missense mutations of CYP11B1 revealed that specific modifications in the heme-binding (R374W and R448C) or substrate-binding (W116C) site of 11β-hydroxylase, or alterations in its stability (L299P and G267S), may predict severe disease. Thus, we report clinical, genetic, hormonal, and structural effects of CYP11B1 gene mutations in the largest international cohort of 108 patients with steroid 11β-hydroxylase deficiency CAH.

  11. Clinical application of T-spot test of Mycobacterium tuberculosis infection for diagnosis of suspected pulmonary tuberculosis patients

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    Xue-ping SHI

    2017-11-01

    Full Text Available Objective To explore the application value of T-spot test of Mycobacterium tuberculosis infection (T-SPOT.TB on diagnosis and differential diagnosis of pulmonary tuberculosis. Methods From Apr. 2014 to Dec. 2016, 700 patients with suspected pulmonary tuberculosis were collected, venous blood (5ml was drawn off and sputum was collected from each patient separately for T-SPOT.TB and pathogens identification (including TB. Chest CT, bronchoscopy brush or biopsy histopathological examination were followed up, cultivation of My. tuberculosis and of common bacteria with sputum or lavage fluid when needed. T-SPOT.TB test was performed according to the kit instruction operation. 2.5×105 peripheral blood mononuclear cells (PBMCs were added into the pre- coated anti- human γ- interferon antibody, and co-incubated separately with two specific My. tuberculosis antigens, namely early secretory targeting 6 (ESAT-6 and culture filtration protein 10 (CFP-10, and then the spot forming cells (SFCs were counted. The gold standard for present study were set as follows: 1 My. tuberculosis smear positive or culture positive; 2 Clinical diagnosis (meet any one is positive. The efficacy of T-SPOT.TB on diagnosing active TB was observed, and then the optimal critical value for diagnosing active TB was determined. Patients diagnosed as active TB were divided into 4 subgroups: initial treatment group, retreatment group, smear or culture positive group, and smear or culture negative group. T-SPOT.TB was carried out to detect A and B antigen, and the difference of formed SFCs was then compared. The present study was approved by the Ethics Committee of Xinjiang Uygur Autonomous Region Chest Hospital. Results Of 700 cases suspected of pulmonary tuberculosis enrolled in present study, 528 out of 624 definite cases (84.6% were finally diagnosed as active tuberculosis (active TB group and 96 cases (15.4% were as without TB infection (non-TB group. Positive results of T

  12. Spectrum of Congenital Heart Diseases in Eastern Nepal: A tertiary care hospital experience

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    Prashant Shah

    2017-01-01

    Full Text Available Background & Objectives: Congenital heart diseases are neglected especially in world’s poorest nations and appear to be ignored and unexplored dimension of health. The exact prevalence and spectrum of congenital heart diseases in Nepal is largely unknown. The aim of this study was to describe the local experience on the magnitude and the pattern of congenital heart disease in order to increase the awareness of the public and health policy makers on its burden in Nepal.Materials & Methods: This is an observational hospital based study carried out in a tertiary care hospital in Eastern Nepal. The duration of this study was from April 2015 to July 2016. The echocardiography reports of all patients clinically suspected of having congenital heart disease were retrieved, and their diagnostic details were extracted. Only patients of day one of life to 14 years of age were included. Congenital heart diseases like bicuspid aortic valve, mitral valve prolapse and various inherited cardiomyopathies were excluded.Results: A total of 330 echocardiograms were performed for clinically suspected congenital heart disease.  The mean age of study population was 22.31±34.08 months with male to female ratio of 1.2:1. 23% of clinically suspected congenital heart disease cases turned out to have normal echocardiography. Acyanotic congenital heart disease was most common (81.5% followed by cyanotic congenital heart disease (14.2% and obstructive congenital heart disease (4.3%. Atrial septal defect was found to be the most common form of acyanotic congenital heart disease (52% which was followed by ventricular septal defect (28.8% and patent ductus arteriosus (14.8%. Tetralogy of Fallot and double outlet right ventricle were the most common form of cyanotic CHD representing 44.4% of all cyanotic patients. Pulmonary stenosis was the most common obstructive congenital heart disease observed in this study population (63.6%. Rarer entities, like d-transposition of great

  13. [CLINICAL CHARACTERISTICS OF CONGENITAL HEART DISEASES ASSOCIATED WITH CONNECTIVE TISSUE DISPLASIA AT CHILDREN LIVING IN EAST REGION OF KAZAKHSTAN].

    Science.gov (United States)

    Madiyeva, M; Rymbayeva, T

    2017-11-01

    The frequency of the combination of congenital heart defects (CHD) and connective tissue dysplasia remains poorly understood. And connective tissue dysplasia enhance severity the clinical of CHD. The aim of the study was to conduct a clinical and laboratory analysis of combinations of congenital heart defects and connective tissue dysplasia in children of Semey and to determine the risk for the development of these pathologies. The object of the study is the children of Semey (East Kazakhstan) aged 1-14 with congenital heart defects (CHD), with connective tissue dysplasia, healthy children and their mothers. Definition complex clinical and laboratory studies in children with CHD and connective tissue dysplasia, and their mothers. In children with CHD, the frequency of external and visceral signs of dysplasia was high. In 88.1% of cases in children with CHD was diagnosed 2-3 degrees of dysplasia. Was found difference in the microelement composition of blood serum and of hemostasis in children with CHD were expressed by hypofibrinogenemia, hypocalcemia, hypomagnesemia. Excess of the frequency of signs of dysplasia in mothers over the control group to consider dysplasia as a factor that influences the clinical of CHD.

  14. Population pharmacokinetics of exendin-(9-39) and clinical dose selection in patients with congenital hyperinsulinism.

    Science.gov (United States)

    Ng, Chee M; Tang, Fei; Seeholzer, Steven H; Zou, Yixuan; De León, Diva D

    2018-03-01

    Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycaemia in infants and children. Exendin-(9-39), an inverse glucagon-like peptide 1 (GLP-1) agonist, is a novel therapeutic agent for HI that has demonstrated glucose-raising effect. We report the first population pharmacokinetic (PopPK) model of the exendin-(9-39) in patients with HI and propose the optimal dosing regimen for future clinical trials in neonates with HI. A total of 182 pharmacokinetic (PK) observations from 26 subjects in three clinical studies were included for constructing the PopPK model using first order conditional estimation (FOCE) with interaction method in nonlinear mixed-effects modelling (NONMEM). Exposure metrics (area under the curve [AUC] and maximum plasma concentration [C max ]) at no observed adverse effect levels (NOAELs) in rats and dogs were determined in toxicology studies. Observed concentration-time profiles of exendin-(9-39) were described by a linear two-compartmental PK model. Following allometric scaling of PK parameters, age and creatinine clearance did not significantly affect clearance. The calculated clearance and elimination half-life for adult subjects with median weight of 69 kg were 11.8 l h -1 and 1.81 h, respectively. The maximum recommended starting dose determined from modelling and simulation based on the AUC 0-last at the NOAEL and predicted AUC 0-inf using the PopPK model was 27 mg kg -1  day -1 intravenously. This is the first study to investigate the PopPK of exendin-(9-39) in humans. The final PopPK model was successfully used with preclinical toxicology findings to propose the optimal dosing regimen of exendin-(9-39) for clinical studies in neonates with HI, allowing for a more targeted dosing approach to achieve desired glycaemic response. © 2017 The British Pharmacological Society.

  15. Clinically targeted screening for congenital CMV - potential for integration into the National Hearing Screening Programme.

    Science.gov (United States)

    Kadambari, S; Luck, S; Davis, A; Williams, Ej; Berrington, J; Griffiths, Pd; Sharland, M

    2013-10-01

    Screening for a condition should only be undertaken if certain strict criteria are met. Congenital CMV (cCMV) is a leading cause of sensorineuronal hearing loss (SNHL) and meets many of these criteria, but is not currently screened for in the UK. Ganciclovir reduces CMV-induced progressive SNHL if treatment is begun in the first month of life. The Newborn Hearing Screening Programme (NHSP) has been shown to identify SNHL at the earliest possible age. The potential of integrating screening for cCMV into the NHSP is discussed to consolidate the link between screening, early diagnosis and management. The early diagnosis and treatment of cCMV may prevent a small proportion of late SNHL. In the absence of any screening programme, we provide evidence that clinically targeted screening through the NHSP is a potential option in the UK, enhancing the diagnostic pathway and enabling appropriate early treatment to reduce long-term morbidity. ©2013 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  16. Clinical characteristics in genetically distinct forms of the congenital long QT syndrome

    International Nuclear Information System (INIS)

    Kawahara, Yosuke; Sawayama, Toshitami; Samukawa, Masanobu; Nezuo, Shoso; Tanaka, Junji; Suetsuna, Ryoji; Kamiyama, Norio

    1998-01-01

    The clinical characteristics in genetically distinct forms of the congenital long QT syndrome (LQTs) were examined on the balance of bilateral sympathetic nerves, and ECG findings. The subjects (mean: 19.4 years old) were three genetically distinct forms of LQTs, including 3 patients in A-family (the high risk family with sudden death), 2 patients in B-family and 3 patients in C-family. All patients met the standard diagnostic criteria according to Schwartz. As the index of the balance of bilateral sympathetic nerves, the dissociation of Tl and MIBG uptake (D) was examined and the radioactivity ratio (the A/L ratio) of anteroseptal wall to posterolateral wall was calculated. The T-wave patterns of ECG and the situation at syncope were examined. In A-family, all 3 patients showed the lowered A/L ratio, D(+), and similar T-wave patterns in ECG. The syndrome developed at exercise, and their QTc extended at exercise. In B-family, all 2 patients showed normal A/L ratio and long T-wave at QT onset, and their QTc shortened at exercise. All patients had developed syncope at rest. In C-family, all 3 patients showed a little decrease of A/L ratio and similar T-wave patterns. Their QTc extended at exercise. These results suggest that the characteristics of the sympathetic nerve balance, ECG wave patterns and the syndrome may depend on each family. (K.H.)

  17. Congenital amegakaryocytic thrombocytopenia in three siblings: molecular analysis of atypical clinical presentation.

    Science.gov (United States)

    Gandhi, Manish J; Pendergrass, Thomas W; Cummings, Carrie C; Ihara, Kenji; Blau, C Anthony; Drachman, Jonathan G

    2005-10-01

    An 11-year-old girl, presenting with fatigue and bruising, was found to be profoundly pancytopenic. Bone marrow exam and clinical evaluation were consistent with aplastic anemia. Family members were studied as potential stem cell donors, revealing that both younger siblings displayed significant thrombocytopenia, whereas both parents had normal blood counts. We evaluated this pedigree to understand the unusually late presentation of congenital amegakaryocytic thrombocytopenia (CAMT). The coding region and the intron/exon junctions of MPL were sequenced from each family member. Vectors representing each of the mutations were constructed and tested for the ability to support growth of Baf3/Mpl(mutant) cells. All three siblings had elevated thrombopoietin levels. Analysis of genomic DNA demonstrated that each parent had mutations/polymorphisms in a single MPL allele and that each child was a compound heterozygote, having inherited both abnormal alleles. The maternal allele encoded a mutation of the donor splice-junction at the exon-3/intron-3 boundary. A mini-gene construct encoding normal vs mutant versions of the intron-3 donor-site demonstrated that physiologic splicing was significantly reduced in the mutant construct. Mutations that incompletely eliminate Mpl expression/function may result in delayed diagnosis of CAMT and confusion with aplastic anemia.

  18. Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis

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    L. M. Pérez-López

    2015-01-01

    Full Text Available Introduction. Congenital insensitivity to pain and anhidrosis (CIPA or hereditary sensory and autonomic neuropathy type IV is an extremely rare syndrome. Three clinical findings define the syndrome: insensitivity to pain, impossibility to sweat, and mental retardation. This pathology is caused by a genetic mutation in the NTRK1 gene, which encodes a tyrosine receptor (TrkA for nerve growth factor (NGF. Methods. The consultation of a child female in our center with CIPA and a tibia fracture in pseudoarthrosis encouraged us to carefully review literature and examine the therapeutic possibilities. A thorough review of literature published in Pubmed was done about CIPA and other connected medical issues mentioned in the paper. Conclusions. The therapeutic approach of CIPA remains unclear. The preventive approach remains the only possible treatment of CIPA. We propose two new important concepts in the therapeutic approach for these patients: (1 early surgical treatment for long bone fractures to prevent pseudoarthrosis and to allow early weight bearing, decreasing the risk of further osteopenia, and (2 bisphosphonates to avoid the progression of osteopenia and to reduce the number of consecutive fractures.

  19. Suspected primary immune deficiency in a Donge de Bordeaux dog : short communication

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    R.G. Lobetti

    2002-07-01

    Full Text Available A young Donge de Bordeaux dog was presented with chronic intermittent antibiotic responsive gastrointestinal and respiratory disease. Further evaluation showed bacterial lymphadenitis, bacterial tracheitis, normal white cell and differential cell counts, hypogammaglobulinaemia, and the absence of B-lymphocytes but the presence of T-lymphocytes in the lymphoid tissue stained with lymphocyte markers. As the dog came from a narrow genetic base, with related dogs showing similar clinical signs, possible B-cell congenital immune deficiency was suspected.

  20. Imitation Assessment and Its Utility to the Diagnosis of Autism: Evidence from Consecutive Clinical Preschool Referrals for Suspected Autism

    Science.gov (United States)

    Vanvuchelen, Marleen; Roeyers, Herbert; De Weerdt, Willy

    2011-01-01

    The present study sought to examine imitation difficulties as a risk factor for autism. Imitation aptitude was examined in 86 preschoolers suspected of autism (1.9-4.5 years) using the Preschool Imitation and Praxis Scale (PIPS). Differences between imitation, language, motor age-equivalents and nonverbal mental age were used to predict the…

  1. Clinical application of the amplatzer vascular plug in the embolization of vascular malformations associated with congenital heart diseasee

    International Nuclear Information System (INIS)

    Pan Xin; Wang Cheng; Lu Jing; Wu Weihua; Fang Weiyi

    2009-01-01

    Objective: To evaluate the clinical efficacy of percutaneous transcatheter embolization by using Amplatzer vascular plug (AVP) for the treatment of vascular malformations associated with congenital heart diseases. Methods: During the period of June 2006-June 2008, 12 patients with congenital heart disease accompanied by vascular malformations received transcatheter occlusion of the anomalous vessels with AVP. The vascular malformations included solitary or multiple saccular pulmonary arteriovenous malformation (n = 7), coronary artery fistula (n = 2) and major aortopulmonary collaterals concomitant with severe Fallot' s tetralogy (n = 3). All patients were screened with transthoracic echocardiography (TTE) and thoracic CT angiography (CTA), and all the diagnoses were confirmed by routine cardioangiography. Results: Transcatheter occlusion of vascular malformations with AVP was successfully accomplished in all 12 patients. An angiographic check immediately after the procedure showed that complete occlusion was obtained in all patients and no embolism,migration or residual shunt were seen. Sixteen anomalous vessels were occluded. The mean internal diameter of these vessels was (5.2 ± 1.9) mm,while the mean diameter of AVP used was (9.2 ± 2.4) mm. After the operation (mean 3 months), the follow-up echocardiography and/or thoracic CT angiography showed that in all patients the occlusion remained in satisfactory condition and no residual shunt was found. Conclusions: Percutaneous transcatheter closure of congenital vascular malformations with AVP is technically feasible and clinically effective, this treatment can markedly improve patient's living quality and it is well worth extending its clinical application. (authors)

  2. Multidetector computed tomography angiography in clinically suspected hyperacute ischemic stroke in the anterior circulation: an etiological workup in a cohort of Brazilian patients

    OpenAIRE

    Pacheco, Felipe Torres; Littig, Ingrid Aguiar; Gagliardi, Rubens Jose; Rocha, Antônio Jose da

    2015-01-01

    Objective The potential of computed tomography angiography (CTA) was assessed for early determination of stroke subtypes in a Brazilian cohort of patients with stroke. Method From July 2011 to July 2013, we selected patients with suspected hyperacute stroke (< 6 hours). Intracranial and cervical arteries were scrutinized on CTA and their imaging features were correlated with concurrent subtype of stroke. Results Stroke was documented in 50/106 selected patients (47.2%) based on both clinical ...

  3. Clinical Characteristic and Outcome of Acute Lower Respiratory Tract Infection in Children with Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Krystle Gabriela

    2015-09-01

    Full Text Available Background: Acute Lower Respiratory Tract Infection (ALRTI is the leading cause of deaths in children under 5 years of age worldwide, and has high morbidity and mortality in children with Congenital Heart Disease (CHD. The objective of this study was to obtain the incidence, clinical characteristic, and outcome of ALRTI children with CHD. Methods: A retrospective hospital-based study was conducted from January 2007–December 2011 to medical record of child patients with ALRTI and CHD in the Department of Child Health of Dr. Hasan Sadikin General Hospital, Bandung. The diagnosis of CHD was determined by echocardiography. The collected data was analyzed and presented in percentage shown in tables. Results : From 3,897 children who had ALRTI, there were 149 children with CHD (3.8%, with 11.4% of whom founded with recurrent episodes. This happened often in girls than boys with quite similar ratio of 1.37: 1.The majority of children (80% was under 1 year old of age, 72.5% with malnutrition, and 24.8% with severe malnutrition. Clinical symptoms mostly found were difficulty of breathing (98%, fever (85.2%, cough (75.2%, and runny nose (63.1%. The most common types of CHD were Patent Ductus Arteriosus (47.6%, followed by Ventricular Septal Defect (47%. Bronchopneumonia (86.6% was the common type of ALRTI. The length of stay was mostly less than 10 days (70.5%. From all the children 43.7% had complications, and 6.7% died. Conclusions: The ALRTI in children with CHD is not common and has good outcome. The majority for CHD lesions are Patent Ductus Arteriosus and Ventricular Septal Defect while for ALRTI is Bronchopneumonia.

  4. [Clinical characteristics and surgical treatment of idiopathic congenital nystagmus in 224 patients].

    Science.gov (United States)

    Ding, J; Zhao, K X; Li, Y P; Ma, H Z; Chen, X; Guo, X; Zhu, L N; Li, N D; Zhang, W

    2016-08-01

    To study clinical characteristics and surgical treatment of idiopathic congenital nystagmus (ICN). A retrospective study was conducted in 224 patients with ICN in Tianjin eye hospital from July 2007 to February 2013. There were 224 patients, 158 (70.54%) males and 66 (29.5%) females, mean age was (11.6±8.4) years and (11.4±6.4) years separately. Horizontal nystgamus happened in 215 cases, 3 cases were vertical type and 6 cases were mixed. 214 cases were with no history of operation and 10 patients had ever underwent surgeries before. Furthermore, 151 patients combined with strabismus and refractive error, anterior segment or retinal disorders, which accounting for 67.4% of all the patients. 48 patients were associated myopia, 30 patients with hyperopia, 43 patients with strabismus. Among them, 153 cases of compensatory head position direction were horizontal with face turn, 43 cases (43/153, 28.1%) showed face turning to the left, 110 cases (110/153, 71.9%) showed face turning to the right. Surgeries were designed according to the compensatory head position and head retroversion angle. For 15 patients with double intermediate zones, the position which was often used with good visual function was chosen for operation design. As for the patients with nystagmus and strabismus, the transfer null zone to primary position for the dominant eye and strabismus surgery for the other eye was chosen. And for complicated patients with compensative head position, the dominant head posture were designed for surgery. ICN is dominated by male with variable clinical manifestations. Surgical choice for ICN depends on the direction of head position and if there is strabismus accompanying it.The aim of ocular muscle surgery is to transfer null zone to primary position. (Chin J Ophthalmol, 2016, 52: 574-578).

  5. Clinical manifestations of testicular adrenal rest tumor in males with congenital adrenal hyperplasia

    Directory of Open Access Journals (Sweden)

    Min Kyung Yu

    2015-09-01

    Full Text Available PurposeIn male patients with congenital adrenal hyperplasia (CAH, the presence of testicular adrenal rest tumors (TARTs have been reported, however their prevalence and clinical manifestations are not well known. Untreated TARTs may lead to testicular structural damage and infertility. This study was conducted to investigate the prevalence of TARTs in male patients with CAH, and characterize the manifestations to identify contributing factors to TART.MethodsAmong 102 CAH patients aged 0-30 years, 24 male patients have been regularly followed up in our outpatient clinic at Severance Children's Hospital from January 2000 to December 2014. In order to reveiw the characteristics of TART patients, we calculated the mean levels of hormones during the 5 years before the time of investigation. Five patients underwent follow-up scrotal ultrasonography (US after adjusting the dosage of glucocorticoids.ResultsTARTs were detected in 8 of the 13 patients (61.5%. The median age of TARTs diagnosis was 20.2 years with the youngest case being 15.5 years old. The mean serum level of adrenocorticotropic hormone (ACTH was higher in the TARTs patient group compared to the non-TARTs group (P<0.05. The tumor size decreased in 3 cases, slightly increased in 1 case, and had no change in another case.ConclusionThe serum ACTH level might be associated with the growth promoting factor for TARTs, but the exact mechanism has not been clearly identified. Screening for TARTs using US is important in male patients with CAH for early-detection and prevention of ongoing complications, such as infertility.

  6. Value of MDCT and Clinical and Laboratory Data for Predicting the Need for Surgical Intervention in Suspected Small-Bowel Obstruction.

    Science.gov (United States)

    Scrima, Andrew; Lubner, Meghan G; King, Scott; Pankratz, Joshua; Kennedy, Gregory; Pickhardt, Perry J

    2017-04-01

    The purpose of this article is to assess the value of a large panel of clinical and MDCT variables in patients with suspected small-bowel obstruction (SBO) for predicting urgent surgical intervention (data were abstracted from electronic medical record review. Univariate and multivariate analyses were performed. Among all 179 patients with suspected SBO, 56 (31.3%) underwent surgical intervention within 72 hours, 10 (5.6%) had ischemia at surgery, and nine (5.0%) required small-bowel resection. On univariate analysis, multiple CT findings were highly significant (p < 0.01) for predicting the main surgical outcomes, including degree of obstruction, 5-point radiology likelihood scores, and the presence of a transition point, closed loop, and mesenteric congestion. None of the objective clinical or laboratory variables (including serum lactate level) reached this level of significance. At multivariate analysis, forward stepwise logistic regression with 0.05 significance level cutoff included both degree of obstruction (p < 0.001) and closed loop (p < 0.01), with the presence of a transition point showing a trend toward significance (p = 0.081). A number of findings at abdominal MDCT are associated with the need for surgery and other important surgical outcomes in patients with suspected SBO. Overall radiologist impression of need for surgical intervention was a better predictor than any clinical or laboratory parameter.

  7. Experience of diagnosis of congenital arterial anomaly in a child with bronchial obstruction: clinical case and summary

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    L.V. Besh

    2017-08-01

    Full Text Available Congenital anomalies of the aortic arch are a large group of cardiovascular anomalies. Some of them are isolated; others are associated with congenital heart defects or genetic syndromes. There can be different clinical manifestations of these anomalies — from silent forms (accidentally discovered in the examination to a critical circulatory disturbance, requiring surgical intervention in the first hours after the birth of the baby. The article describes clinical search of double aortic arch in a child and successful surgical treatment of this anomaly. This congenital defect of the aorta usually causes the greatest compression of airways compared to other vascular abnormalities. Double aortic arch develops due to absence of involution of distal IV right aortic arch. As a result, two IV arches keep on developing and join together in the left-sided descending thoracic aorta, thus surrounding the trachea and esophagus. Smaller of the two arches is often subjected to atresia, but it is still connected to the descending aorta, creating a complete vascular ring. As a double aortic arch pressures on the trachea and esophagus, it can cause airway obstruction and dysphagia in a patient. Therapeutic tactic depends on the intensity of symptoms, presence of concomitant anomalies or diseases, and many additional factors, which are analyzed and considered within the council of physicians of different specialties.

  8. Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis.

    Directory of Open Access Journals (Sweden)

    Sarra E Jamieson

    2008-06-01

    Full Text Available Primary Toxoplasma gondii infection during pregnancy can be transmitted to the fetus. At birth, infected infants may have intracranial calcification, hydrocephalus, and retinochoroiditis, and new ocular lesions can occur at any age after birth. Not all children who acquire infection in utero develop these clinical signs of disease. Whilst severity of disease is influenced by trimester in which infection is acquired by the mother, other factors including genetic predisposition may contribute.In 457 mother-child pairs from Europe, and 149 child/parent trios from North America, we show that ocular and brain disease in congenital toxoplasmosis associate with polymorphisms in ABCA4 encoding ATP-binding cassette transporter, subfamily A, member 4. Polymorphisms at COL2A1 encoding type II collagen associate only with ocular disease. Both loci showed unusual inheritance patterns for the disease allele when comparing outcomes in heterozygous affected children with outcomes in affected children of heterozygous mothers. Modeling suggested either an effect of mother's genotype, or parent-of-origin effects. Experimental studies showed that both ABCA4 and COL2A1 show isoform-specific epigenetic modifications consistent with imprinting.These associations between clinical outcomes of congenital toxoplasmosis and polymorphisms at ABCA4 and COL2A1 provide novel insight into the molecular pathways that can be affected by congenital infection with this parasite.

  9. Genetic and Epigenetic Factors at COL2A1 and ABCA4 Influence Clinical Outcome in Congenital Toxoplasmosis

    Science.gov (United States)

    Jamieson, Sarra E.; de Roubaix, Lee-Anne; Cortina-Borja, Mario; Tan, Hooi Kuan; Mui, Ernest J.; Cordell, Heather J.; Kirisits, Michael J.; Miller, E. Nancy; Peacock, Christopher S.; Hargrave, Aubrey C.; Coyne, Jessica J.; Boyer, Kenneth; Bessieres, Marie-Hélène; Buffolano, Wilma; Ferret, Nicole; Franck, Jacqueline; Kieffer, François; Meier, Paul; Nowakowska, Dorota E.; Paul, Malgorzata; Peyron, François; Stray-Pedersen, Babill; Prusa, Andrea-Romana; Thulliez, Philippe; Wallon, Martine; Petersen, Eskild; McLeod, Rima; Gilbert, Ruth E.; Blackwell, Jenefer M.

    2008-01-01

    Background Primary Toxoplasma gondii infection during pregnancy can be transmitted to the fetus. At birth, infected infants may have intracranial calcification, hydrocephalus, and retinochoroiditis, and new ocular lesions can occur at any age after birth. Not all children who acquire infection in utero develop these clinical signs of disease. Whilst severity of disease is influenced by trimester in which infection is acquired by the mother, other factors including genetic predisposition may contribute. Methods and Findings In 457 mother-child pairs from Europe, and 149 child/parent trios from North America, we show that ocular and brain disease in congenital toxoplasmosis associate with polymorphisms in ABCA4 encoding ATP-binding cassette transporter, subfamily A, member 4. Polymorphisms at COL2A1 encoding type II collagen associate only with ocular disease. Both loci showed unusual inheritance patterns for the disease allele when comparing outcomes in heterozygous affected children with outcomes in affected children of heterozygous mothers. Modeling suggested either an effect of mother's genotype, or parent-of-origin effects. Experimental studies showed that both ABCA4 and COL2A1 show isoform-specific epigenetic modifications consistent with imprinting. Conclusions These associations between clinical outcomes of congenital toxoplasmosis and polymorphisms at ABCA4 and COL2A1 provide novel insight into the molecular pathways that can be affected by congenital infection with this parasite. PMID:18523590

  10. The Use of Cardiac Magnetic Resonance in Patients with Suspected Coronary Artery Disease: A Clinical Practice Perspective

    OpenAIRE

    Chang, Sung-A; Kim, Raymond J.

    2016-01-01

    Cardiac magnetic resonance imaging (CMR) is a useful diagnostic imaging modality in patients with known or suspected coronary artery disease (CAD). It provides unique information not available from other modalities, however, it is complex. CMR is not a single technique. Instead, it consists of multiple distinct techniques and a lack of understanding of which techniques to perform and how to interpret the findings in combination limits its efficacy and widespread use. Conversely, its multipara...

  11. Assessment of The Clinical Outcome of IM rod Fxation in The Treatment of Tibial Congenital Pseudoarthrosis

    Directory of Open Access Journals (Sweden)

    Mehdi Ramezan Shirazi

    2009-08-01

    Full Text Available Background:Pseudoarthrosis of the tibia poses one of the most challenging treatment problems in all of orthopedics.The goal of the study was to assess the clinical outcome of intramedullary rod fixation in its treatment.Methods:The results of the management for nine patients with pseudoarthrosis of the tibia with IM rod fixation were reviewed retrospectively between 1986 - 2006. The mean duration of follow up was 8.95 years (range,3.5 months to 14.2 years.The   mean age of the patients at the latest follow up was 13.5 years (range, 9 to 23 years.Results:Initial union of the fracture site occurred in seven of nine patients with the mean duration of 7.6 months (range, 3.5 to 15.5 months.Five patients had limb length discrepancy with the mean of 7.2 cm (range,1.5 - 12 cm.Three of them were treated with tibia lengthening procedure with the Ilizarov method.One had a peroneal nerve palsy postoperatively.Two patients had refracture treated with casting and rod exchange. Electrical stimulation was applied in two patients but it was impossible to predict how much it played a role in the union.Conclusion: IM rod fixation technique has a satisfactory functional outcome.The   technique has a high level of acceptance by parents and patients. It should be recommended as the treatment of choice for the management of congenital pseudoarthrosis of the tibia.  

  12. A clinical evaluation of placental growth factor in routine practice in high-risk women presenting with suspected pre-eclampsia and/or fetal growth restriction.

    Science.gov (United States)

    Ormesher, L; Johnstone, E D; Shawkat, E; Dempsey, A; Chmiel, C; Ingram, E; Higgins, L E; Myers, J E

    2018-03-13

    To evaluate the use of plasma Placental Growth Factor (PlGF), recommended by the recent NICE guidance, in women with suspected pre-eclampsia (PE) and/or fetal growth restriction (FGR). Non-randomised prospective clinical evaluation study in high-risk antenatal clinics in a tertiary maternity unit. PlGF testing was performed in addition to routine clinical assessment in 260 women >20 weeks' gestation with chronic disease (hypertension, renal disease ± diabetes) with a change in maternal condition or in women with suspected FGR to determine the impact on clinical management. Results were revealed and standardised care pathways followed. Outcome of pregnancies with a low PlGF (women had an adverse outcome (PE/birthweight women with PlGF 14 days. The PlGF result altered clinical management (surveillance or timing of birth) in 196/260 (75.4%) cases. Alternative PlGF thresholds did not significantly improve diagnostic performance. Our evaluation confirms the value of PlGF as a diagnostic tool for placental dysfunction. However, low PlGF in isolation should not trigger iatrogenic delivery. Further research linking placental pathology, maternal disease and maternal PlGF levels is urgently needed before this test can be implemented in routine clinical practice. Copyright © 2018. Published by Elsevier B.V.

  13. Association of Parasite Load Levels in Amniotic Fluid With Clinical Outcome in Congenital Toxoplasmosis.

    Science.gov (United States)

    Yamamoto, Lidia; Targa, Lília S; Sumita, Laura M; Shimokawa, Paulo T; Rodrigues, Jonatas C; Kanunfre, Kelly A; Okay, Thelma S

    2017-08-01

    AF is associated with the clinical outcome in congenital toxoplasmosis, irrespective of gestational age at maternal infection.

  14. Clinical impact of [18F]FDG-PET in patients with suspected recurrent breast cancer based on asymptomatically elevated tumor marker serum levels. A preliminary report

    International Nuclear Information System (INIS)

    Liu, Chiu-Shong; Lin, Cheng-Chieh; Kao, Chia-Hung; Yen, Ruoh-Fang

    2002-01-01

    The purpose of this study was to evaluate retrospectively the impact of [ 18 F]fluorodeoxyglucose positron emission tomography (FDG-PET) on the detection of recurrent breast cancer based on asymptomatically elevated tumor markers levels. Whole-body FDG-PET was performed in 30 patients with suspected recurrent breast cancer and asymptomatic tumor marker increase but negative or equivocal other imaging modality results. A blood sample was drawn in each case for marker assay (CA 15-3 and CEA) on the same day as the FDG-PET. All of these 30 asymptomatic patients had either CA 15-3>32 U/ml or CEA>5 ng/ml. The final diagnosis of recurrent breast cancer was established by operation/biopsy histopathological findings or clinical follow-up for >1 year by additional morphological imaging techniques. Among the 30 patients, the final diagnosis of recurrent breast cancer was established in 38 sites in 28 patients. FDG-PET accurately detected 35/38 sites in 25/28 patients with recurrence. The diagnostic sensitivity and accuracy of FDG-PET in patients with suspected recurrent breast cancer and asymptomatically elevated tumor markers were 96 and 90%, respectively. FDG-PET is a useful technique for detecting recurrent breast cancer suspected from asymptomatically elevated tumor markers levels and has an important clinical impact on the management of these patients. (author)

  15. Clinical impact of [{sup 18}F]FDG-PET in patients with suspected recurrent breast cancer based on asymptomatically elevated tumor marker serum levels. A preliminary report

    Energy Technology Data Exchange (ETDEWEB)

    Liu, Chiu-Shong; Lin, Cheng-Chieh; Kao, Chia-Hung [China Medical Coll., Taichung, Taiwan (China). Hospital; Shen, Yeh-You [Shin Kong Wu Ho-Su Memorial Hospital, Taipei, Taiwan (China); Yen, Ruoh-Fang [National Taiwan Univ., Taipei, Taiwan (China). Hospital

    2002-07-01

    The purpose of this study was to evaluate retrospectively the impact of [{sup 18}F]fluorodeoxyglucose positron emission tomography (FDG-PET) on the detection of recurrent breast cancer based on asymptomatically elevated tumor markers levels. Whole-body FDG-PET was performed in 30 patients with suspected recurrent breast cancer and asymptomatic tumor marker increase but negative or equivocal other imaging modality results. A blood sample was drawn in each case for marker assay (CA 15-3 and CEA) on the same day as the FDG-PET. All of these 30 asymptomatic patients had either CA 15-3>32 U/ml or CEA>5 ng/ml. The final diagnosis of recurrent breast cancer was established by operation/biopsy histopathological findings or clinical follow-up for >1 year by additional morphological imaging techniques. Among the 30 patients, the final diagnosis of recurrent breast cancer was established in 38 sites in 28 patients. FDG-PET accurately detected 35/38 sites in 25/28 patients with recurrence. The diagnostic sensitivity and accuracy of FDG-PET in patients with suspected recurrent breast cancer and asymptomatically elevated tumor markers were 96 and 90%, respectively. FDG-PET is a useful technique for detecting recurrent breast cancer suspected from asymptomatically elevated tumor markers levels and has an important clinical impact on the management of these patients. (author)

  16. [Corynebacterium imitans isolated from blood culture in a patient with suspected bacteremia - the first isolation from human clinical material in the Czech Republic].

    Science.gov (United States)

    JeŽek, Petr; Zavadilová, Jana; Kolínská, Renáta; Švec, Pavel; Guttwirth, Jiří; Petráš, Petr

    2014-09-01

    The current view of the clinical importance of nondiphtherial corynebacteria recovered from human clinical material has changed considerably in recent decades; in many cases, a direct etiological role is assumed or has already been demonstrated. Presented is a case of suspected bacteremia in a hospitalized elderly woman with isolation of the very rare species Corynebacterium imitans from blood culture. However, the etiological significance of the isolated microorganism remains unclear. The aim was not to demonstrate the etiological significance of the isolated C. imitans strain but to report the occurrence of this very rare species which is considered to be the first isolation from humans in the Czech Republic.

  17. Discordant clinical outcomes of congenital Zika virus infection in twin pregnancies

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    Vanessa van der Linden

    Full Text Available ABSTRACT Congenital Zika syndrome is an emergent cause of a congenital infectious disorder, resulting in severe damage to the central nervous system and microcephaly. Despite advances in understanding the pathophysiology of the disease, we still do not know all the mechanisms enrolled in the vertical transmission of the virus. As has already been reported in other types of congenital infectious disorders in dizygotic twin pregnancies, it is possible that the virus affects only one of the fetuses. In this article, we report on two cases of twin pregnancies exposed to the Zika virus, but with only one of the fetuses affected with microcephaly and brain damage. This indicates the urgent need for more studies regarding the pathophysiology of viral infection and the mechanisms involved in the natural protection against the virus.

  18. [Wells clinical prediction criteria in patients suspected of having deep vein thrombosis: evaluation of components and use in the emergency department].

    Science.gov (United States)

    García-Castrillo Riesgo, Luis; Jiménez Hernández, Sònia; Piñera Salmerón, Pascual

    2015-01-01

    To determine the applicability of the Wells clinical prediction criteria for deep vein thrombosis (DVT) in patients in hospital emergency departments and to evaluate the relevance of the score's components. Prospective multicenter cohort study in consecutive hospital emergency department patients suspected of having DVT. Full-leg Doppler compression ultrasound imaging was performed on all patients. We recorded information on variables related to risk for DVT and the components of clinical prediction scales. Wells and Oudega clinical prediction scores were calculated. We studied 362 patients in 23 hospital emergency departments; the mean (SD) age was 65 (18) years and 52.8% were women. DVT was diagnosed in 254 patients (70.16%); 171 (47.2%) had proximal DVT. The clinical probability of DVT according to the Wells scale and the prevalence of proximal DVT were as follows: low probability, 57 patients (14 with DVT, 24.6%); intermediate probability, 124 (43 with DVT, 34.7%), and high probability, 181 (114 with DVT, 63%). Only 5 of the components of the Wells scale were associated with the presence of proximal DVT. The prevalence of DVT is very high in the 3 categories of clinical probability indicated by the Wells score. The prevalences do not correspond to those of the cohort used to validate the scale. It appears to be necessary to develop scales adjusted for use in hospital emergency departments when DVT is suspected.

  19. Congenital orbital teratoma

    OpenAIRE

    Aiyub, Shereen; Chan, Weng Onn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

    2013-01-01

    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 p...

  20. Prenatal diagnosis of congenital paraesophageal hiatal hernia

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    Min Jeng Cho

    2018-05-01

    Full Text Available Abstracts: Congenital paraesophageal hiatal hernia (CPEH is a rare condition. CPEH can cause important clinical problems such as gastric volvulus, hematemesis, vomiting, failure to thrive, and respiratory distress, it requires early diagnosis and prompt surgical treatment. In this paper, we describe a case of CPEH that was suspected in a prenatal ultrasound. Postnatal upper gastrointestinal contrast series confirmed a CPEH with intrathoracic gastric volvulus. An emergency operation was performed. The stomach was reduced, the hiatal defect was repaired by crural approximation, and a Nissen fundoplication was done. The prenatal diagnosis of CPEH is unusual, but prenatal detection is important because it allows planned neonatal surgery before the onset of complications and reduces long-term morbidity. Keywords: Congenital paraesophageal hiatal hernia, Antenatal diagnosis, Gastric volvulus

  1. Temporary Piggyback Intraocular Lens Implantation Versus Single Intraocular Lens Implantation in Congenital Cataracts: Long-Term Clinical Outcomes.

    Science.gov (United States)

    Hwang, Sungsoon; Lim, Dong Hui; Lee, Soomin; Choi, Daye Diana; Chung, Eui-Sang; Chung, Tae-Young

    2018-04-01

    To report the long-term results of temporary piggyback IOL implantation in congenital cataract and to compare the clinical outcomes of temporary piggyback IOL with those of single IOL implantation. This is a retrospective, comparative, interventional study. The medical records of all consecutive patients who underwent cataract extraction and single or temporary piggyback IOL implantation within the first 3 years of life from 1999 to 2013 at Samsung Medical Center were reviewed. Twenty-eight eyes from 18 patients underwent single IOL implantation (monopseudophakia group), and 32 eyes of 20 patients underwent temporary piggyback IOL implantation in congenital cataract surgery (polypseudophakia group). The mean age at initial cataract surgery was 15.8 months in the monopseudophakia group and 11.1 months in the polypseudophakia group (P = 0.144). The average follow-up duration was 133 months in the monopseudophakia group and 120 months in the polypseudophakia group (P = 0.391). The best-corrected visual acuity at the last visit was 0.36 logMAR in the monopseudophakia group and 0.55 logMAR in the polypseudophakia group (P = 0.044). Four (14%) and 14 (44%) reoperations for complications within the anterior segment were performed in the monopseudophakia group and polypseudophakia group, respectively (P = 0.042). Four cases (14.3%) in the monopseudophakia group and 13 cases (40.6%) in the polypseudophakia group had a glaucoma-related adverse event (P = 0.086). Compared with primary single IOL implantation in congenital cataract, temporary piggyback IOL implantation produced worse visual acuity, higher reoperation rate, and higher risk of secondary glaucoma. Temporary piggyback IOL implantation does not have benefit in congenital cataract.

  2. Clinical Value of Specific Immunoglobulin E Detection by Enzyme-Linked Immunosorbent Assay in Cases of Acquired and Congenital Toxoplasmosis

    Science.gov (United States)

    Foudrinier, F.; Villena, I.; Jaussaud, R.; Aubert, D.; Chemla, C.; Martinot, F.; Pinon, J. M.

    2003-01-01

    The clinical value of immunoenzymatic (enzyme-linked immunosorbent assay) detection of anti-Toxoplasma immunoglobulin E (IgE) was assessed by studying 2,036 sera from 792 subjects, comprising seronegative controls and subjects with acute, active, reactivated, or congenital toxoplasmosis. Included were nonimmunized adults; pregnant women with recently acquired infection (acute toxoplasmosis); immunocompetent subjects with recently acquired severe infection (active toxoplasmosis) expressed as fever, adenopathies, splenomegaly, pneumonia, meningitis, or disseminated infection; subjects—some of them immunocompromised—whose previously moderate IgG antibody levels rose, suggesting a reactivation of quiescent toxoplasmosis; and infants born to seroconverted mothers and evaluated for diagnosis of congenital infection and therapeutic management. Specific IgE antibodies were never detected in seronegative subjects. They were present in 85.7% of asymptomatic seroconverters and in 100% of seroconverters with overt toxoplasmosis, following two different kinetics: in the former, the specific IgE titer generally presented a brief peak 2 to 3 months postinfection and then fell rapidly, whereas specific IgE persisted at a very high titer for several months in the latter. IgE emerged concomitantly with the increase in IgG during toxoplasmic reactivation. For neonatal diagnosis of congenital toxoplasmosis, IgE was less informative than IgM and IgA (sensitivities, 59.5, 64.3, and 76.2%, respectively) and had a specificity of 91.9%. Nevertheless, simultaneous measurement of the three isotypes at birth improved the diagnostic yield to 81% relative to the combination of IgA and IgM. Emergence of specific IgE during postnatal treatment for congenital toxoplasmosis is a sign of poor adherence or inadequate dosing. PMID:12682160

  3. New clinical molecular diagnostic methods for congenital and inherited heart disease

    NARCIS (Netherlands)

    Jongbloed, Jan Dh; Pósafalvi, Anna; Kerstjens-Frederikse, Wilhelmina S.; Sinke, Richard J.; van Tintelen, J. Peter

    2011-01-01

    For patients with congenital and inherited heart disorders, causative mutations are often not identified owing to limitations of current screening techniques. Identifying the mutation is of major importance for genetic counseling of patients and families, facilitating the diagnosis in people at risk

  4. Clinical and histological responses of congenital melanocytic nevi after single treatment with Q-switched lasers

    NARCIS (Netherlands)

    Grevelink, JM; vanLeeuwen, RL; Anderson, RR; Byers, HR

    Background: Laser irradiation of congenital melanocytic nevi is a controversial treatment. Recurrence of lesions after laser treatment appears to be the rule, and the effects of laser irradiation on cellular biological behavior and the possible mutagenic responses of nevomelanocytes that have

  5. Contemporary prevalence of pulmonary arterial hypertension in adult congenital heart disease following the updated clinical classification

    NARCIS (Netherlands)

    van Riel, Annelieke C. M. J.; Schuuring, Mark J.; van Hessen, Irene D.; Zwinderman, Aielko H.; Cozijnsen, Luc; Reichert, Constant L. A.; Hoorntje, Jan C. A.; Wagenaar, Lodewijk J.; Post, Marco C.; van Dijk, Arie P. J.; Hoendermis, Elke S.; Mulder, Barbara J. M.; Bouma, Berto J.

    2014-01-01

    The aging congenital heart disease (CHD) population is prone to develop a variety of sequelae, including pulmonary arterial hypertension (PAH). Previous prevalence estimates are limited in applicability due to the use of tertiary centers, or database encoding only. We aimed to investigate the

  6. Pulmonary artery closure in combination with patch technique for treating congenital heart disease combined with large patent ductus arteriosus: A clinical study of 9 cases

    OpenAIRE

    Wen, Bing; Yang, Junya; Liu, Huiruo; Jiao, Zhouyang; Zhao, Wenzeng

    2016-01-01

    Objective: To document clinical experience of treating congenital heart disease combined with large patent ductus arteriosus with pulmonary artery closure in combination with patch technique. Methods: Thirty-six patients (8 males and 28 females) who suffered from congenital heart disease and underwent hybrid surgery in the First Affiliated Hospital of Zhengzhou University from October 2010 to February 2014 were selected for this study. They aged 14 to 39 years and weighed 32.20 to 61.50 kg. D...

  7. Clinical value of whole-blood interferon-gamma assay in patients with suspected pulmonary tuberculosis and AFB smear- and polymerase chain reaction-negative bronchial aspirates.

    Science.gov (United States)

    Lee, Jaehee; Lee, Shin Yup; Yoo, Seung Soo; Cha, Seung Ick; Won, Dong Il; Park, Jae Yong; Lee, Won-Kil; Kim, Chang Ho

    2012-07-01

    Combining a polymerase chain reaction (PCR) test with bronchoscopy is frequently performed to allow a rapid diagnosis of smear-negative pulmonary tuberculosis (PTB). However, limited data are available concerning clinical judgment in patients with suspected PTB and AFB smear- and PCR-negative bronchial aspirates (BA). The present study evaluated the usefulness of whole-blood QuantiFERON-TB Gold In-Tube (QFT) testing in these patients. Of 166 patients with suspected PTB who had undergone bronchoscopy because of smear-negative sputum or inadequate sputum production, 93 (56%) were diagnosed with culture-positive PTB. Seventy-four patients were either AFB smear- or PCR-positive. In the 75 patients whose BA AFB smear and PCR results were both negative, 19 were finally diagnosed with PTB by culture. The QFT test had a negative predictive value of 91% for PTB. The QFT test may be useful for excluding PTB in patients with suspected PTB whose BA AFB smear and PCR results are both negative. Copyright © 2012 Elsevier Inc. All rights reserved.

  8. Routes to Diagnosis for Suspected Sarcoma: The Impact of Symptoms and Clinical Findings on the Diagnostic Process

    Directory of Open Access Journals (Sweden)

    Heidi Buvarp Dyrop

    2016-01-01

    Full Text Available Background and Objectives. Sarcoma patients often experience delay before diagnosis. We examined the association between presenting symptoms/signs and time intervals for suspected sarcoma patients. Methods. 545 consecutive patients suspected for sarcoma referred over a one-year period were included. Median time intervals in routes to diagnosis were collected from medical records and questionnaires. Results. 102 patients (18.7% had a sarcoma; 68 (12.5% had other malignancies. Median interval for the patient (time from first symptom to first doctor visit, primary care, local hospital, sarcoma center, diagnostic, and total interval for sarcoma patients were 77, 17, 29, 17, 65, and 176 days, respectively. Sarcoma patients visited more hospital departments and had longer median primary care (+10 days and diagnostic intervals (+19 days than patients with benign conditions. Median primary care (−19 days and sarcoma center (−4 days intervals were shorter for patients with a lump versus no lump. Median patient (+40 days, primary care (+12 days, diagnostic (+17 days, and total intervals (+78 days were longer for patients presenting with pain versus no pain. GP suspicion of malignancy shortened local hospital (−20 days and total intervals (−104 days. Conclusions. The main part of delay could be attributed to the patient and local hospitals. Length of time intervals was associated with presenting symptoms/signs and GP suspicion.

  9. Relationship between ELA2 gene mutations, clinical and laboratory parameters in severe congenital and cyclic neutropenia

    Directory of Open Access Journals (Sweden)

    Farhoodi A

    2007-09-01

    Full Text Available   Background: Mutations of ELA2, the gene encoding neutrophil elastase (NE are known to be associated with cyclic neutropenia (CN and severe congenital neutropenia (SCN. However, high variability of these mutations has been reported. This study was designed to describe the analysis of the ELA2 gene, clinical manifestations and demographic characteristics in patients with CN and SCN.Methods: A series of 21 patients with CN or SCN were selected, based on SCINR criteria, from the immunology ward of the Pediatric Medicine Center, Tehran, Iran, from March 2004 to August 2005. The ELA2 gene, isolated from blood samples, was analyzed using RT-PCR and automated capillary sequencing. Informed consent was obtained under the tenets of the Helsinki Declaration and the Ethical Committee of the Tehran University of Medical Sciences.Results: Kostmann's syndrome and CN was diagnosed in three and 18 patients respectively. Of all the patients, one or two mutations were found in 18 cases (85.7%, including all three patients with SCN and 15 of the patients with CN. Exons two and four had the most mutations (eight and seven cases, respectively. Seven patients had double mutations in two distinct exons. Overall, 16 different mutations were found. At the time of presentation, the mean age of patients was 13.4 ±17.6 months, ranging from one month to seven years. Overall, 61.9% of patients had consanguineous parents. The mean absolute neutrophil count was 830.5 ±419.4 (150-2000/mm3. On average, each patient had been admitted to the hospital 2.2 ±1.6 times. The neutrophil counts of the SCN patients were significantly higher than those of the CN patients. However, there was no significant difference in the neutrophil counts between patients with mutations and those without mutations. All patients with SCN had two or more infectious complications, although the prevalence of infectious or non-infectious complications did not correlate with ELA2 mutations or the

  10. Enthesitis of lumbar spinal ligaments in clinically suspected spondyloarthritis: value of gadolinium-enhanced MR images in comparison to STIR

    Energy Technology Data Exchange (ETDEWEB)

    Agten, Christoph A.; Zubler, Veronika; Rosskopf, Andrea B.; Pfirrmann, Christian W.A. [Balgrist University Hospital, Radiology, Zurich (Switzerland); University of Zurich, Faculty of Medicine, Zurich (Switzerland); Weiss, Bettina [Balgrist University Hospital, Rheumatology, Zurich (Switzerland); University of Zurich, Faculty of Medicine, Zurich (Switzerland)

    2016-02-15

    To compare detection of spinal ligament enthesitis between gadolinium-enhanced fat-saturated T1-weighted gadolinium-enhanced fat-saturated T1-weighted (T1+Gd) and STIR sequences in patients with suspected spondyloarthritis. Sixty-eight patients (37 males, 42 ± 14 years) with a sacroiliac-joint (SIJ) and lumbar spine MRI for suspected spondyloarthritis were prospectively included. Sagittal T1+Gd and STIR images of the lumbar spine were assessed by two readers for enthesitis of interspinous/supraspinous ligaments, and for capsulitis of facet-joints between T12-S1. Patients' MRI were grouped according to ASAS (Assessment of SpondyloArthritis international Society) criteria in positive (group A) or negative (group B) SIJs. Enthesitis/capsulitis were compared between groups. Interreader agreement was assessed. Enthesitis/capsulitis per patient was statistically significantly more frequent with T1+Gd compared to STIR (p ≤ 0.007), except for interspinous ligaments for reader 1 (p = 0.455). Interspinous enthesitis, supraspinous enthesitis, and capsulitis were present with T1+Gd(STIR) in 64.7 %(72.1 %), 60.3 %(17.7 %), and 61.8 %(29.4 %) for reader 1, and 51.5 %(41.2 %), 45.6 %(7.4 %), and 91.2 %(45.5 %) for reader 2. There were 76.5 %(52/68) patients in group A and 23.5 %(16/68) in group B. Total number of enthesitis/capsulitis on T1+Gd was statistically significantly higher in group A than B (4.96 vs. 2.94, p = 0.026; 8.12 vs. 5.25, p = 0.041 for reader 1 and 2, respectively). Interreader agreement showed mixed results for interspinous/supraspinous/capsulitis but was higher on T1+Gd (ICC = 0.838/0.783/0.367; p ≤ 0.001) compared to STIR (ICC = 0.652/0.298/0.224; p ≤ 0.032). In patients with suspected spondyloarthritis, enthesitis/capsulitis in the lumbar spine are common findings and more frequently/reliably detected with T1+Gd than STIR. In patients with positive SIJ-MRI, the total number of enthesitis/capsulitis in T1+Gd was higher compared to patients with

  11. Clinicopathological features of transient myeloproliferative syndrome and congenital leukaemia

    International Nuclear Information System (INIS)

    Sajid, N.; Ahmed, N.; Mahmood, S.

    2010-01-01

    The objectives of the study were to determine the spectrum of the clinical and pathological findings, the management and prognosis of patients of transient myeloproliferative syndrome (TMS) and congenital leukaemia. Study Design: Case series. Place and Duration of Study: The study was conducted over a period of 8 years, from January 2000 to December 2007, at the Children's Hospital and the Institute of Child Health, Lahore. Methodology: Suspected patients presenting with fever, pallor, bruises and hepatosplenomegaly and diagnosed as either transient myeloproliferative disorder or congenital leukaemia were studied. The complete blood count, reticulocyte count, leukocyte alkaline phosphatase score, liver function tests, karyotyping studies and bone marrow aspiration biopsy were performed in all of those patients. Management and out come was noted. Results were described as frequency percentages. Results: Out of 10,000 patients presenting during this period, 24 patients were diagnosed as either of transient myeloproliferative syndrome or congenital leukaemia. Fifteen of these were diagnosed as patients of TMS and 9 as patients of congenital leukaemia. Down syndrome (DS) was diagnosed in 75% of these patients. TMS patients were put on supportive treatment and recovered spontaneously. One DS patient with congenital leukaemia went into spontaneous remission and 2 of DS patients with congenital leukaemia responded to chemotherapy while rest of them either died or lost to follow-up. Conclusion: TMS and congenital leukaemia were not very uncommon in the studied population. Majority had Down syndrome. It is important to differentiate their clinical and pathological presentations for proper management. TMS may resolve with supportive treatment while congenital leukaemia is a fatal condition requiring chemotherapy. (author)

  12. Biometry and clinical characteristics of congenital cataracts and microphthalmia in the Miniature Schnauzer.

    Science.gov (United States)

    Gelatt, K N; Samuelson, D A; Barrie, K P; Das, N D; Wolf, E D; Bauer, J E; Andresen, T L

    1983-07-01

    Forty-two Miniature Schnauzer pups and adults with congenital cataracts and microphthalmia were evaluated by serial ophthalmic examinations, slit lamp biomicroscopic photography, and A-scan ultrasonography. The cataracts were evident when the eyelids opened at 2 weeks, affecting predominantly the lens nucleus and posterior cortex. Lenticonus was evident in 19% of the cataractous lenses. Progression of the cataracts was variable and related to involvement of the equatorial and posterior cortices. Lens-induced uveitis developed in some adult dogs with advanced hypermature cataracts. The globe and lens were smaller than normal in the cataractous eyes, as ascertained by A-scan ultrasonography. Age-matched comparisons of clear lens carrier Miniature Schnauzers and normal Beagles with the cataractous Miniature Schnauzers indicated affected globes and cataractous lenses were reduced 10% to 20% in their anteroposterior lengths. The microphthalmia appeared related to the congenital microphakic cataract.

  13. Clinical implications of eicosapentaenoic acid/arachidonic acid ratio (EPA/AA) in adult patients with congenital heart disease.

    Science.gov (United States)

    Kanoh, Miki; Inai, Kei; Shinohara, Tokuko; Tomimatsu, Hirofumi; Nakanishi, Toshio

    2017-12-01

    Recent studies showed that a low ratio between the levels of eicosapentaenoic acid and those of arachidonic acid (EPA/AA) is associated with higher incidence of coronary artery disease and poor prognosis of heart failure, arrhythmia, and cardiac sudden death. However, the clinical implications of EPA/AA in adult patients with congenital heart disease remain unclear. We aimed to assess the prognostic value of EPA/AA regarding cardiac events in adult patients with congenital heart disease. We measured the serum levels of eicosapentaenoic acid and arachidonic acid in 130 adult patients (median age, 31 years) stratified into two groups according to their EPA/AA (low, ≤0.22; high, >0.22). We prospectively analyzed the association between EPA/AA and incidence of cardiac events during a mean observation period of 15 months, expressed in terms of hazard ratio (HR) with 95% confidence interval (95% CI). In the subgroup of patients with biventricular circulation (2VC) (n = 76), we analyzed the same clinical endpoints. In our study population, EPA/AA was not associated with the incidence of arrhythmic events (HR, 1.52; 95% CI, 0.82-2.85; p = 0.19), but low EPA/AA was a predictor of heart failure hospitalization (HR, 2.83; 95% CI, 1.35-6.30; p AA of ≤0.25 was associated with a significantly higher risk of arrhythmic events (HR, 2.55; 95% CI, 1.11-6.41; p = 0.03) and heart failure hospitalization (HR, 5.20; 95% CI, 1.78-18.1; p AA represents a useful predictor of cardiac events in adult patients with congenital heart disease.

  14. Different Clinical Phenotypes in Familial Severe Congenital Neutropenia Cases with Same Mutation of the ELANE Gene

    OpenAIRE

    Cho, Hye-Kyung; Jeon, In Sang

    2014-01-01

    Severe congenital neutropenia (SCN) is a heterogeneous group of disorders with a defect in granulopoiesis causing marked neutropenia and severe bacterial infections. A 17-month-old girl (patient 1) was admitted due to cervical lymphadenitis caused by methicillin-resistant Staphylococcus aureus, with neutropenia. She had Pseudomonas aeruginosa sepsis and peritonitis with perforated appendicitis at 8-month of age. Her sister, a 37-month-old girl (patient 2), had recurrent stomatitis with profou...

  15. Congenital heart diseases in a reference service: clinical evolution and associated illnesses.

    Science.gov (United States)

    Huber, Janaína; Peres, Vivian Catarino; Santos, Tiago Jeronimo dos; Beltrão, Lauro da Fontoura; Baumont, Angélica Cerveira de; Cañedo, Andrés Delgado; Schaan, Beatriz D'Agord; Pellanda, Lucia Campos

    2010-03-01

    Several factors, which include prenatal diagnosis and availability of new therapeutic procedures, have contributed to change the profile of patients with congenital heart disease (CHD). Knowing these changes is important to a better health care. Description of profile of patients with CHD in a reference service in the State of Rio Grande do Sul, Brazil. It is a cross-sectional study including 684 patients with CHD in a service of pediatric cardiology from January 2007 to May 2008. We interviewed the patients (and/or their parents) and examined these patients (congenital malformations, anthropometric measures). Moreover, their charts were reviewed in order to detail heart diseases, procedures and echocardiography. Patients were from 16 days to 66 years old, 51.8% were female, and 93.7% were Caucasian. The mean age at diagnosis was 15.8 +/- 46.8 months. Ventricular septal defect, patent ductus arteriosus and Tetralogy of Fallot were the most prevalent CHD. 59.1% of examined patients, whose average age was 44.3 +/- 71.2 months, have been undergoing therapeutic procedures; 30.4% had congenital extracardiac malformations; and 12 patients had genetic syndrome. Regarding development, 46.6% had low weight and height gain, and 13.7% had neuropsychomotor delay. Furthermore, 18.4% had family history of congenital heart disease. Neuropsychomotor delay and low weight and height gain may be related to CHD. Establishing a profile of patients with CHD, who were treated at an institution of reference, may function as a basis in which health care of this population can be planed appropriately.

  16. The national neonatal screening programme for congenital toxoplasmosis in Denmark: results from the initial four years, 1999-2002

    DEFF Research Database (Denmark)

    Schmidt, Dorte Remmer; Høgh, Birthe; Andersen, O

    2006-01-01

    AIMS: To describe the outcome of four years' nationwide neonatal screening for congenital toxoplasmosis in liveborn newborns. METHODS: Congenital toxoplasmosis was diagnosed if specific Toxoplasma gondii IgM antibodies were detected in eluate from the PKU Guthrie filter paper card from a child....... Infants diagnosed with congenital toxoplasmosis were examined for intracranial and retinal lesions and treated for three months with sulphadiazine, pyrimethamine, and folinic acid continuously. RESULTS: Eluates from PKU-cards from 262 912 newborns were analysed. The birth prevalence of congenital...... toxoplasma infection was 2.1 per 10 000 liveborns. Congenital toxoplasmosis was suspected in 96 infants and confirmed in 55. Forty seven children were examined for intracranial and retinal lesions soon after birth; 12 had clinical signs at this first examination. Of these, 5 had intracranial calcifications...

  17. Bilateral implant-retained auricular prosthesis for a patient with congenitally missing ears. A clinical report.

    Science.gov (United States)

    Kumar, Preeti Satheesh; Satheesh Kumar, K S; Savadi, Ravindra C

    2012-06-01

    Microtia is a major congenital anomaly of the external ear. It includes a spectrum of deformities from a grossly normal but small ear to the absence of the entire external ear. These deformities account for three in every 10,000 births, with bilaterally missing ears seen in fewer than 10% of all cases. Congenital abnormalities of the ear are unlikely to result in the complete absence of the ears, but the patient presented in this article had bilateral congenitally missing ears. There was loss of anatomic landmarks and alteration of normal bony architecture. Minimal tissue was available for retention; therefore, conventional techniques could not be used for achieving retention. A two-implant-supported auricular prosthesis was planned, but the patient was found to have deficient bone in the implant site. Hence the implants were placed posterior to these sites, and the superstructure was modified to accommodate for this change in position of the implant to ensure the esthetic positioning of the prosthesis. © 2012 by the American College of Prosthodontists.

  18. Clinical and neuroimaging profile of congenital brain malformations in children with spastic cerebral palsy

    International Nuclear Information System (INIS)

    Kulak, W.; Okurowska-Zawada, B.; Sobaniec, W.; Goscik, M.; Olenski, J.

    2008-01-01

    Purpose: Analysis of the incidence of congenital brain malformations in children with spastic cerebral palsy (CP) in a hospital based study. Material and Methods: The present study included 74 boys and 56 girls with spastic tetraplegia, diplegia, and hemiplegia CP. Magnetic resonance imaging MRI findings were analyzed in children with CP. Results: Significant abnormalities relevant to the CP were evident on MRI in 124 (95.3%) subjects. Periventicular leukomalacia (PVL) was detected more frequently in children with spastic diplegia than in patients with tetraplegia or hemiplegia. Cerebral atrophy was found more often in the tetraplegic group compared to the diplegic patients. Porencephalic cysts were detected more often in children with spastic hemiplegia. Congenital brain anomalies were evident in 15 (10.7%) children with spastic CP. Brain malformations included: schizencephaly (5), agenesis corpus callosum (4), polymicrogyria (2), holoprosencephaly (2) and lissencephaly (2). Intractable epilepsy and mental retardation were observed more often in children with brain anomalies. Twelve patients with congenital brain malformations were born at term and three born at preterm. Conclusions: Neuroimaging results in children with CP may help determine the etiology and make better prognosis of CP. (authors)

  19. Key aspects congenital infection

    Directory of Open Access Journals (Sweden)

    Yu. V. Lobzin

    2014-01-01

    Full Text Available The key questions to solve the problem of congenital infection in the Russian Federation are: using in national practice over world accepted terminology adapted to the recommendations of the World Health Organization; representation of the modern concepts of an infectious process in the classification of congenital infections; scientific development and introducing in clinical practice the «standard case definitions», applied to different congenital infections; optimization of protocols and clinical guidelines for diagnosis, treatment and prevention of congenital infections; improvement a knowledge in the infectious disease for all  pecialists involved in the risk assessment of congenital infections, manage pregnancy and children. Based on our experience and analysis of publications, the authors suggest possible solutions.

  20. Recruitment of childhood leukaemia patients to clinical trials in Great Britain during 1980-2007: variation by birth weight, congenital malformation, socioeconomic status and ethnicity.

    Science.gov (United States)

    Shah, Anjali; Diggens, Nicole; Stiller, Charles; Richards, Sue; Stevens, Michael C G; Murphy, Michael F G

    2014-05-01

    To assess recruitment of children to national clinical trials for acute lymphoblastic leukaemia (ALL) and acute myeloid leukaemia (AML) in Great Britain during 1980-2007 and describe variation by some factors that might influence trial entry. Records of leukaemia patients aged 0-14 years at diagnosis were identified in the National Registry of Childhood Tumours and linked to birth registrations, Children's Cancer and Leukaemia Group records, Hospital Episode Statistics and Medical Research Council clinical trial registers. Trial entry rates were compared between categories of birth weight, congenital malformation, socioeconomic status and ethnicity. 9147 ALL and 1466 AML patients were eligible for national clinical trials during 1980-2007. Overall recruitment rates were 81% and 60% respectively. For ALL, rates varied significantly with congenital malformation (Down syndrome 61%, other malformations 80%, none 82%; p4000 g 67%; p=0.001) and congenital malformation (Down syndrome 28%, other malformations 56%, none 63%; pcongenital malformations.

  1. Congenital syphilis

    International Nuclear Information System (INIS)

    Lee, Sang Wook; Kim, Kyung Soo; Hur, Don

    1983-01-01

    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%)

  2. Clinical Assessment and Management of Toddlers With Suspected Autism Spectrum Disorder: Insights From Studies of High-Risk Infants

    Science.gov (United States)

    Zwaigenbaum, Lonnie; Bryson, Susan; Lord, Catherine; Rogers, Sally; Carter, Alice; Carver, Leslie; Chawarska, Kasia; Constantino, John; Dawson, Geraldine; Dobkins, Karen; Fein, Deborah; Iverson, Jana; Klin, Ami; Landa, Rebecca; Messinger, Daniel; Ozonoff, Sally; Sigman, Marian; Stone, Wendy; Tager-Flusberg, Helen; Yirmiya, Nurit

    2010-01-01

    With increased public awareness of the early signs and recent American Academy of Pediatrics recommendations that all 18- and 24-month-olds be screened for autism spectrum disorders, there is an increasing need for diagnostic assessment of very young children. However, unique challenges exist in applying current diagnostic guidelines for autism spectrum disorders to children under the age of 2 years. In this article, we address challenges related to early detection, diagnosis, and treatment of autism spectrum disorders in this age group. We provide a comprehensive review of findings from recent studies on the early development of children with autism spectrum disorders, summarizing current knowledge on early signs of autism spectrum disorders, the screening properties of early detection tools, and current best practice for diagnostic assessment of autism spectrum disorders before 2 years of age. We also outline principles of effective intervention for children under the age of 2 with suspected/confirmed autism spectrum disorders. It is hoped that ongoing studies will provide an even stronger foundation for evidence-based diagnostic and intervention approaches for this critically important age group. PMID:19403506

  3. STATUS GIZI DAN STATUS IODIUM PADA BALITA DENGAN SUSPECT DOWN SYNDROME

    Directory of Open Access Journals (Sweden)

    Hastin Dyah K.

    2012-10-01

    Full Text Available Background: Nutritional status is one of the factor that determines the human resources and quality of life. Toddlers are one of vulnerable groups for nutritional problems. One of the nutrition problem in Indonesia is Iodine deficiency disorder. Clinical manifestations are not only endemic goiter and cretins, but also abortion, stillbirth, and congenital abnormalities. Congenital abnormalities are commonly found in areas ofendemic iodine deficiency disorder such as Down Syndrome. Objectives: This study aims to determine the iodine nutrition status of children under jive with Down Syndrome Suspect in endemic areas ofiodine deficiency disorder. Method: This research is descriptive study with cross sectional design. The study was conducted in Magelang district, which is endemic iodine deficiency disorder. Total sample of30 under jive years old with Down Syndrome Suspect. Result: The result showed that the nutritional status of respondents based on the weight/age index was 50% had good nutritional status. According to height/age index as much as 70% are short and very short. Based on weight/height index was 73,3% with normal nutritional status. At least 33% of children with Down Syndrome Suspect accompanied hypothyroidism.  Keywords: Suspect Down Syndrome, Nutritional Status, Iodine Status

  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. Enhanced detection rate of typhoid fever among clinically suspected patients in a tertiary referral hospital in Dhaka, Bangladesh using nested polymerase chain reaction technology.

    Science.gov (United States)

    Khan, S; Miah, M R; Khatun, S

    2015-12-01

    A nested polymerase chain reaction (PCR) specific for Salmonella enterica subspecies enteric serovar Typhi was used for the detection of the pathogen, in blood. This study was done during the period of March 2013 to February 2014. A total of 80 clinically suspected cases of typhoid fever were included in the study. Blood was collected from all participating individuals. Nested PCR targeting the flagellin gene (fliC) of Salmonella Typhi & blood culture were done for each of the cases. The positivity rate of PCR & blood culture was 70%& 20% respectively. The positivity rate of PCR was significantly higher than blood culture (Ptyphoid fever cases on the basis of clinical features but with negative cultures. We conclude that the PCR technique could be used as a novel diagnostic method of typhoid fever, particularly in culture-negative cases in an endemic country like Bangladesh.

  6. Clinical trial comparing autogenous fascia lata sling and Gore-Tex suspension in bilateral congenital ptosis

    Directory of Open Access Journals (Sweden)

    Elsamkary MA

    2016-03-01

    Full Text Available Mahmoud Ahmed Elsamkary,1 Maged Maher Salib Roshdy1,2 1Ophthalmology Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt; 2Pediatric Ophthalmology Department, Al Watany Eye Hospital, Cairo, Egypt Purpose: To study the effect of autogenous fascia lata sling (AFLS versus Gore-Tex suspension (GTS regarding the functional and aesthetic outcomes in patients with bilateral congenital ptosis. Patients and methods: A prospective comparative randomized single-center study enrolled 110 patients with bilateral congenital ptosis. One group (n=55 underwent AFLS and the second group (n=55 underwent GTS. Exclusion criteria were good levator function, absent Bell’s phenomenon, and abnormal ocular motility. Follow-up period was 2 years. Functional outcome was measured from digital photos by analysis of upper eyelid margin position relative to the superior limbus and classified as very good (<3 mm, good (3–5 mm, poor (>5 mm, and recurrent. Aesthetic outcome was assessed in terms of lid contour, symmetry of eyelid height, and lid crease presence. Complications were also reported. Results: Failure rate (recurrence and complications was less in AFLS (P=0.035. Symmetrical lid height and good contour were more frequently attained by AFLS (P=0.007 and 0.047, respectively. However, the frequency of very good, good, poor, recurrence, lagopthalmos, ectropion, infection, and formed lid crease individually showed no statistically significant difference (P=0.252, 0.482, 1, 0.489, 0.438, 1, 0.618, and 0.506, respectively. Conclusion: AFLS is a better choice in surgery for patients with bilateral congenital ptosis because it has fewer complications and a lesser recurrence rate than GTS. Keywords: ptosis surgery, surgical outcomes, ptosis recurrence, lagophthalmos

  7. Double-Blind Randomized Clinical Trial: Gluten versus Placebo Rechallenge in Patients with Lymphocytic Enteritis and Suspected Celiac Disease.

    Directory of Open Access Journals (Sweden)

    Mercè Rosinach

    Full Text Available The role of gluten as a trigger of symptoms in non-coeliac gluten sensitivity has been questioned.To demonstrate that gluten is the trigger of symptoms in a subgroup of patients fulfilling the diagnostic criteria for non-coeliac gluten sensitivity (NCGS, which presented with lymphocytic enteritis, positive celiac genetics and negative celiac serology.Double-blind randomized clinical trial of gluten vs placebo rechallenge.>18 years of age, HLA-DQ2/8+, negative coeliac serology and gluten-dependent lymphocytic enteritis, and GI symptoms, with clinical and histological remission at inclusion. Eighteen patients were randomised: 11 gluten (20 g/day and 7 placebo. Clinical symptoms, quality of life (GIQLI, and presence of gamma/delta+ cells and transglutaminase deposits were evaluated.91% of patients had clinical relapse during gluten challenge versus 28.5% after placebo (p = 0.01. Clinical scores and GIQLI worsened after gluten but not after placebo (p<0.01. The presence of coeliac tissue markers at baseline biopsy on a gluten-free diet allowed classifying 9 out of the 18 (50% patients as having probable 'coeliac lite' disease.This proof-of-concept study indicates that gluten is the trigger of symptoms in a subgroup of patients fulfilling the diagnostic criteria for NCGS. They were characterized by positive celiac genetics, lymphocytic enteritis, and clinical and histological remission after a gluten-free diet.ClinicalTrials.gov NCT02472704.

  8. Clinical significance of inter-arm pressure difference and ankle-brachial pressure index in patients with suspected coronary artery disease

    International Nuclear Information System (INIS)

    Igarashi, Yuko; Chikamori, Taishiro; Tomiyama, Hirofumi; Usui, Yasuhiro; Hida, Satoshi; Tanaka, Hirokazu; Nagao, Tadashi; Yamashina, Akira

    2007-01-01

    Although measuring blood pressure at the bilateral brachia is common in medical practice, its clinical significance in patients with suspected coronary artery disease (CAD) has not been fully clarified. The method of this study was to define the significance of inter-arm systolic blood pressure difference in patients with suspected CAD, and to assess the relationship between inter-arm pressure difference and CAD, simultaneous brachial and ankle blood pressure measurements and stress myocardial single-photon emission computed tomography (SPECT) were performed in 386 consecutive patients with suspected CAD, excluding those with previous myocardial infarction or coronary revascularization. Subclavian artery stenosis, defined as ≥15 mmHg inter-arm systolic blood pressure difference, was found in 27 patients (7%). Age (65±12 vs 65±11 years), male sex (21/27 vs 244/359), prevalence of hypertension (63% vs 56%), hypercholesterolemia (63% vs 62%), diabetes mellitus (33% vs 38%), cigarette smoking (44% vs 41%) and family history of CAD (15% vs 12%) were similar between patients with subclavian artery stenosis and those without. The incidence of decreased ankle-brachial pressure index (ABI) was higher (37% vs 12%, p=0.001), and percentage ischemic myocardium as assessed by SPECT was greater (9.0±8.5% vs 5.6±6.6%, p=0.05) in patients with subclavian artery stenosis than in those without. Furthermore, significant correlations were observed between inter-arm pressure difference and percentage ischemic myocardium (r=0.13; p=0.01), and ABI (r=-0.26, p<0.0001). Among 386 patients, 283 underwent coronary angiography, and 63% of those who had inter-arm blood pressure difference had CAD. Furthermore, 83% of those CAD patients had multi-vessel CAD, which is regarded as a high-risk subset for subsequent cardiac events. Inter-arm pressure difference is often found in patients with suspected CAD, and is associated with significant CAD and peripheral artery disease. Thus, inter

  9. Congenital anterior urethral diverticulum

    International Nuclear Information System (INIS)

    Jung, Hyun Sub; Chung, Young Sun; Suh, Chee Jang; Won, Jong Jin

    1985-01-01

    Two cases of congenital anterior urethral diverticular which have occurred in a 4 year old and one month old boy are presented. Etiology, diagnostic procedures, and its clinical results are briefly reviewed

  10. Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice.

    Science.gov (United States)

    Oliveira, Priscila H A; Souza, Beatriz S; Pacheco, Eimi N; Menegazzo, Michele S; Corrêa, Ivan S; Zen, Paulo R G; Rosa, Rafael F M; Cesa, Claudia C; Pellanda, Lucia C; Vilela, Manuel A P

    2018-01-01

    Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes. A systematic search was performed on Medline electronic databases (PubMed, Embase, Cochrane, Lilacs) of articles published until January 2016. Eligibility criteria were case reports or review articles that evaluated the association of ophthalmic and cardiac abnormalities in genetic syndrome patients younger than 18 years. The most frequent genetic syndromes were: Down Syndrome, Velo-cardio-facial / DiGeorge Syndrome, Charge Syndrome and Noonan Syndrome. The most associated cardiac malformations with ocular findings were interatrial communication (77.4%), interventricular communication (51.6%), patent ductus arteriosus (35.4%), pulmonary artery stenosis (25.8%) and tetralogy of Fallot (22.5%). Due to their clinical variability, congenital cardiac malformations may progress asymptomatically to heart defects associated with high morbidity and mortality. For this reason, the identification of extra-cardiac characteristics that may somehow contribute to the diagnosis of the disease or reveal its severity is of great relevance.

  11. Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice

    Directory of Open Access Journals (Sweden)

    Priscila H. A. Oliveira

    Full Text Available Abstract Background: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. Objective: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes. Method: A systematic search was performed on Medline electronic databases (PubMed, Embase, Cochrane, Lilacs of articles published until January 2016. Eligibility criteria were case reports or review articles that evaluated the association of ophthalmic and cardiac abnormalities in genetic syndrome patients younger than 18 years. Results: The most frequent genetic syndromes were: Down Syndrome, Velo-cardio-facial / DiGeorge Syndrome, Charge Syndrome and Noonan Syndrome. The most associated cardiac malformations with ocular findings were interatrial communication (77.4%, interventricular communication (51.6%, patent ductus arteriosus (35.4%, pulmonary artery stenosis (25.8% and tetralogy of Fallot (22.5%. Conclusion: Due to their clinical variability, congenital cardiac malformations may progress asymptomatically to heart defects associated with high morbidity and mortality. For this reason, the identification of extra-cardiac characteristics that may somehow contribute to the diagnosis of the disease or reveal its severity is of great relevance.

  12. Using multidetector-row CT in neonates with complex congenital heart disease to replace diagnostic cardiac catheterization for anatomical investigation: initial experiences in technical and clinical feasibility

    International Nuclear Information System (INIS)

    Lee, Tain; Tsai, I.C.; Chen, Min-Chi; Fu, Yun-Ching; Jan, Sheng-Lin; Wang, Chung-Chi; Chang, Yen

    2006-01-01

    Echocardiography is the first-line modality for the investigation of neonatal congenital heart disease. Diagnostic cardiac catheterization, which has a small but recognized risk, is usually performed if echocardiography fails to provide a confident evaluation of the lesions. To verify the technical and clinical feasibilities of replacing diagnostic cardiac catheterization with multidetector-row CT (MDCT) in neonatal complex congenital heart disease. Over a 1-year period we prospectively enrolled all neonates with complex congenital heart disease referred for diagnostic cardiac catheterization after initial assessment by echocardiography. MDCT was performed using a 40-detector-row CT scanner with dual syringe injection. A multidisciplinary congenital heart disease team evaluated the MDCT images and decided if further diagnostic cardiac catheterization was necessary. The accuracy of MDCT in detecting separate cardiovascular anomalies and bolus geometry of contrast enhancement were calculated. A total of 14 neonates were included in the study. No further diagnostic cardiac catheterization was needed in any neonate. The accuracy of MDCT in diagnosing separate cardiovascular anomalies was 98% (53/54) with only one atrial septal defect missed in a patient with coarctation syndrome. The average cardiovascular enhancement in evaluated chambers was 471 HU. No obvious beam-hardening artefact was observed. The technical and clinical feasibility of MDCT in complex congenital heart disease in neonates is confirmed. After initial assessment with echocardiography, MDCT could probably replace diagnostic cardiac catheterization for further anatomical clarification in neonates. (orig.)

  13. Multidetector computed tomography angiography in clinically suspected hyperacute ischemic stroke in the anterior circulation: an etiological workup in a cohort of Brazilian patients

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    Felipe Torres Pacheco

    2015-05-01

    Full Text Available Objective The potential of computed tomography angiography (CTA was assessed for early determination of stroke subtypes in a Brazilian cohort of patients with stroke. Method From July 2011 to July 2013, we selected patients with suspected hyperacute stroke (< 6 hours. Intracranial and cervical arteries were scrutinized on CTA and their imaging features were correlated with concurrent subtype of stroke. Results Stroke was documented in 50/106 selected patients (47.2% based on both clinical grounds and imaging follow-up (stroke group, with statistically significant arterial stenosis and vulnerable plaques on CTA. Intracranial large artery disease was demonstrated in 34% of patients in the stroke group. Partial territorial infarct prevailed (86% while artery-to-artery embolization was the most common stroke mechanism (52%. Conclusion Multidetector CTA was useful for the etiologic work-up of hyperacute ischemic stroke and facilitated the knowledge about the topographic pattern of brain infarct in accordance with its causative mechanism.

  14. Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene.

    Science.gov (United States)

    Cho, Hye-Kyung; Jeon, In Sang

    2014-03-01

    Severe congenital neutropenia (SCN) is a heterogeneous group of disorders with a defect in granulopoiesis causing marked neutropenia and severe bacterial infections. A 17-month-old girl (patient 1) was admitted due to cervical lymphadenitis caused by methicillin-resistant Staphylococcus aureus, with neutropenia. She had Pseudomonas aeruginosa sepsis and peritonitis with perforated appendicitis at 8-month of age. Her sister, a 37-month-old girl (patient 2), had recurrent stomatitis with profound neutropenia, and her mother, a 32-yr-old woman (patient 3), had had recurrent stomatitis until her early 20s with neutropenia. We found an ELANE gene mutation (c.597+1G > A) from them in direct DNA sequencing analysis. Patients 1 and 2 did not respond to granulocyte colony stimulating factor and patient 1 was treated with prolonged antibiotics and excision. We demonstrated inherited SCN cases showing different severity even with the same mutation of the ELANE gene in a family.

  15. Screening for congenital dislocation of the hip in the newborn: The role of clinical, ultrasonographic and radiographic examination

    International Nuclear Information System (INIS)

    Dunn, P.M.

    1987-01-01

    The concept of examining all young infants for congenital dislocation of the hip (CDH) dates back to Le Damany in 1914, though it was Ortolani who stimulated widespread clinical screening with the publication of his method of examination in 1948. His technique was improved by Barlow and others and is now often referred to as the Ortolani/Barlow manoeuvre. Meanwhile, following the method of Hilgenreiner, Putti advocated in 1933 radiological screening of all newborn hips. In 1958 Andren and Von Rosen described their new radiological technique in which hip subluxation was provoked prior to x-ray. Although radiological examination has been criticised as a screening method, it is still apparently widely used in Europe, especially in German-speaking countries. More recently dynamic sonographic examination of the hips has been used for neonatal screening

  16. [Congenital toxoplasmosis: clinical manifestation, treatment and follow-up] [Article in Italian] • Il neonato con toxoplasmosi congenita: clinica, terapia e follow-up

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    Lina Bollani

    2014-01-01

    Full Text Available Toxoplamosis is a parasitic zoonosis which occurs worldwide, but is prevalent in Europe, South America and Africa. When infection occurs for the first time during pregnancy, mother to child transmission of the parasite can cause congenital toxoplasmosis. Rate of congenital infection ranges from less than 0.1 to approximately 1 per 1,000 live births. The risk of transmission depends on the gestational age at the time of maternal infection. A diagnosis of congenital toxoplasmosis is usually considered in infants who present: hydrocephalus, chorioretinitis, and intracranial calcifications, but this triade is very rare. Approximately 85% of the infants with congenital toxoplasmosis are clinically normal at birth; however, sequelae of infection may become apparent only months or even years later. Chorioretinitis is the main complication of congenital toxoplasmosis, late onset retinal lesions and relapse can appear many years after birth, but the overall ocular prognosis is satisfactory when infection is identified and treated accordingly. Fortunately, serious neonatal forms and severe neurological impairment have become rare, but prompt treatment of children with convulsions, abnormal muscle tone, hydrocephalus, may improve the prognosis and result in almost normal outcome. For infants who have congenital toxoplasmosis, treatment soon after birth for 1 year with pyrimetamine, sulfadiazine and leukoverin led to remarkable resolution of serious, active disease. A long follow-up is necessary to assess the long-term outcome of children and young adults with congenital toxoplasmosis, that is favourable for the majority of cases. Epidemiological surveillance needs to be improved in order to determine the effectiveness of prevention programs.Articoli Selezionati del “3° Convegno Pediatrico del Medio Campidano” · Guspini · 25 Maggio 2013Guest Editor: Roberto Antonucci

  17. Congenital Pseudoarthrosis of Medial Malleolus in A Young Soccer Player – Diagnosis in Clinical setting of Ankle Sprain

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    Giuliano Cerulli

    2014-01-01

    Full Text Available Introduction: We report a case of a young female soccer player affected by congenital medial bilateral malleolus pseudoarthrosis and os subfibulare. Congenital pseudoarthrosis is the failure of the bones to fuse prior or at birth. The etiology is still unknown, although frequency is high in subjects affected by neurofibromatosis or correlated syndromes, so it has been suggested that these congenital disorders may be the cause of congenital pseudoarthrosis. Case Report: Our patient, a 16-year-old female, high level soccer player, was referred to us following a right ankle sprain during a match. She reported no medical history of tibia-tarsus joint injuries or disease. Pain, swelling and functional impairment were noted immediately after the accident. Standard radiographs in the emergency department revealed a displaced fracture of the medial malleolus and the presence of os subfibularis. The patient was transferred to our Traumatology and Orthopaedic Department to undergo malleolus ostheosynthesis. Before surgery swelling, functional impairment and intense pain at the medial malleolus level were confirmed. However, there was no radiological opening of ankle, instability or pronation pain; furthermore the flexion-extension was preserved with slight pain. Twenty-four hours later a considerable remission of symptoms was evident with increased range of motion and reduction in the swelling and post-traumatic edema. A radiograph on the left ankle to compare with that of the right ankle was necessary to overcome the discrepancy between the radiological diagnosis and the clinical examination. The radiographic results of both medial malleoli were comparable although on the left the os subfibularis was absent. Since the diagnosis of fracture by the association between the radiographs and the symptomatology was doubtful, a bilateral CT was performed. The scan revealed a medial bilateral malleolus pseudoarthrosis and an accessory right subfibularis nucleus

  18. Comparison of clinical features between suspected familial colorectal cancer type X and Lynch syndrome in Japanese patients with colorectal cancer: a cross-sectional study conducted by the Japanese Society for Cancer of the Colon and Rectum.

    Science.gov (United States)

    Yamaguchi, Tatsuro; Furukawa, Yoichi; Nakamura, Yusuke; Matsubara, Nagahide; Ishikawa, Hideki; Arai, Masami; Tomita, Naohiro; Tamura, Kazuo; Sugano, Kokichi; Ishioka, Chikashi; Yoshida, Teruhiko; Moriya, Yoshihiro; Ishida, Hideyuki; Watanabe, Toshiaki; Sugihara, Kenichi

    2015-02-01

    The characteristics of familial colorectal cancer type X are poorly defined. Here we aimed to clarify the differences in clinical features between suspected familial colorectal cancer type X and Lynch syndrome in Japanese patients. We performed germline mutation analyses of mismatch repair genes in 125 patients. Patients who met the Amsterdam Criteria I but lacked mismatch repair gene mutations were diagnosed with suspected familial colorectal cancer type X. We identified 69 patients with Lynch syndrome and 25 with suspected familial colorectal cancer type X. The frequencies of gastric and extracolonic Lynch syndrome-associated cancers were lower with suspected familial colorectal cancer type X than with Lynch syndrome. The number of organs with Lynch syndrome-associated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. The cumulative incidence of extracolonic Lynch syndrome-associated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. We estimated that the median cancer risk in 60-year-old patients with Lynch syndrome was 89, 36 and 24% for colorectal, endometrial and gastric cancers, respectively. Analyses of family members, including probands, revealed that the median age at diagnosis of extracolonic Lynch syndrome-associated cancer was significantly older with suspected familial colorectal cancer type X than with Lynch syndrome. The frequency of extracolonic Lynch syndrome-associated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. A significant difference in extracolonic Lynch syndrome-associated cancer was evident between suspected familial colorectal cancer type X and Lynch syndrome. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  19. Radiology of congenital heart disease

    International Nuclear Information System (INIS)

    Amplatz, K.

    1986-01-01

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

  20. Clinical implementation of an emergency department coronary computed tomographic angiography protocol for triage of patients with suspected acute coronary syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Ghoshhajra, Brian B.; Staziaki, Pedro V.; Vadvala, Harshna; Kim, Phillip; Meyersohn, Nandini M.; Janjua, Sumbal A.; Hoffmann, Udo [Massachusetts General Hospital and Harvard Medical School, Cardiac MR PET CT Program, Department of Radiology (Cardiovascular Imaging) and Division of Cardiology, Boston, MA (United States); Takx, Richard A.P. [Massachusetts General Hospital and Harvard Medical School, Cardiac MR PET CT Program, Department of Radiology (Cardiovascular Imaging) and Division of Cardiology, Boston, MA (United States); University Medical Center Utrecht, Department of Radiology, Utrecht (Netherlands); Neilan, Tomas G.; Francis, Sanjeev [Massachusetts General Hospital and Harvard Medical School, Cardiac MR PET CT Program, Department of Radiology (Cardiovascular Imaging) and Division of Cardiology, Boston, MA (United States); Massachusetts General Hospital and Harvard Medical School, Division of Cardiology, Boston, MA (United States); Bittner, Daniel [Massachusetts General Hospital and Harvard Medical School, Cardiac MR PET CT Program, Department of Radiology (Cardiovascular Imaging) and Division of Cardiology, Boston, MA (United States); University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuernberg (FAU), Department of Medicine 2 - Cardiology, Erlangen (Germany); Mayrhofer, Thomas [Massachusetts General Hospital and Harvard Medical School, Cardiac MR PET CT Program, Department of Radiology (Cardiovascular Imaging) and Division of Cardiology, Boston, MA (United States); Stralsund University of Applied Sciences, School of Business Studies, Stralsund (Germany); Greenwald, Jeffrey L. [Massachusetts General Hospital and Harvard Medical School, Department of Medicine, Boston, MA (United States); Truong, Quyhn A. [Massachusetts General Hospital and Harvard Medical School, Cardiac MR PET CT Program, Department of Radiology (Cardiovascular Imaging) and Division of Cardiology, Boston, MA (United States); Weill Cornell College of Medicine, Department of Radiology, New York, NY (United States); Abbara, Suhny [Massachusetts General Hospital and Harvard Medical School, Cardiac MR PET CT Program, Department of Radiology (Cardiovascular Imaging) and Division of Cardiology, Boston, MA (United States); UT Southwestern Medical Center, Department Cardiothoracic Imaging, Dallas, TX (United States); Brown, David F.M.; Nagurney, John T. [Massachusetts General Hospital and Harvard Medical School, Department of Emergency Medicine, Boston, MA (United States); Januzzi, James L. [Massachusetts General Hospital and Harvard Medical School, Division of Cardiology, Boston, MA (United States); Collaboration: MGH Emergency Cardiac CTA Program Contributors

    2017-07-15

    To evaluate the efficiency and safety of emergency department (ED) coronary computed tomography angiography (CTA) during a 3-year clinical experience. Single-center registry of coronary CTA in consecutive ED patients with suspicion of acute coronary syndrome (ACS). The primary outcome was efficiency of coronary CTA defined as the length of hospitalization. Secondary endpoints of safety were defined as the rate of downstream testing, normalcy rates of invasive coronary angiography (ICA), absence of missed ACS, and major adverse cardiac events (MACE) during follow-up, and index radiation exposure. One thousand twenty two consecutive patients were referred for clinical coronary CTA with suspicion of ACS. Overall, median time to discharge home was 10.5 (5.7-24.1) hours. Patient disposition was 42.7 % direct discharge from the ED, 43.2 % discharge from emergency unit, and 14.1 % hospital admission. ACS rate during index hospitalization was 9.1 %. One hundred ninety two patients underwent additional diagnostic imaging and 77 underwent ICA. The positive predictive value of CTA compared to ICA was 78.9 % (95 %-CI 68.1-87.5 %). Median CT radiation exposure was 4.0 (2.5-5.8) mSv. No ACS was missed; MACE at follow-up after negative CTA was 0.2 %. Coronary CTA in an experienced tertiary care setting allows for efficient and safe management of patients with suspicion for ACS. (orig.)

  1. Dienogest 2 mg Daily in the Treatment of Adolescents with Clinically Suspected Endometriosis: The VISanne Study to Assess Safety in ADOlescents.

    Science.gov (United States)

    Ebert, Andreas D; Dong, Liying; Merz, Martin; Kirsch, Bodo; Francuski, Maja; Böttcher, Bettina; Roman, Horace; Suvitie, Pia; Hlavackova, Olga; Gude, Kerstin; Seitz, Christian

    2017-10-01

    To study the safety and efficacy of dienogest 2 mg in adolescents with suspected endometriosis. A 52-week, open-label, single-arm study. In 21 study centers, in 6 European countries. Adolescents aged 12 to younger than 18 years with clinically suspected or laparoscopically confirmed endometriosis. Dienogest 2 mg once daily. The primary end point was relative change in lumbar spine (L2-L4) bone mineral density (BMD) measured using dual-energy x-ray absorptiometry. A key secondary end point was change in endometriosis-associated pain assessed using a visual analogue scale. Of 120 patients screened, 111 comprised the full-analysis set (ie, patients who took ≥1 dose of study drug and had ≥1 post-treatment observation) and 97 (87.4%) completed the study. Mean lumbar BMD at baseline was 1.1046 (SD, 0.1550) g/cm 2 . At the end of dienogest treatment (EOT; defined as at 52 weeks or premature study discontinuation), mean relative change in BMD from baseline was -1.2% (SD, 2.3%; n = 103). Follow-up measurement 6 months after EOT in the subgroup with decreased BMD at EOT (n = 60) showed partial recovery in lumbar BMD (mean change from baseline: -2.3% at EOT, -0.6% 6 months after EOT). Mean endometriosis-associated pain score was 64.3 (SD, 19.1) mm at baseline and decreased to 9.0 (SD, 13.9) mm by week 48. In adolescents with suspected endometriosis, dienogest 2 mg for 52 weeks was associated with a decrease in lumbar BMD, followed by partial recovery after treatment discontinuation. Endometriosis-associated pain was substantially reduced during treatment. Because bone accretion is critical during adolescence, results of the VISanne study to assess safety in ADOlescents (VISADO) study highlights the need for tailored treatment in this population, taking into account the expected efficacy on endometriosis-associated pain and an individual's risk factors for osteoporosis. Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published

  2. ["Re-evaluation upon suspected event" is an approach for post-marketing clinical study: lessons from adverse drug events related to Bupleuri Radix preparations].

    Science.gov (United States)

    Wu, Shu-Xin; Sun, Hong-Feng; Yang, Xiao-Hui; Long, Hong-Zhu; Ye, Zu-Guang; Ji, Shao-Liang; Zhang, Li

    2014-08-01

    We revisited the "Xiao Chaihu Decoction event (XCHDE)" occurred in late 1980s in Japan and the Bupleuri Radix related adverse drug reaction (ADR) reports in China After careful review, comparison, analysis and evaluation, we think the interstitial pneumonitis, drug induced Liver injury (DILI) and other severe adverse drug envents (ADEs) including death happened in Japan is probably results from multiple factors, including combinatory use of XCHDE with interferon, Kampo usage under modern medicine theory guidance, and use of XCHD on the basis of disease diagnosis instead of traditional Chinese syndrome complex differentiation. There are less ADE case reports related to XCHD preparation in China compared to Japan, mostly manifest with hypersensitivity responses of skin and perfuse perspiration. The symptoms of Radix Bupleuri injection related ADEs mainly manifest hypersensitivity-like response, 2 cases of intravenous infusion instead of intramuscular injection developed hypokalemia and renal failure. One case died from severe hypersensitivity shock. In Chinese literatures, there is no report of the interstitial pneumonitis and DILI associated with XCHDG in Japan. So far, there is no voluntary monitoring data and large sample clinical research data available. The author elaborated the classification of "reevaluation" and clarified "re-evaluation upon events" included the reaction to the suspected safety and efficacy events. Based on the current status of the clinical research on the Radix Bupleuri preparations, the author points out that post-marketing "re-evaluation upon suspected event" is not only a necessity of continuous evaluation of the safety, efficacy of drugs, it is also a necessity for providing objective clinical research data to share with the international and domestic drug administrations in the risk-benefit evaluation. It is also the unavoidable pathway to culture and push the excellent species and famous brands of TCM to the international market, in

  3. Clinical profile and management options of children with congenital esophageal stenosis: A single center experience

    Directory of Open Access Journals (Sweden)

    Jujju Jacob Kurian

    2016-01-01

    Full Text Available Aim: The aim of the study is to review 7 patients with congenital esophageal stenosis treated in our institution from a diagnostic and therapeutic point of view. Materials and Methods: This is a retrospective cohort study of 7 patients treated in Christian Medical College, Vellore from 2008 to 2014. The data were analyzed with regards to age at onset of symptoms, investigative findings, age at definitive treatment, pathology, modalities of treatment, and outcomes. Results: Symptoms started within the 1 st year of life in all children with a median age of 4 months. The time of delay in diagnosis ranged from 8 months to 81 months with a mean period of 37 months. About 6 patients had a lower esophageal stenosis and 1 patient had a mid-esophageal stenosis. About 4 of the 7 children underwent endoscopic balloon dilatation from elsewhere, with 2 of the above 4 undergoing a myotomy for a wrongly diagnosed achalasia. The number of dilatations ranged from 2 to 7 with a mean of 4 dilatations. Resection of the stenotic segment with end to end anastomosis was employed in 6 of the 7 patients, and a transverse colon interpositioning was done in 1 patient. An antireflux procedure was performed in one patient. Histopathological examination of the resected specimen revealed tracheobronchial remnant in 3 patients, fibromuscular thickening in 3 patients, and membranous web in 1 patient. Postoperatively, 2 of the 7 patients had asymptomatic gastroesophageal reflux and 1 patient had postoperative stricture requiring one session of endoscopic balloon dilatation. The mean follow-up period was 42 months (range 18-72 months. At the time of the last follow-up, all 7 patients were able to eat solid food, and none of the children were found to have symptoms suggestive of obstruction or gastroesophageal reflux. There was a statistically significant increase in the weight for age after the operation. Conclusion: Congenital esophageal stenosis is rare and often confused with

  4. Not the usual suspect: a case of erythema induration of Bazin in an urban primary care clinic

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    Ling Xu

    2015-12-01

    Full Text Available Frontline clinicians in the United States, especially those working in safety net hospitals or with immigrant populations, will likely see cutaneous tuberculosis given the tremendous burden of tuberculosis infection worldwide. The tuberculid is a subtype of cutaneous tuberculosis that poses a diagnostic challenge because organisms are not found in smears or cultures taken from the lesions. Tuberculid lesions can mimic erythema nodosum, thrombophlebitis, and cellulitis. We describe the case of a 57-year-old woman immigrant from China who presented with tender, subcutaneous nodules on her ankle and thigh in the setting of prior exposure to tuberculosis. We describe the clinical, pathophysiologic, and histopathologic features of tuberculids in order to raise awareness among primary care clinicians about this difficult to diagnose but readily treatable manifestation of tuberculosis.

  5. Disorder of Sexual Development and Congenital Heart Defect in 47XYY: Clinical Disorder or Coincidence?

    Directory of Open Access Journals (Sweden)

    Hanane Latrech

    2015-01-01

    Full Text Available Background. 47XYY syndrome is a rare sex chromosome variation characterized by an additional Y chromosome. Most patients with 47XYY karyotype have normal phenotype. This disorder seems associated with a higher risk of developing behavioral and cognitive problems, tall stature, and infertility in adulthood. Sexual development disorder is a rare finding. We report a first case with an abnormal left coronary artery originating from the pulmonary artery in a 47XYY patient. Case. A one-month-old child was referred for ectopic testis and micropenis. Physical examination revealed facial dysmorphia, micropenis, and curvature of the penis with nonpalpable testis. Laboratory tests showed decreased total testosterone and anti-Mullerian hormone (AMH levels. Blood karyotyping revealed a 47XYY chromosomal formula. At the age of 3 months, the patient developed dyspnea and tachycardia. Echocardiography revealed an anomalous left coronary artery from pulmonary artery with left ventricular dysfunction requiring surgical revascularization by direct reimplantation of the left coronary artery system. Our second case was a 3-year-old child referred for hypospadias with nonpalpable left testicle. Physical examination showed hypertelorism. Blood karyotyping revealed a 47XYY chromosomal formula. Conclusion. To our knowledge, this is the first case of 47XYY syndrome associated with this congenital heart malformation and a sexual development disorder.

  6. Fusion of lower limbs with severe urogenital malformation in a newborn, a rare congenital clinical syndrome: case report

    Directory of Open Access Journals (Sweden)

    Al Hadhoud F

    2017-09-01

    Full Text Available Fatemah Al Hadhoud,1 Abeer H Kamal,1 Abdulmohsen Al Anjari,1 Michael FE Diejomaoh1,2 1Department of Obstetrics and Gynecology, Maternity Hospital, 2Department of Obstetrics and Gynecology, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait Background: Fused lower limbs combined with severe urogenital malformation, also known as sirenomelia, is a rare congenital clinical syndrome. The etiology is unknown, and the outcome for the affected fetus is rather uncertain. Case report: Mrs RB, a Kuwaiti woman primigravida, married to a non-consanguineous husband, had uneventful antenatal care in a private health service, until she was admitted to the Maternity Hospital, Kuwait, at 31 weeks of gestation with a 3-hour history of ruptured membranes. She had a negative family history for diabetes mellitus, and her past surgical/medical/gynecological history was noncontributory. General physical examination revealed a healthy parturient with normal vital signs, clear lungs and normal heart sounds. Obstetric examination revealed a fundal height compatible with the gestational age; there was a single living fetus in breech presentation; she was not in labor. The mother was managed conservatively with antibiotics and dexamethasone injections. Labor ensued later, progressing rapidly to the second stage. Assisted breech delivery was performed, and a live baby, birth weight 1570 g and Apgar score 3/9, was delivered. The neonate had multiple congenital abnormalities, including fusion of both lower limbs, ambiguous genitalia, cloacal anomaly and tracheoesophageal fistula. The neonate was admitted to the neonatal intensive care unit, fully investigated, managed medically and surgically and eventually discharged home after a hospital stay of 123 days for further management. Conclusion: A case of peculiar fetal anomaly called sirenomelia, the first case in Kuwait, has been presented. Survival of such babies requires costly management with average results

  7. 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.

  8. From clinical suspect to molecular confirmation of noonan syndrome; contribution of “best practice” genetic counseling and new technical possibilities

    Directory of Open Access Journals (Sweden)

    Bukvic Nenad

    2015-01-01

    Full Text Available Noonan syndrome (NS is an autosomal dominant disorder, characterized by variable expressivity of clinical features such as: postnatal growth reduction, congenital heart disease, characteristic facial dysmorphisms and development delay. In ~75% of all NS cases, germline mutations involving RAS-MAPK signaling pathway genes (PTPN11, SOS1, RAF1, KRAS, NRAS, BRAF, SHOC2, MEK1, CBL are causative. We reported a case of 13-year-old girl [born at 36w by CS (BW 3250 g (~95°, BL 48 cm (~75°] referred for genetic counseling due to growth retardation, facial dysmorphisms, development delay and learning disability. After birth she presented frequent vomiting, with failure to thrive and at 5 months of age underwent surgery for intestinal malrotation. Because of short stature, Growth Hormone (GH therapy have been introduced at age of 3yrs up to 11yrs. Negative molecular testing for PTPN11 and SOS1 genes, normal female karyotype and aCGH analysis were observed. Objective examination: H 138 cm, (A; p.Val14Ile has been identified. Even though KRAS mutations are usually associated with NS severe phenotype with cardiac involvement (hypertrophic cardiomyopathy, this finding is not present in our patient.

  9. Effect of steroids on inflammatory markers and clinical parameters in congenital open heart surgery: a randomised controlled trial.

    Science.gov (United States)

    Amanullah, Muhammad M; Hamid, Mohammad; Hanif, Hashim M; Muzaffar, Marium; Siddiqui, Maria T; Adhi, Fatima; Ahmad, Khabir; Khan, Shahjahan; Hasan, Zahra

    2016-03-01

    Cardiopulmonary bypass is associated with systemic inflammatory response. Steroids suppress this response, although the therapeutic evidence remains controversial. We hypothesised that intravenous steroids in children undergoing open-heart surgery would decrease inflammation leading to better early post-operative outcomes. We conducted a randomised controlled trial to evaluate the trends in the levels of immunomodulators and their effects on clinical parameters. To assess the effects of intravenous steroids on early post-operative inflammatory markers and clinical parameters in children undergoing open-heart surgery. A randomised controlled trial involving 152 patients, from one month up to 18 years of age, who underwent open-heart surgery for congenital heart disease from April 2010-2012 was carried out. Patients were randomised and administered either three scheduled intravenous pulse doses of dexamethasone (1 mg/kg) or placebo. Blood samples were drawn at four time intervals and serum levels of inflammatory cytokines - Interleukin-6, 8, 10, 18, and tumour necrosis factor-alpha - were measured. Clinical parameters were also assessed. Blood cytokine levels were compared between the dexamethasone (n=65) and placebo (n=64) groups. Interleukin-6 levels were lower at 6 and 24 hours post-operatively (p<0.001), and Interleukin-10 levels were higher 6 hours post-operatively (p<0.001) in the steroid group. Interleukin-8, 18, and tumour necrosis factor-alpha levels did not differ between the groups at any time intervals. The clinical parameters were similar in both the groups. Dexamethasone caused quantitative suppression of Interleukin-6 and increased Interleukin-10 activation, contributing to reduced immunopathology, but it did not translate into clinical benefit in the short term.

  10. Electron beam CT diagnosis of congenital unilateral absence of pulmonary artery

    International Nuclear Information System (INIS)

    Zhou Yuan; Dai Ruping; Cao Cheng; Zhang Gejun; Jing Baolian

    2003-01-01

    Objective: To evaluate the clinical value of electron beam CT (EBCT) in diagnosing congenital unilateral absence of pulmonary artery (UAPA). Methods: Patients with clinically suspected pulmonary artery disease or primary pulmonary hypertension underwent EBCT scanning. EBCT confirmed the diagnosis of UAPA in 11 patients, who were also evaluated with echocardiography and chest roentgenography. Cardioangiography and nuclear ventilation-perfusion scan were performed in some patients for a comparative study. Results: 4 female adults had UAPA with out associated congenital anomaly. 3 male children with coexisting complex congenital abnormality had unilateral absence of the left pulmonary artery and 4 patients coexisted other simple cardiovascular anomaly. EBCT scanning simultaneously displayed topographic pattern of both unilateral absence of pulmonary artery and coexisting congenital cardiovascular anomaly, as well as lung diseases. Conclusion: UAPA diagnosed in childhood usually has unilateral absence of the left pulmonary artery and associated congenital cardiovascular anomaly, while UAPA diagnosed in adult usually has UAPA on the right side without associated congenital anomaly. EBCT is one of the optimal imaging techniques in diagnosing UAPA and it greatly increases the diagnostic efficacy than echocardiography dose. Both EBCT and cardioangiography have their own advantages, however, EBCT, as a noninvasive method, should be complementary and not exclusive

  11. Congenital Heart Disease and Impacts on Child Development

    Directory of Open Access Journals (Sweden)

    Mariana Alievi Mari

    2016-02-01

    Full Text Available Abstract Objective: To evaluate the child development and evaluate a possible association with the commitment by biopsychosocial factors of children with and without congenital heart disease. Methods: Observational study of case-control with three groups: Group 1 - children with congenital heart disease without surgical correction; Group 2 - children with congenital heart disease who underwent surgery; and Group 3 - healthy children. Children were assessed by socio-demographic and clinical questionnaire and the Denver II Screening Test. Results: One hundred and twenty eight children were evaluated, 29 in Group 1, 43 in Group 2 and 56 in Group 3. Of the total, 51.56% are girls and ages ranged from two months to six years (median 24.5 months. Regarding the Denver II, the children with heart disease had more "suspicious" and "suspect/abnormal" ratings and in the group of healthy children 53.6% were considered with "normal" development (P≤0.0001. The biopsychosocial variables that were related to a possible developmental delay were gender (P=0.042, child's age (P=0.001 and income per capita (P=0.019. Conclusion: The results suggest that children with congenital heart disease are likely to have a developmental delay with significant difference between children who have undergone surgery and those awaiting surgery under clinical follow-up.

  12. Brain MRI findings in infants with primary congenital glaucoma

    International Nuclear Information System (INIS)

    Dai, A. Ibrahym; Saygili, O.

    2007-01-01

    Congenital glaucoma appears in the first months of life, eventually at birth. Isolated congenital glaucoma is characterized by minor malformations of the irido-corneal angle of the anterior chamber of the eye. Clinical manifestations include tearing, photophobia and enlargement of the globe appearing in the first months of life. Imaging technology such as optical coherence tomography and measurement of central corneal thickness may play an important role in the assessment of children with suspected or known glaucoma. However, no MRI findings of the CNS in patients with primary congenital glaucoma (PCG) were reported in the literature. The purpose of this study was to investigate MRI findings of the brain in infants with PCG. We reviewed the radiological and histopathological and clinical characteristics of infants with primary congenital glaucoma. The records of 17 patients with PCG were reviewed and the MRIs of the brain and associated manifestations were analyzed. Three patients with PCG had abnormal MRI findings suggesting agenesis of the corpus callosum. Two infants had delayed myelinization of the brain. Significant abnormal optic nerve excavation and increased corneal diameters in 2 patients with delayed myelinization may suggest that intraocular pressure can be more striking and more severe, revealing a close relationship with PCG and abnormal myelinization in white matter. Studies with more patients are needed to confirm these results. (author)

  13. Diagnostic pitfalls in the assessment of congenital hypopituitarism.

    Science.gov (United States)

    Cavarzere, Paolo; Biban, Paolo; Gaudino, Rossella; Perlini, Silvia; Sartore, Lorenzo; Chini, Lorenza; Silvagni, Davide; Antoniazzi, Franco

    2014-12-01

    The diagnosis of congenital hypopituitarism is difficult and often delayed because its symptoms are nonspecific. To describe the different clinical presentations of children with congenital hypopituitarism to reduce the time for diagnosis and to begin a precocious and appropriate treatment. We analyzed a cohort of five children with congenital hypopituitarism, describing their clinical, biochemical and radiological characteristics from the birth to diagnosis. As first sign of the disease, all of five patients presented a neonatal hypoglycemia, associated in four cases with jaundice. In all these four cases, the clinicians hypothesized a metabolic disease delaying the diagnosis, which was performed in only two cases within the neonatal period. In the other three cases, the diagnosis was formulated at 2, 5 and 8 years of life because there was severe and precocious growth impairment. It is important to suspect congenital hypopituitarism in the presence of persistent neonatal hypoglycemia associated with jaundice and of a precocious and severe reduction of the growth velocity in childhood. In all these cases, it is necessary to undertake a hypothalamic-pituitary magnetic resonance imaging scan as soon as possible, and to start appropriate treatment.

  14. Utility of CT after sonography for suspected appendicitis in children: integration of a clinical scoring system with a staged imaging protocol.

    Science.gov (United States)

    Srinivasan, Abhay; Servaes, Sabah; Peña, Andrès; Darge, Kassa

    2015-02-01

    To improve diagnosis of pediatric appendicitis, many institutions have implemented a staged imaging protocol utilizing ultrasonography (US) first and then computed tomography (CT). A substantial number of children with suspected appendicitis undergo CT after US, and the efficient and accurate diagnosis of pediatric appendicitis continues to be challenging. The objective of the study is to characterize the utility of CT following US for diagnosis of pediatric appendicitis, in conjunction with a clinical appendicitis score (AS). Imaging studies of children with suspected appendicitis who underwent CT after US in an imaging protocol were retrospectively reviewed by three radiologists in consensus. Chart review derived the AS (range 0-10) and obtained the patient diagnosis and disposition, and an AS was applied to each patient. Clinical and radiologic data were analyzed to assess the yield of CT after US. Studies of 211 children (mean age 11.3 years) were included. The positive threshold for AS was determined to be 6 out of 10. When AS and US were concordant (N = 140), the sensitivity and specificity of US were similar to CT. When AS and US were discordant (N = 71) and also when AS ≥ 6 (N = 84), subsequent CT showed superior sensitivity and specificity to US alone. In the subset where US showed neither the appendix nor inflammatory change in the right lower quadrant (126/211, 60 % of scans), when AS 6 (kg/year, P < 0.001) and after-hours (1700 -0730 hours) performance of US (P < 0.001). Results suggest that the appendicitis score has utility in guiding an imaging protocol and support the contention that non-visualization of the appendix on US is not intrinsically non-diagnostic. There was little benefit to additional CT when AS < 6 and US did not show the appendix or evidence of inflammation; this would have avoided CT in 140/211 (66 %) patients. CT demonstrated benefit when AS ≥ 6, suggesting that cases with AS ≥ 6 and

  15. CCT and sonographic findings in congenital craniopharyngioma

    Energy Technology Data Exchange (ETDEWEB)

    Helmke, K.; Hausdorf, G.; Moehrs, D.; Laas, R.

    1984-11-01

    In a case of congenital craniopharyngioma results of the sonographic and CCT examinations are reported and compared with postmortem macroscopic cuts. Comparison is made of clinical data from six cases with congenital craniopharyngioma as reported in the literature.

  16. CCT and sonographic findings in congenital craniopharyngioma

    International Nuclear Information System (INIS)

    Helmke, K.; Hausdorf, G.; Moehrs, D.; Laas, R.

    1984-01-01

    In a case of congenital craniopharyngioma results of the sonographic and CCT examinations are reported and compared with postmortem macroscopic cuts. Comparison is made of clinical data from six cases with congenital craniopharyngioma as reported in the literature. (orig.)

  17. Clinical, biological and genetic analysis of 8 cases of congenital isolated adrenocorticotrophic hormone (ACTH deficiency.

    Directory of Open Access Journals (Sweden)

    Luu-Ly Pham

    Full Text Available Congenital isolated adrenocorticotrophic hormone (ACTH deficiency may be rare, but it could be an underestimated cause of neonatal death. Our objective was to shorten the time between first symptoms and diagnosis.This single-centre retrospective case-cohort study was carried out on eight consecutive patients.Two had the neonatal form and 6 the late onset form. Six were admitted to an intensive care unit at least once for seizures with hypoglycemia, major hypothermia, fever, and/or collapsus. The 2 neonatal cases presented with hypoglycemia and in a state of "apparent death" at birth or hypothermia (29°C at 6 days. All 6 late onset cases had also been admitted to an emergency department 1-3 times, but had left hospital incorrectly diagnosed. Their first symptoms were noted at 3-12.3 years, and they were diagnosed at 3.3-14.4 years. All had hypoglycemia, and 4 had had seizures. The presenting symptoms were vomiting and/or abdominal pain, asthenia, irritability, difficulty with physical activities, and anorexia. The school performance of 4 deteriorated. Two underwent psychotherapy and treatment for depression, which was stopped when Hydrocortisone® replacement therapy began. The plasma concentrations in spontaneous hypoglycemia were: ACTH<5 to 17.1 pg/mL, with concomitant cortisol <3.5 to 37 ng/mL. The plasma dehydroepiandrosterone sulfate (DHAS concentrations were low in the 7 evaluated. The coding sequence of TPIT was normal in all.Several unexplained symptoms in a child, mainly gastro-intestinal symptoms and seizures due to hypoglycemia, may indicate ACTH deficiency. A low or normal basal plasma ACTH despite concomitant low cortisol at 8 a.m. and/or in spontaneous hypoglycemia, associated with low DHAS, in a patient not given corticosteroids is highly suggestive of ACTH deficiency. The isolated character of ACTH deficiency must be confirmed by determining the other hypothalamic-pituitary functions, and Hydrocortisone® replacement therapy

  18. Congenital orbital teratoma.

    Science.gov (United States)

    Aiyub, Shereen; Chan, Wengonn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

    2013-12-01

    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.

  19. 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.

  20. Suspected clinical-radiological discord

    African Journals Online (AJOL)

    by a House Officer in Mpilo Central Hospital, a Teaching. Hospital in Zimbabwe. He had complained of malaise, loss of appetite and epigastric discomfort for two weeks. He did not take alcoholic drinks. Systematic enquiry was unremarkable. On examination he looked generally well. His body temperature was 36.80 C. The ...

  1. Clinical value of FDG PET/CT in the diagnosis of suspected recurrent ovarian cancer: is there an impact of FDG PET/CT on patient management?

    International Nuclear Information System (INIS)

    Bilici, Ahmet; Ustaalioglu, Bala Basak Oven; Seker, Mesut; Salepci, Taflan; Gumus, Mahmut; Canpolat, Nesrin; Tekinsoy, Bulent

    2010-01-01

    The aim of this study was to evaluate the clinical value of FDG PET/CT in patients with suspected ovarian cancer recurrence as compared with diagnostic CT, and to assess the impact of the results of FDG PET/CT on treatment planning. Included in this retrospective study were 60 patients with suspected recurrent ovarian cancer who had previously undergone primary debulking surgery and had been treated with adjuvant chemotherapy. Diagnostic CT and FDG PET/CT imaging were performed for all patients as clinically indicated. The changes in the clinical management of patients according to the results of FDG PET/CT were also analysed. FDG PET/CT was performed in 21 patients with a previously negative or indeterminate diagnostic CT scan, but an elevated CA-125 level, and provided a sensitivity of 95% in the detection of recurrent disease. FDG PET/CT revealed recurrent disease in 19 patients. In 17 of 60 patients, the indication for FDG PET/CT was an elevated CA-125 level and an abnormal diagnostic CT scan to localize accurately the extent of disease. FDG PET/CT scans correctly identified recurrent disease in 16 of the 17 patients, a sensitivity of 94.1%. Moreover, FDG PET/CT was performed in 18 patients with clinical symptoms of ovarian cancer recurrence, an abnormal diagnostic CT scan, but a normal CA-125 level. In this setting, FDG PET/CT correctly confirmed recurrent disease in seven patients providing a sensitivity of 100% in determining recurrence. In four patients, FDG PET/CT was carried out for the assessment of treatment response. Three of four scans were classified as true-negative indicating a complete response. In the other patient, FDG PET/CT identified progression of disease. In total, 45 (75%) of the 60 patients had recurrent disease, in 14 (31.1%) documented by histopathology and in 31 (68.9%) on clinical follow-up, while 15 (25%) had no evidence of recurrent disease. The overall sensitivity, specificity, accuracy, and positive and negative predictive value

  2. Assessment of Clinically Suspected Tubercular Lymphadenopathy by Real-Time PCR Compared to Non-Molecular Methods on Lymph Node Aspirates.

    Science.gov (United States)

    Gupta, Vivek; Bhake, Arvind

    2018-01-01

    The diagnosis of tubercular lymphadenitis (TBLN) is challenging. This study assesses the role of diagnostic intervention with real-time PCR in clinically suspected tubercular lymphadenopathy in relation to cytology and microbiological methods. The cross-sectional study involved 214 patients, and PCR, cytology, and Ziehl-Neelsen (ZN) staining was performed on aspirates. The findings were compared with culture on Lowenstein-Jensen medium. The overall concordance of cytology and PCR, both individually and combined, was calculated. χ2 and Phi values were assessed between cytology, PCR, and culture. A cytological diagnosis of tuberculosis (TB), reactive lymphoid hyperplasia, and suppurative lymphadenitis was made in 71, 112, and 6 patients, respectively. PCR and culture were positive in 40% of the cases. Among the TBLN patients, PCR showed higher positivity in necrosis and culture showed higher positivity in necrotizing granuloma. Positive ZN staining was observed in 29.6% of the TBLN cases, with an overall positivity of 11%. PCR could additionally detect 82 cases missed by ZN staining. The overall concordance rate for either diagnostic modality, i.e., PCR or cytology, was highest (75%), and for PCR alone was 74%. Phi values were observed to be 0.47 between PCR and culture. Real-time PCR for Mycobacterium tuberculosis complex on aspirates offers a definitive and comparable diagnosis of TBLN. Including this approach as the primary investigation in the work-up of TBLN could reduce the burden of TB. © 2017 S. Karger AG, Basel.

  3. Clinical Profile of Suspected and Confirmed H1N1 Influenza Infection in Patients admitted at a Tertiary Care Teaching Hospital

    Directory of Open Access Journals (Sweden)

    Basavaraju Jayadeva

    2015-11-01

    Full Text Available Introduction: This study aimed to evaluate the clinical profile and outcomes of adult patients screened and diagnosed with H1N1 influenza infection at a tertiary care hospital in India. Materials and Methods: This retrospective  study was conducted on all adult patients suspected of H1N1 influenza admitted at a teaching hospital during the epidemic period of January-March 2015. Patients were screened and classified into three categories of A, B, and C based on international guidelines. Home confinement was recommended for patients in category A, and subjects in category B received treatment with Oseltamivir capsules. In addition, patients in category C received inpatient treatment with oseltamivir capsules. Results: In total, 695 patients were screened for H1N1 influenza infection during the epidemic, out of whom 380 patients (54.6% were in category A, 264 (37.9% were in category B, and 51 (7.3% were in category C. Throat swabs were collected and examined for 192 ( 27.6% patients, and 59 ( 8.4% cases were positive for H1N1 infection. Conclusion: According to the results of this study, close vigilance over the symptoms of patients infected with H1N1 influenza is more important than treatment and screening of suspicious cases during the epidemics of this infection. This is a retrospective cross sectional study. Hence, there were no comparative controls. The limitation of this study is,  thus the lack of control.

  4. 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.

  5. Clinical value of patient-specific three-dimensional printing of congenital heart disease: Quantitative and qualitative assessments

    Science.gov (United States)

    Lau, Ivan Wen Wen; Liu, Dongting; Xu, Lei; Fan, Zhanming

    2018-01-01

    Objective Current diagnostic assessment tools remain suboptimal in demonstrating complex morphology of congenital heart disease (CHD). This limitation has posed several challenges in preoperative planning, communication in medical practice, and medical education. This study aims to investigate the dimensional accuracy and the clinical value of 3D printed model of CHD in the above three areas. Methods Using cardiac computed tomography angiography (CCTA) data, a patient-specific 3D model of a 20-month-old boy with double outlet right ventricle was printed in Tango Plus material. Pearson correlation coefficient was used to evaluate correlation of the quantitative measurements taken at analogous anatomical locations between the CCTA images pre- and post-3D printing. Qualitative analysis was conducted by distributing surveys to six health professionals (two radiologists, two cardiologists and two cardiac surgeons) and three medical academics to assess the clinical value of the 3D printed model in these three areas. Results Excellent correlation (r = 0.99) was noted in the measurements between CCTA and 3D printed model, with a mean difference of 0.23 mm. Four out of six health professionals found the model to be useful in facilitating preoperative planning, while all of them thought that the model would be invaluable in enhancing patient-doctor communication. All three medical academics found the model to be helpful in teaching, and thought that the students will be able to learn the pathology quicker with better understanding. Conclusion The complex cardiac anatomy can be accurately replicated in flexible material using 3D printing technology. 3D printed heart models could serve as an excellent tool in facilitating preoperative planning, communication in medical practice, and medical education, although further studies with inclusion of more clinical cases are needed. PMID:29561912

  6. NINDS Common Data Elements for Congenital Muscular Dystrophy Clinical Research: A National Institute for Neurological Disorders and Stroke Project.

    Science.gov (United States)

    Lawlor, Michael W; Iannaccone, Susan T; Mathews, Katherine; Muntoni, Francesco; Alai-Hansen, Sherita; Odenkirchen, Joanne C; S Feldman, Robin

    2018-01-01

    A Congenital Muscular Dystrophy (CMD) Working Group (WG) consisting of international experts reviewed common data elements (CDEs) previously developed for other neuromuscular diseases (NMDs) and made recommendations for all types of studies on CMD. To develop a comprehensive set of CDEs, data definitions, case report forms and guidelines for use in CMD clinical research to facilitate interoperability of data collection, as part of the CDE project at the National Institute of Neurological Disorders and Stroke (NINDS). One working group composed of ten experts reviewed existing NINDS CDEs and outcome measures, evaluated the need for new elements, and provided recommendations for CMD clinical research. The recommendations were compiled, internally reviewed by the CMD working group, and posted online for external public comment. The CMD working group and the NIH CDE team reviewed the final version before release. The NINDS CMD CDEs and supporting documents are publicly available on the NINDS CDE website (https://www.commondataelements.ninds.nih.gov/CMD.aspx#tab=Data_Standards). Content areas include demographics, social status, health history, physical examination, diagnostic tests, and guidelines for a variety of specific outcomes and endpoints. The CMD CDE WG selected these documents from existing versions that were generated by other disease area working groups. Some documents were tailored to maximize their suitability for the CMD field. Widespread use of CDEs can facilitate CMD clinical research and trial design, data sharing and retrospective analyses. The CDEs that are most relevant to CMD research are like those generated for other NMDs, and CDE documents tailored to CMD are now available to the public. The existence of a single source for these documents facilitates their use in research studies and offers a clear mechanism for the discussion and update of the information as knowledge is gained.

  7. The impact of dermatology consultation on diagnostic accuracy and antibiotic use among patients with suspected cellulitis seen at outpatient internal medicine offices: a randomized clinical trial.

    Science.gov (United States)

    Arakaki, Ryan Y; Strazzula, Lauren; Woo, Elaine; Kroshinsky, Daniela

    2014-10-01

    Cellulitis is a common and costly problem, often diagnosed in the outpatient setting. Many cutaneous conditions may clinically mimic cellulitis, but little research has been done to assess the magnitude of the problem. To determine if obtaining dermatology consultations in the outpatient primary care setting could assist in the diagnosis of pseudocellulitic conditions and reduce the rate of unnecessary antibiotic use. Nonblinded randomized clinical trial of competent adults who were diagnosed as having cellulitis by their primary care physicians (PCPs), conducted at outpatient internal medical primary care offices affiliated with a large academic medical center. Outpatient dermatology consultation. Primary outcomes were final diagnosis, antibiotic use, and need for hospitalization. A total of 29 patients (12 male and 17 female) were enrolled for participation in this trial. Nine patients were randomized to continue with PCP management (control group), and 20 patients were randomized to receive a dermatology consultation (treatment group). Of the 20 patients in the dermatology consultation group, 2 (10%) were diagnosed as having cellulitis. In the control group, all 9 patients were diagnosed as having cellulitis by PCPs, but dermatologist evaluation determined that 6 (67%) of these patients had a psuedocellulitis rather than true infection. All 9 patients (100%) in the control group were treated for cellulitis with antibiotics vs 2 patients (10%) in the treatment group (P Dermatology consultation in the primary care setting improves the diagnostic accuracy of suspected cellulitis and decreases unnecessary antibiotic use in patients with pseudocellulitic conditions. Obtaining an outpatient dermatology consultation may be a cost-effective strategy that improves quality of care. clinicaltrials.gov Identifier:NCT01795092.

  8. Assessment of follow-up sonography and clinical improvement among infants with congenital muscular torticollis.

    Science.gov (United States)

    Park, H-J; Kim, S S; Lee, S-Y; Lee, Y-T; Yoon, K; Chung, E-C; Rho, M-H; Kwag, H-J

    2013-04-01

    Infants grow rapidly, which causes the SCM to thicken physiologically. Therefore some cases of physiologically-thickened SCM can be confused with a poor response to physical therapy. There have been only a few quantitative ultrasonographic studies on the clinical outcome of rehabilitation for CMT. Our aim was to evaluate whether a new sonographic assessment method that uses the muscular thickness ratio of the SCM can help quantify the outcome of rehabilitation therapy for patients with CMT. We evaluated 48 patients (male/female, 17:31; mean age, 3.9 months) who were diagnosed with CMT and who underwent initial and follow-up sonography. The ratio of the thickness of the involved SCM to the thickness of the intact SCM (SCM thickness ratio) was calculated. A scoring system based on the range of motion of the neck was used to assess clinical improvement. The correlations between clinical improvement and the thickness of the involved muscle, the difference in involved muscle thickness, the SCM thickness ratio, and the difference in the SCM thickness ratio were evaluated with Spearman rank correlations. Follow-up Cheng scores were higher than initial scores; this difference indicates clinical resolution (follow-up, 4.90; initial, 3.38). The SCM thickness ratio at follow-up was lower than that at the initial evaluation (follow-up, 1.29-1.34; initial, 1.65-1.77). Intra- and interobserver agreements were excellent. Most variables were moderately correlated with clinical improvement (correlation coefficients, 0.36-0.509). R1 showed the highest correlation with clinical improvement (0.481 and 0.509), followed by the initial maximal thickness of the SCM (0.434 and 0.488). ΔP (P1-P2) and ΔR showed similar correlation coefficients with clinical improvement. Measurement of the SCM thickness ratio appears to overcome the problem of a false-positive diagnosis of clinical aggravation of CMT resulting from physiologic growth. R1 and ΔR are accurate objective measurements, which

  9. Congenital tuberculosis

    African Journals Online (AJOL)

    Prof Ezechukwu

    2012-06-20

    Jun 20, 2012 ... Key words: Congenital tuberculo- sis, case report, miliary tuberculosis. Introduction. Congenital tuberculosis defines tuberculosis in infants of .... tary TB and otitis media, resulting in seizures, deafness, and death. It is therefore not surprising that the index case who presented at twelve weeks of age, had ...

  10. Congenital Abnormalities

    Science.gov (United States)

    ... tube defects. However, there is also a genetic influence to this type of congenital anomaly. Unknown Causes The vast majority of congenital abnormalities have no known cause. This is particularly troubling for parents who plan to have more children, because there is no way to predict if ...

  11. 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.

  12. Medico-legal aspects of congenital heart diseases in buying and selling of pets

    Directory of Open Access Journals (Sweden)

    Annamaria Passantino

    2017-01-01

    Full Text Available Aim: The veterinarian should be able to assess congenital and inherited malformations such as heart defects because they may be object of legal disputes. In this study, the authors report some cases of congenital heart defects in pets (dogs and cats to clarify whether or not they may be considered a redhibitory defect. Materials and Methods: A total of 28 medical records of pets referred with suspected congenital heart disease were examined. All patients aged between 3 and 24 months underwent clinical examination, chest X-ray examination, electrocardiogram, and echocardiography and angiocardiography when necessary. Results: Congenital heart diseases or associated cardiac malformations were confirmed. Considering the above congenital diseases as redhibitory defect and the rights of the owners from a strictly legal viewpoint, 9 owners demanded an estimatory action and 11 a redhibitory action; 1 owner decided to demand the reimbursement of veterinary expenses because the animal died; 7 owners took no legal action but requested surgical intervention. Conclusions: Until more appropriate and detailed legislation on the buying and selling of pet animals is put in place; the authors propose to include in the contract a temporal extension of the guarantee relating to congenital heart disease, which can often become evident later.

  13. Newborn screening for congenital hypothyroidism in a public sector hospital

    International Nuclear Information System (INIS)

    Ghafoor, F.; Mohsin, S.N.; Mukhtar, S.; Hussain, W.

    2013-01-01

    Background: Congenital hypothyroidism if left untreated results in growth failure, irreversible mental retardation, and cretinism. National neonatal screening programs are therefore, launched to diagnose congenital hypothyroidism and manage it timely. Objectives: To screen new borns for congenital hypothyroidism in two public sector hospitals of Lahore. Study type, settings and duration:Cross sectional descriptive study conducted at departments of Gynae/Obs and Pediatric Shaikh Zayed Hospital and Jinnah Hospital, Lahore from February 2010 to November 2011. Subjects and Methods: Awareness brochures for congenital hypothyroidism were developed and attached with the antenatal card of each pregnant case attending antenatal clinic at Gynae/Obs OPD. Newborns who had stayed in hospital for more than 24 hour, and whose parents consented for heal prick were tested for blood spot thyroid-stimulating hormone. Results were reported within four days and thyroid-stimulating hormone >= 20mIU/L was taken as high value. Parents of those neonates who had high value were contacted to give a fresh sample for confirmation. Confirmed results were provided within next 4-5 days to the parents and treating pediatrician for appropriate treatment. Results: A total of 1357 samples were screened using blood spot thyroid-stimulating hormone and out of these 1330 were normal ( =20mIU/L). These 27 neonates were further tested using confirmatory tests For serum thyroid-stimulating hormone, T3 and T4. After confirmatory tests only one case had congenital hypothyroidism who was referred for treatment. Three cases were suspected to have subclinical hypothyroidism and these were retested after six months which, picked another case of confirmed subclinical hypothyroidism who was referred for treatment. The incidence of congenital hypothyroidism was 2 out of 1357 cases. Conclusion: The screening could pick 2 cases of hypothyroidism from a total of 1357 cases which is high when compared to global rates

  14. Congenital segmental dilatation of jejunoileal region in a newborn: Unusual clinical and radiologic presentation

    Directory of Open Access Journals (Sweden)

    Harjai M

    2010-01-01

    Full Text Available Segmental dilatation of the ileum is one of the uncommon causes of intestinal obstruction in neonates. We present a case of slow transit of bowel contents leading to suspicion of functional bowel obstruction in a new born, which on exploration turned out to be a case of segmental dilatation of the jejuno-ileal region. The clinical and radiological evaluation was suggestive of hypomotility disorder of gut, resulting in diagnostic dilemma and delayed surgical intervention.

  15. Comparison of Clinical Findings of Congenital Muscular Torticollis Between Patients With and Without Sternocleidomastoid Lesions as Determined by Ultrasonography.

    Science.gov (United States)

    Han, Mi-Hyang; Kang, Jin Young; Do, Hyun Jung; Park, Hyun Suk; Noh, Hyun Jin; Cho, Yun-Hwa; Jang, Dae-Hyun

    2017-08-02

    To compare clinical findings for patients with congenital muscular torticollis (CMT) between those with and without a sternocleidomastoid (SCM) lesion. Medical records of 182 patients with CMT were retrospectively reviewed and the patients were divided into SCM lesion and nonlesion groups by ultrasonographic results. Intrauterine position, age, duration of therapy, rotation/tilting side, and the passive range of motion and angle of the neck were compared. There were 74 SCM lesion and 108 nonlesion cases. The mean age at the first visit was 55.3 days in the SCM lesion group and 146.6 days in the nonlesion group. The mean therapy time in the nonlesion group was 66.5 days, significantly shorter than for the SCM lesion group (117.5 d). Tilting and rotation of the head in the same direction was observed only in the nonlesion group (n=9, 8.3%). Rotational limitation of the affected muscle side was 22.6 degree in the SCM lesion and 3.6 degree in the nonlesion group, and the tilting limitation was 19.2 degree in the SCM lesion and 10.4 degree in the nonlesion group. The nonlesion group had a better prognosis with shorter treatment duration. This group was more limited in head tilting than in head rotation, and the pattern of head rotation/tilting in the same direction was observed only in this group. These findings suggest that pathophysiological mechanisms and clinical characteristics may differ between CMT patients with and without SCM lesions. Level II-prognostic studies, retrospective study.

  16. Clinicians' perspectives on patient satisfaction in adult congenital heart disease clinics--a dimension of health care quality whose time has come.

    Science.gov (United States)

    Rozenblum, Ronen; Gianola, Ann; Ionescu-Ittu, Raluca; Verstappen, Amy; Landzberg, Michael; Gurvitz, Michelle; Jenkins, Kathy; Bates, David W; Marelli, Ariane J

    2015-01-01

    Patient-centered care and patient satisfaction represent key dimensions of health care quality. This is relevant for the growing number of patients with life-long conditions. In the present study, our goal was to examine clinicians' attitudes and behavior with respect to patient satisfaction in adult congenital heart disease outpatient clinics. A 34-question survey was developed to assess adult congenital heart disease clinicians' awareness, attitudes, and behavior relative to patient satisfaction and administered in-person or online to clinicians from the largely U.S.-based Adult Congenital Heart Association's database of adult congenital heart disease health care providers. Overall, 267 questionnaires were filled out: 108 were collected in person (79% response rate) and 159 online (17.5% response rate). Responses were received from physicians (161); nurses (73); physician assistants (20); and others (13). Although 85% of clinicians believed it was important to inquire about patient satisfaction, only 28% reported routinely inquiring about this dimension of care. Only 34% claimed they had adequate training to cope with varying levels of patient satisfaction, 44% stated that their department utilized patient satisfaction surveys, and 37% received feedback from the hospital management in the preceding 12 months. In multivariate analyses, clinicians that received feedback from the hospital management and had adequate training were more likely to inquire about patient satisfaction. Although patient satisfaction is perceived as an important dimension of quality care by adult congenital heart disease clinicians, most of them reported insufficient institutional support to achieve this. Our findings suggest that clinicians would benefit from health care organizations engaging them in the delivery of this dimension of health care quality. © 2014 Wiley Periodicals, Inc.

  17. Congenital bipartite atlas with hypodactyly in a dog: clinical, radiographic and CT findings.

    Science.gov (United States)

    Wrzosek, M; Płonek, M; Zeira, O; Bieżyński, J; Kinda, W; Guziński, M

    2014-07-01

    A three-year-old Border collie was diagnosed with a bipartite atlas and bilateral forelimb hypodactyly. The dog showed signs of acute, non-progressive neck pain, general stiffness and right thoracic limb non-weight-bearing lameness. Computed tomography imaging revealed a bipartite atlas with abaxial vertical bone proliferation, which was the cause of the clinical signs. In addition, bilateral hypodactyly of the second and fifth digits was incidentally found. This report suggests that hypodactyly may be associated with atlas malformations. © 2014 British Small Animal Veterinary Association.

  18. [Cytomegalovirus: congenital infection and clinical presentation in infants with respiratory distress syndrome].

    Science.gov (United States)

    Martínez-Contreras, Angélica; Lira, Rosalía; Soria-Rodríguez, Carmen; Hori-Oshima, Sawako; Maldonado-Rodríguez, Angélica; Rojas-Montes, Othón; Ayala-Figueroa, Rafael; Estrada-Guzmán, Julia; Álvarez-Muñoz, Ma Teresa

    2015-01-01

    Respiratory distress syndrome (RDS) is a multifactorial and common disease that varies from 15 to 50 % in the newborn, causing 50 % of mortality. The RDS may be associated with bacterial and viral infections, and one of the most common viral agents is the cytomegalovirus (CMV). In the neonatal period the virus incidence goes from 0.4 to 2.5 % with a seroprevalence of 50 to 75 %; the incidence of infection in newborn with RDS is unknown. The objective was to determine the frequency of CMV infection in neonates with RDS and identify the risk factors associated with infection. The CMV-DNA was identified in plasma by quantitative PCR; maternal and neonatal variables that defined the clinical findings were analyzed by logistic regression.The CMV-DNA was identified in plasma by quantitative PCR; maternal and neonatal variables that defined the clinical findings were analyzed by logistic regression. The frequency of CMV infection in 197 infants with RDS was 8.6 % (95 % CI, 4.7-12.5). The significant variables in newborn were: neutropenia (p = 0.012), thrombocytopenia (p = 0.021), mottled skin (p = 0.03), and the maternal significant variable was cervicovaginitis (p = 0.05). We reported for the first time the highest frecuency of CMV infection in newborns with RDS and the association of various risk factors with CMV infection.

  19. A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations

    Directory of Open Access Journals (Sweden)

    Carlos Garrido-Allepuz

    2011-05-01

    Full Text Available Sirenomelia, also known as sirenomelia sequence, is a severe malformation of the lower body characterized by fusion of the legs and a variable combination of visceral abnormalities. The causes of this malformation remain unknown, although the discovery that it can have a genetic basis in mice represents an important step towards the understanding of its pathogenesis. Sirenomelia occurs in mice lacking Cyp26a1, an enzyme that degrades retinoic acid (RA, and in mice that develop with reduced bone morphogenetic protein (Bmp signaling in the caudal embryonic region. The phenotypes of these mutant mice suggest that sirenomelia in humans is associated with an excess of RA signaling and a deficit in Bmp signaling in the caudal body. Clinical studies of sirenomelia have given rise to two main pathogenic hypotheses. The first hypothesis, based on the aberrant abdominal and umbilical vascular pattern of affected individuals, postulates a primary vascular defect that leaves the caudal part of the embryo hypoperfused. The second hypothesis, based on the overall malformation of the caudal body, postulates a primary defect in the generation of the mesoderm. This review gathers experimental and clinical information on sirenomelia together with the necessary background to understand how deviations from normal development of the caudal part of the embryo might lead to this multisystemic malformation.

  20. A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations.

    Science.gov (United States)

    Garrido-Allepuz, Carlos; Haro, Endika; González-Lamuño, Domingo; Martínez-Frías, María Luisa; Bertocchini, Federica; Ros, Maria A

    2011-05-01

    Sirenomelia, also known as sirenomelia sequence, is a severe malformation of the lower body characterized by fusion of the legs and a variable combination of visceral abnormalities. The causes of this malformation remain unknown, although the discovery that it can have a genetic basis in mice represents an important step towards the understanding of its pathogenesis. Sirenomelia occurs in mice lacking Cyp26a1, an enzyme that degrades retinoic acid (RA), and in mice that develop with reduced bone morphogenetic protein (Bmp) signaling in the caudal embryonic region. The phenotypes of these mutant mice suggest that sirenomelia in humans is associated with an excess of RA signaling and a deficit in Bmp signaling in the caudal body. Clinical studies of sirenomelia have given rise to two main pathogenic hypotheses. The first hypothesis, based on the aberrant abdominal and umbilical vascular pattern of affected individuals, postulates a primary vascular defect that leaves the caudal part of the embryo hypoperfused. The second hypothesis, based on the overall malformation of the caudal body, postulates a primary defect in the generation of the mesoderm. This review gathers experimental and clinical information on sirenomelia together with the necessary background to understand how deviations from normal development of the caudal part of the embryo might lead to this multisystemic malformation.

  1. Unsupported valvuloplasty in children with congenital mitral valve anomalies. Late clinical results

    Directory of Open Access Journals (Sweden)

    Lorier Gabriel

    2001-01-01

    Full Text Available OBJECTIVE: To analyze late clinical evolution after surgical treatment of children, with reparative and reconstructive techniques without annular support. METHODS: We evaluated 21 patients operated upon between 1975 and 1998. Age 4.67±3.44 years; 47.6% girls; mitral insufficiency 57.1% (12 cases, stenosis 28.6% (6 cases, and double lesion 14.3% (3 cases. The perfusion 43.10±9.50min, and ischemia time were 29.40±10.50min. The average clinical follow-up in mitral insufficiency was 41.52±53.61 months. In the stenosis group (4 patients was 46.39±32.02 months, and in the double lesion group (3 patients, 39.41±37.5 months. The echocardiographic follow-up was in mitral insufficiency 37.17±39.51 months, stenosis 42.61±30.59 months, and in the double lesion 39.41±37.51 months. RESULTS: Operative mortality was 9.5% (2 cases. No late deaths occurred. In the group with mitral insufficiency, 10 (83.3% patients were asymptomatic (p=0.04. The majorit y with mild reflux (p=0.002. In the follow-up of the stenosis group, all were in functional class I (NYHA; and the mean transvalve gradient varied between 8 and 12mmHg, average of 10.7mmHg. In the double lesion group, 1 patient was reoperated at 43 months. No endocarditis or thromboembolism were reported. CONCLUSION: Mitral stenosis repair has worse late results, related to the valve abnormalities and associated lesions. The correction of mitral insufficiency without annular support showed good long-term results.

  2. Anoftalmia clínica bilateral associada à hidrocefalia congênita em cão Bilateral clinical anophthalmia associated with congenital hydrocephalus in the dog

    Directory of Open Access Journals (Sweden)

    Mariana Isa Poci Palumbo

    2011-07-01

    Full Text Available A ausência completa do bulbo ocular é muito rara em cães e gatos, enquanto a hidrocefalia é comumente observada como distúrbio congênito em cães de raças miniatura ou braquicefálicas, com menos de um ano de idade. O presente trabalho relata a ocorrência de anoftalmia clínica bilateral associada à hidrocefalia congênita em um cão da raça poodle, sendo este o primeiro relato de caso da associação dessas alterações no Brasil.The complete absence of the eyeball is rare in dogs and cats, and hydrocephalus is commonly seen as a congenital disorder in toy or brachycephalic dogs before one year old. This paper describes for the first time in Brazil the occurrence of bilateral clinical anophthalmia associated to congenital hydrocephalus in a dog.

  3. Identification of Mycobacterium tuberculosis in Clinical Specimens of Patients Suspected of Having Extrapulmonary Tuberculosis by Application of Nested PCR on Five Different Genes.

    Science.gov (United States)

    Khosravi, Azar D; Alami, Ameneh; Meghdadi, Hossein; Hosseini, Atta A

    2017-01-01

    Definitive and rapid diagnosis of extrapulmonary tuberculosis (EPTB) is challenging since conventional techniques have limitations due to the paucibacillary nature of the disease. To increase the sensitivity of detection of Mycobacterium tuberculosis (MTB) in EPTB specimens, we performed a nested PCR assay targeting several genes of MTB on EPTB specimens. A total of 100 clinical specimens from suspected cases of EPTB were processed. Standard staining for acid fast bacilli (AFB) was performed as the preliminary screening test. Extracted DNAs from specimens were subjected to Nested PCR technique for the detection of five different MTB target genes of IS6110, IS1081, hsp65kd, mbp64 , and mtp40 . On performing AFB staining, only 13% of specimens were positive, of which ascites fluid (33.3%), followed by pleural effusion (30.8%) showed the greatest AFB positivity rate. We demonstrated slight improvement in yields in lymph node which comprised the majority of specimens in this study, by employing PCR targeted to IS6110 - and hsp65-genes in comparison to AFB staining. However, the yields in ascites fluid and pleural effusion were not substantially improved by PCR, but those from bone and wound were, as in nested PCR employing either gene, the same positivity rate were obtained for ascites fluid (33.3%), while for pleural effusion specimens only IS1081 based PCR showed identical positivity rate with AFB stain (30.8%). The results for bone and wound specimens, however, demonstrated an improved yield mainly by employing IS1081 gene. Here, we report higher detection rate of EPTB in clinical specimens using five different targeted MTB genes. This nested PCR approach facilitates the comparison and the selection of the most frequently detected genes. Of course this study demonstrated the priority of IS1081 followed by mtp40 and IS6110 , among the five tested genes and indicates the effectiveness of any of the three genes in the design of an efficient nested-PCR test that

  4. Clinical and X-ray investigations on congenital radio-ulnar synostosis

    International Nuclear Information System (INIS)

    Heisel, A.

    1982-01-01

    Out of 13 patients with cogenital radio-ulnar synostosis, 10 could be subjected to clinical and X-ray examination and chromosome analysis. In all the family histories the radio-ulnar synostosis was an isolated event. In no case was definite heredity of the same malformation confirmed. In most cases the radio-ulnar synostosis was an isolated malformation. 7 patients were of female, 6 of male sex. In 5 cases the synostosis was bi-lateral, in 8 cases it was unilateral without preference of either side of the body. In 2 out of 10 patients subjected to chromosome analysis gonosomal aneuploidy was found. More often than hitherto supposed, radio-ulnar synostosis seems to be associated with lower forms of polysomia of the x-chromosomes. 15 out of 18 synostoses belonged to type II, 3 to type I. The different types represent merely differring degrees of manifestation of the same deformity occurring bilaterally in one person. All patients with radio-ulnar synostosis exhibited a high degree of functional tolerance to the malformation. The development in child age and the educational and professional record were hardly impaired. (orig./MG) [de

  5. 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

  6. Effects of eHealth physical activity encouragement in adolescents with complex congenital heart disease: The PReVaiL randomized clinical trial.

    Science.gov (United States)

    Klausen, Susanne Hwiid; Andersen, Lars L; Søndergaard, Lars; Jakobsen, Janus Christian; Zoffmann, Vibeke; Dideriksen, Kasper; Kruse, Anne; Mikkelsen, Ulla Ramer; Wetterslev, Jørn

    2016-10-15

    To assess benefit and harms of adding an eHealth intervention to health education and individual counseling in adolescents with congenital heart disease. Randomized clinical trial. Denmark. A total of 158 adolescents aged 13-16years with no physical activity restrictions after repaired complex congenital heart disease. PReVaiL consisted of individually tailored eHealth encouragement physical activity for 52weeks. All patients received 45min of group-based health education and 15min of individual counseling involving patients' parents. The primary outcome was maximal oxygen uptake (VO2 peak) at 52weeks after randomization. The secondary outcome was physical activity. Exploratory outcomes were generic and disease-specific questionnaires. In the intervention group, 58 patients (72%) completed the final test, but of those, only 46 (57%) fulfilled the compliance criteria of using the eHealth application for at least 2 consecutive weeks. In the control group, 61 patients (79%) completed both exercise tests. Adjusted for baseline values, the difference between the intervention group and the control group in mean VO2 peak at 1year was -0.65ml·kg(-1)·min(-1) (95% CI -2.66 to 1.36). Between-group differences at 1year in physical activity, generic health-related quality of life, and disease-specific quality of life were not statistically significant. Adding a tailored eHealth intervention to health education and individual counseling did not affect outcomes among adolescents with congenital heart disease. Our results do not support the use of this eHealth intervention in adolescents with complex congenital heart disease. Clinical trials.gov identifier: NCT01189981. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  7. Maximising the clinical use of exercise gaseous exchange testing in children with repaired cyanotic congenital heart defects: the development of an appropriate test strategy.

    Science.gov (United States)

    McManus, A; Leung, M

    2000-04-01

    Implicit in deciding upon an exercise test strategy to elucidate cardiopulmonary function in children with congenital heart disease are appropriate application of gas exchange techniques and the significance of the data collected to the specific congenital heart disorder. Post-operative cardiopulmonary responses to exercise in cyanotic disorders are complex and, despite a large body of extant literature in paediatric patients, there has been much difficulty in achieving quality and consistency of data. Maximal oxygen uptake is widely recognised as the best single indicator of cardiopulmonary function and has therefore been the focus of most clinical exercise tests in children. Many children with various heart anomalies are able to exercise to maximum without adverse symptoms, and it is essential that test termination is based on the same criteria for these children. Choosing appropriate, valid indicators of maximum in children with congenital heart disease is beset by difficulties. Such maximal intensity exercise testing procedures have been challenged on the grounds that they do not give a good indication of cardiopulmonary function that is relevant to real life situations. Furthermore, they are prone to much interindividual variability and error in the definition of maximal exertion. Alternative strategies have been proposed which focus upon dynamic submaximal and kinetic cardiopulmonary responses, which are thought to be less dependent on maximal voluntary effort and more suited to the daily activity patterns of children. These methods are also not without problems. Variability in anaerobic threshold measurements and controversy regarding its physiological meaning have been debated. It is recommended that an appropriate cardiopulmonary exercise gas exchange test strategy, which provides clinically useful information for children with cyanotic congenital heart disease, should include both maximal and submaximal data. The inclusion of oxygen uptake kinetics and

  8. Women with congenital factor VII deficiency: clinical phenotype and treatment options from two international studies.

    Science.gov (United States)

    Napolitano, M; Di Minno, M N D; Batorova, A; Dolce, A; Giansily-Blaizot, M; Ingerslev, J; Schved, J-F; Auerswald, G; Kenet, G; Karimi, M; Shamsi, T; Ruiz de Sáez, A; Dolatkhah, R; Chuansumrit, A; Bertrand, M A; Mariani, G

    2016-09-01

    A paucity of data exists on the incidence, diagnosis and treatment of bleeding in women with inherited factor VII (FVII) deficiency. Here we report results of a comprehensive analysis from two international registries of patients with inherited FVII deficiency, depicting the clinical picture of this disorder in women and describing any gender-related differences. A comprehensive analysis of two fully compatible, international registries of patients with inherited FVII deficiency (International Registry of Factor VII deficiency, IRF7; Seven Treatment Evaluation Registry, STER) was performed. In our cohort (N = 449; 215 male, 234 female), the higher prevalence of mucocutaneous bleeds in females strongly predicted ensuing gynaecological bleeding (hazard ratio = 12.8, 95% CI 1.68-97.6, P = 0.014). Menorrhagia was the most prevalent type of bleeding (46.4% of patients), and was the presentation symptom in 12% of cases. Replacement therapies administered were also analysed. For surgical procedures (n = 50), a receiver operator characteristic analysis showed that the minimal first dose of rFVIIa to avoid postsurgical bleeding during the first 24 hours was 22 μg kg(-1) , and no less than two administrations. Prophylaxis was reported in 25 women with excellent or effective outcomes when performed with a total weekly rFVIIa dose of 90 μg kg(-1) (divided as three doses). Women with FVII deficiency have a bleeding disorder mainly characterized by mucocutaneous bleeds, which predicts an increased risk of ensuing gynaecological bleeding. Systematic replacement therapy or long-term prophylaxis with rFVIIa may reduce the impact of menorrhagia on the reproductive system, iron loss and may avoid unnecessary hysterectomies. © 2016 John Wiley & Sons Ltd.

  9. Congenital rubella

    Science.gov (United States)

    ... that usually closes shortly after birth remains open ( patent ductus arteriosus ) Narrowing of the large artery that ... prior to pregnancy can prevent congenital rubella. Pregnant women who have not had the vaccine should avoid ...

  10. The single-tooth implant treatment of congenitally missing maxillary lateral incisors using angled abutments: A clinical report

    Directory of Open Access Journals (Sweden)

    Suleyman Hakan Tuna

    2009-01-01

    Full Text Available The maxillary lateral incisor is the second most common congenitally absent tooth. There are several treatment options for replacing the missing maxillary lateral incisor, including canine substitution, tooth-supported restoration, or single-tooth implant. Dental implants are an appropriate treatment option for replacing missing maxillary lateral incisor teeth in adolescents when their dental and skeletal development is complete. This case report presents the treatment of a patient with congenitally missing maxillary lateral incisors using dental implants with angled abutments.

  11. Congenital cystic adenomatoid malformation

    International Nuclear Information System (INIS)

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

    2003-01-01

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

  12. Commentary on “Music Does Not Alter Anxiety in Patients with Suspected Lung Cancer Undergoing Bronchoscopy: A Randomised Controlled Trial” – European Clinical Respiratory Journal

    DEFF Research Database (Denmark)

    Jeppesen, Elisabeth; Pedersen, Carsten Michel

    2016-01-01

    Introduction Not only may the prognosis of lung cancer provoke fear in patients with suspected lung cancer undergoing bronchoscopy, but also the thought of undergoing bronchoscopy may provoke fear [1]. This can be fear of pain, of shortness of breath and also fear of death in connection with the ...

  13. Congenital malaria in China.

    Directory of Open Access Journals (Sweden)

    Zhi-Yong Tao

    2014-03-01

    Full Text Available 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

  14. Congenital heart defect corrective surgeries

    Science.gov (United States)

    ... make it bigger with a patch made of Gore-tex, a man-made (synthetic) material. Another way ... 434. Bhatt AB, Foster E, Kuehl K, et al; American Heart Association Council on Clinical Cardiology. Congenital ...

  15. Clinical and cognitive trajectories in cognitively healthy elderly individuals with suspected non-Alzheimer's disease pathophysiology (SNAP) or Alzheimer's disease pathology: a longitudinal study.

    Science.gov (United States)

    Burnham, Samantha C; Bourgeat, Pierrick; Doré, Vincent; Savage, Greg; Brown, Belinda; Laws, Simon; Maruff, Paul; Salvado, Olivier; Ames, David; Martins, Ralph N; Masters, Colin L; Rowe, Christopher C; Villemagne, Victor L

    2016-09-01

    Brain amyloid β (Aβ) deposition and neurodegeneration have been documented in about 50-60% of cognitively healthy elderly individuals (aged 60 years or older). The long-term cognitive consequences of the presence of Alzheimer's disease pathology and neurodegeneration, and whether they have an independent or synergistic effect on cognition, are unclear. We aimed to characterise the long-term clinical and cognitive trajectories of healthy elderly individuals using a two-marker (Alzheimer's disease pathology and neurodegeneration) imaging construct. Between Nov 3, 2006, and Nov 25, 2014, 573 cognitively healthy individuals in Melbourne and Perth, Australia, (mean age 73·1 years [SD 6·2]; 58% women) were enrolled in the Australian Imaging, Biomarker and Lifestyle (AIBL) study. Alzheimer's disease pathology (A) was determined by measuring Aβ deposition by PET, and neurodegeneration (N) was established by measuring hippocampal volume using MRI. Individuals were categorised as A(-)N(-), A(+)N(-), A(+)N(+), or suspected non-Alzheimer's disease pathophysiology (A(-)N(+), SNAP). Clinical progression, hippocampal volume, standard neuropsychological tests, and domain-specific and global cognitive composite scores were assessed over 6 years of follow-up. Linear mixed effect models and a Cox proportional hazards model of survival were used to evaluate, compare, and contrast the clinical, cognitive, and volumetric trajectories of patients in the four AN categories. 50 (9%) healthy individuals were classified as A(+)N(+), 87 (15%) as A(+)N(-), 310 (54%) as A(-)N(-), and 126 (22%) as SNAP. APOE ε4 was more frequent in participants in the A(+)N(+) (27; 54%) and A(+)N(-) (42; 48%) groups than in the A(-)N(-) (66; 21%) and SNAP groups (23; 18%). The A(+)N(-) and A(+)N(+) groups had significantly faster cognitive decline than the A(-)N(-) group (0·08 SD per year for AIBL-Preclinical AD Cognitive Composite [PACC]; p<0·0001; and 0·25; p<0·0001; respectively). The A (+)N

  16. Congenital cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Katarina Rednak-Paradiž

    2006-11-01

    Full Text Available Background: CMV is the most common agent that causes congenital virus infection. Only 10 % of infected children have symptomatic infection immediately after birth. Signs of central nervous system damage, neurosensory deafness and delayed psychomotor development may manifest as a result of asimptomatic congenital infection later in childhood. In the article we present basic properties of CMV; we describe clinical picture of the congenital infection and possibilities of diagnose and its treatment. We present five children with symptomatic congenital CMV infection that were hospitalized for the period 1992–2002 at the Neonatal department in the University Children’s Hospital in Ljubljana.Conclusions: Identification of infected neonates, especially those with asimptomatic congenital CMV infection, is difficult. Latest incidence of infection in Slovenia is unknown. With new investigations the efficiency of antiviral therapy was discovered but exact indications for therapy are not yet known. CMV vaccine, once available, may ultimately be the best control strategy for this important public health problem. Proper educating women in childbearing age about the risks of CMV and how to avoid disease transmission during pregnancy (hand washing, avoiding mouth-to-mouth contact with preschool children, usage of gloves especially when handling dipers or respiratory secretions are the only control strategies available.

  17. Limb defects associated with major congenital anomalies : Clinical and epidemiological study from the international clearinghouse for birth defects monitoring systems

    NARCIS (Netherlands)

    Rosano, A; Botto, LD; Olney, RS; Khoury, MJ; Ritvanen, A; Goujard, J; Stoll, C; Cocchi, G; Merlob, P; Mutchinick, O; Cornel, MC; Castilla, EE; Martinez-Frias, ML; Zampino, G; Erickson, JD; Mastroiacovo, P

    2000-01-01

    Although limb defects associated with other congenital anomalies are rarely studied, they may provide insights into limb development that may be useful for etiologic studies and public health monitoring, me pooled data from II birth defect registries that are part of the International Clearinghouse

  18. Baseline correction of phase-contrast images in congenital cardiovascular magnetic resonance

    Directory of Open Access Journals (Sweden)

    Lai Wyman W

    2010-03-01

    Full Text Available Abstract Background One potential source of error in phase contrast (PC congenital CMR flow measurements is caused by phase offsets due to local non-compensated eddy currents. Phantom correction of these phase offset errors has been shown to result in more accurate measurements of blood flow in adults with structurally normal hearts. We report the effect of phantom correction on PC flow measurements at a clinical congenital CMR program. Results Flow was measured in the ascending aorta, main pulmonary artery, and right and left pulmonary arteries as clinically indicated, and additional values such as Qp/Qs were derived from these measurements. Phantom correction in our study population of 149 patients resulted in clinically significant changes in 13% to 48% of these phase-contrast measurements in patients with known or suspected heart disease. Overall, 640 measurements or calculated values were analyzed, and clinically significant changes were found in 31%. Larger vessels were associated with greater phase offset errors, with 22% of the changes in PC flow measurements attributed to the size of the vessel measured. In patients with structurally normal hearts, the pulmonary-to-systemic flow ratio after phantom correction was closer to 1.0 than before phantom correction. There was no significant difference in the effect of phantom correction for patients with tetralogy of Fallot as compared to the group as a whole. Conclusions Phantom correction often resulted in clinically significant changes in PC blood flow measurements in patients with known or suspected congenital heart disease. In laboratories performing clinical CMR with suspected phase offset errors of significance, the routine use of phantom correction for PC flow measurements should be considered.

  19. Plasmodium vivax congenital malaria in an area of very low endemicity in Guatemala: implications for clinical and epidemiological surveillance in a malaria elimination context

    Directory of Open Access Journals (Sweden)

    Castellanos María Eugenia

    2012-12-01

    Full Text Available Abstract This is a report of the first Plasmodium vivax congenital malaria case in Guatemala and the first case in Latin America with genotypical, histological and clinical characterization. The findings show that maternal P. vivax infection still occurs in areas that are in the pathway towards malaria elimination, and can be associated with detrimental health effects for the neonate. It also highlights the need in very low transmission areas of not only maintaining, but increasing awareness of the problem and developing surveillance strategies, based on population risk, to detect the infection especially in this vulnerable group of the population.

  20. The Shetland Islands scrapie monitoring and control programme: analysis of the clinical data collected from 772 scrapie suspects 1985-1997.

    Science.gov (United States)

    Cockcroft, P D; Clark, A M

    2006-02-01

    There were 574 scrapie positive suspects (histopathological scrapie lesions present) and 198 scrapie negative suspects (histopathological scrapie lesions absent). The greatest number of scrapie cases were recorded in sheep of 2, 3 and 4 years of age which represented 17%, 36% and 23% of the scrapie positive suspects, respectively. The sign sensitivities and specificities for the ten recorded signs were, respectively: pruritus (62%, 42%), ataxia (23%, 74%), hyperaesthesia (32%, 74%), wool loss (25%, 73%), fleece discolouration (29%, 85%), bruxism (23%, 69%), nibbling reflex (17%, 58%), head rubbing (47%, 78%), poll rubbing (25%, 83%). These single signs had poor discriminatory values with likelihood ratios close to one (range 0.89-1.21); combinations of the four signs, pruritus, wool loss, ataxia, hyperaesthesia and emaciation were more discriminatory (range 0.30-4.3). This study covered a time period when bovine spongiform encephalopathy (BSE) might have been introduced into the sheep population on the Shetland Islands via contaminated feed. No temporal changes could be detected in the age structure of the affected animals.

  1. Imaging characteristics of two subtypes of congenital hemangiomas: rapidly involuting congenital hemangiomas and non-involuting congenital hemangiomas

    International Nuclear Information System (INIS)

    Gorincour, Guillaume; Rypens, Francoise; Garel, Laurent; Dubois, Josee; Kokta, Victor; Powell, Julie

    2005-01-01

    Common infantile hemangiomas (COMMON) occur in approximately 10% of infants by the age of 1 year, with a female predominance. Some hemangiomas can be fully developed at birth and are thus called congenital hemangiomas (CH). Within this population, two courses have been identified: rapidly involuting CH (RICH) and non-involuting CH (NICH). Little has been reported on the clinical prognosis and imaging features of these entities. To describe the imaging characteristics of two subtypes of CH, i.e. RICH and NICH, and to compare them with COMMON. We retrospectively gathered data on 26 children presenting with CH, i.e. lesions fully developed at birth. These lesions were divided into two groups according to the clinical course: suspected RICH (n=8) and suspected NICH (n=18). We used US, CT or MRI and angiography to identify the gross anatomy and structure and the vascularization. Imaging findings were compared with the clinical course and pathology results, when available. The imaging findings in these patients were compared retrospectively with those in 26 patients with COMMON randomly chosen from the database of our multidisciplinary clinic. When compared with COMMON imaging characteristics, NICH and RICH had distinctive features on US such as being heterogeneous (72% of NICH and 62.5% of RICH vs 42.3% of COMMON), visible vessels (72% of NICH and 62.5% of RICH vs 15.4% of COMMON), calcifications (17% of NICH and 37.5% of RICH vs no case of COMMON). On CT and/or MRI, we compared imaging features such as well-defined limits (67% of NICH and 60% of RICH vs 100% of COMMON), and fat stranding (29.4% of NICH and RICH vs 7.7% of COMMON). Distinctive imaging characteristics are observed in cases of CH with US findings of visible vessels and calcifications statistically significant. (orig.)

  2. Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice

    OpenAIRE

    Oliveira, Priscila H. A.; Souza, Beatriz S.; Pacheco, Eimi N.; Menegazzo, Michele S.; Corrêa, Ivan S.; Zen, Paulo R. G.; Rosa, Rafael F. M.; Cesa, Claudia C.; Pellanda, Lucia C.; Vilela, Manuel A. P.

    2018-01-01

    Abstract Background: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. Objective: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional ...

  3. 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...... by specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities. However, they share clinical characteristics and can show overlapping molecular alterations. Nevertheless, IDs are usually studied separately despite...... EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing...

  4. Congenital dilatation of the large and segmental intrahepatic bile ducts (Caroli's disease in two Golden retriever littermates : clinical communication

    Directory of Open Access Journals (Sweden)

    R.D. Last

    2006-06-01

    Full Text Available Two, sibling, male Golden retriever puppies, 13 weeks of age, were presented with congenital biliary cysts of the liver involving both hepatic and segmental bile ducts, as well as bilateral polycystic kidney disease. Ultrasonography of the livers of both pups demonstrated segmental cystic lesions that were contiguous with the bile ducts. Histopathology revealed cystic ectatic bile duct hyperplasia and dysplasia with variable portal fibrosis in the liver, while in the kidneys there were radially arranged, cylindrically dilated cysts of the collecting ducts, which extended through the medulla and cortex. This pathology was compatible with that of congenital dilatation of the large and segmental bile ducts (Caroli's disease described in humans, dogs and rats. In humans Caroli's disease has an autosomal recessive inheritance pattern, while in rats activation of the MEK5/ERK cascade initiates the biliary dysgenesis of Caroli's disease in this species. However, the exact mode of inheritance and pathogenesis of Caroli's disease in dogs is as yet unknown. Previous reports on congenital hepatic cystic diseases of the dog have described Caroli's disease like lesions in various breeds, but these are believed to be the 1st reported cases in the Golden retriever breed.

  5. 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.

  6. D-Dimer and prothrombin fragment 1 + 2 in urine and plasma in patients with clinically suspected venous thromboembolism.

    Science.gov (United States)

    Wexels, Fredrik; Seljeflot, Ingebjørg; Pripp, Are H; Dahl, Ola E

    2016-06-01

    Increased levels of urine prothrombin fragment 1 + 2 was recently reported to be associated with imaging-verified venous thromboembolism. In this study we evaluated the relationship between plasma D-dimer and plasma and urine prothrombin fragment 1 + 2 in patients with suspected venous thromboembolism. Urine and blood samples were collected from patients with suspected pulmonary embolism or deep vein thrombosis. The samples were analysed with commercially available ELISA kits. The diagnosis of venous thromboembolism was verified with contrast-enhanced computer tomography of the pulmonary arteries or lower extremity deep vein compression ultrasound and venography as appropriate. Venous thromboembolism was diagnosed in 150 of 720 patients. Significantly higher levels of plasma D-dimer and prothrombin fragment 1 + 2 in plasma and urine were found in those with imaging-confirmed venous thromboembolism versus those without (P fragment 1 + 2 in plasma. Further development of ELISA analyses for urine testing of prothrombin fragment 1 + 2 may improve its diagnostic accuracy.

  7. Pulmonary artery closure in combination with patch technique for treating congenital heart disease combined with large patent ductus arteriosus: A clinical study of 9 cases.

    Science.gov (United States)

    Wen, Bing; Yang, Junya; Liu, Huiruo; Jiao, Zhouyang; Zhao, Wenzeng

    2016-01-01

    To document clinical experience of treating congenital heart disease combined with large patent ductus arteriosus with pulmonary artery closure in combination with patch technique. Thirty-six patients (8 males and 28 females) who suffered from congenital heart disease and underwent hybrid surgery in the First Affiliated Hospital of Zhengzhou University from October 2010 to February 2014 were selected for this study. They aged 14 to 39 years and weighed 32.20 to 61.50 kg. Diameter of arterial duct was between 10 mm and 13 mm; 28 cases were tube type, 4 cases were funnel type and four cases were window type. All patients had moderate or severe pulmonary arterial hypertension; besides, there were 28 cases of ventricular septal defect, 16 cases of atrial septal defect, eight cases of aortic insufficiency, four cases of mitral stenosis and insufficiency and four cases of infectious endocarditis. Cardz Pulmonary Bypass (CPB) was established after chest was opened along the middle line. With the help of Transesophageal echocardiography, large patent ductus arteriosus was blocked off through pulmonary artery. Pulmonary artery was cut apart after blocking of heart. Large patent ductus arteriosus on the side of pulmonary artery was strengthened with autologous pericardial patch. Of 36 patients, 32 patients had patent ductus arteriosus closure device and four patients had atrial septal defect closure device. Pulmonary arteries of 36 cases were all successfully closed. Systolic pressure declined after closure ((54.86±19.23) mmHg vs (96.05±23.07) mmHg, pclosure ((39.15±14.83) mmHg vs (72.88±15.76) mmHg, ppatent ductus arteriosus and congenital heart disease, which decreases surgical problems, shortens surgical time and lowers the incidence of complications.

  8. Severe Clinical Course in a Patient with Congenital Amegakaryocytic Thrombocytopenia Due to a Missense Mutation of the c-MPL Gene.

    Science.gov (United States)

    Ok Bozkaya, İkbal; Yaralı, Neşe; Işık, Pamir; Ünsal Saç, Rukiye; Tavil, Betül; Tunç, Bahattin

    2015-06-01

    Congenital amegakaryocytic thrombocytopenia (CAMT) generally begins at birth with severe thrombocytopenia and progresses to pancytopenia. It is caused by mutations in the thrombopoietin receptor gene, the myeloproliferative leukemia virus oncogene (c-MPL). The association between CAMT and c-MPL mutation type has been reported in the literature. Patients with CAMT have been categorized according to their clinical symptoms caused by different mutations. Missense mutations of c-MPL have been classified as type II and these patients have delayed onset of bone marrow failure compared to type I patients. Here we present a girl with severe clinical course of CAMT II having a missense mutation in exon 4 of the c-MPL gene who was admitted to our hospital with intracranial hemorrhage during the newborn period.

  9. Prevalence of non-cardiovascular findings on CT angiography in children with congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Malik, Archana [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); St. Christopher' s Hospital for Children, Department of Radiology, Philadelphia, PA (United States); Hellinger, Jeffrey C. [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); New York Cardiovascular Institute at Lenox Hill Radiology, New York, NY (United States); Servaes, Sabah; Keller, Marc S. [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Schwartz, Mathew C. [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Levine Children' s Hospital, Sanger Heart and Vascular Institute, Charlotte, NC (United States); Epelman, Monica [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Nemours Children' s Health System/Nemours Children' s Hospital, Department of Medical Imaging/Radiology, Orlando, FL (United States)

    2017-03-15

    CT angiography is gaining broader acceptance in the evaluation of children with known or suspected congenital heart disease. These studies include non-cardiovascular structures such as the mediastinum, lung parenchyma and upper abdominal organs. It is important to inspect all these structures for potential abnormalities that might be clinically important and, in some cases, may impact care plans. To determine the prevalence of non-cardiovascular findings in CT angiography of children with congenital heart disease. During 28 months, 300 consecutive children (170 males; mean age: 7.1 years, age range: 6 h-26 years), referred from a tertiary pediatric cardiology center, underwent clinically indicated CT angiography to evaluate known or suspected congenital heart disease. Slightly more than half (n = 169) of the patients were postoperative or post-intervention. Examinations were retrospectively reviewed, and non-cardiovascular findings were recorded and tabulated by organ system, congenital heart disease and operative procedure in conjunction with outcomes from medical charts. Non-cardiovascular findings were identified in 83% (n = 250 / 300) of the studies for a total of 857 findings. In 221 patients (n = 73.7% of 300) a total of 813 non-cardiovascular findings were clinically significant, while in 9.7% (n = 29 / 300) of patients, 5.1% (n = 44 / 857) of the findings were nonsignificant. In 38.3% (n = 115 / 300) of patients with significant non-cardiovascular pathology, the findings were unexpected and directly impacted patient care plans. Commonly involved organs with non-cardiovascular findings were the lungs with 280 non-cardiovascular findings in 176 / 300 (58.7%) of patients, the airway with 139 non-cardiovascular findings in 103 / 300 (34.3%) of patients and the liver with 108 non-cardiovascular findings in 72 / 300 (24.0%) of patients. Syndromic associations were noted in 22% (n = 66 / 300) of the patients. Non-cardiovascular findings are common in children with

  10. Prevalence of non-cardiovascular findings on CT angiography in children with congenital heart disease

    International Nuclear Information System (INIS)

    Malik, Archana; Hellinger, Jeffrey C.; Servaes, Sabah; Keller, Marc S.; Schwartz, Mathew C.; Epelman, Monica

    2017-01-01

    CT angiography is gaining broader acceptance in the evaluation of children with known or suspected congenital heart disease. These studies include non-cardiovascular structures such as the mediastinum, lung parenchyma and upper abdominal organs. It is important to inspect all these structures for potential abnormalities that might be clinically important and, in some cases, may impact care plans. To determine the prevalence of non-cardiovascular findings in CT angiography of children with congenital heart disease. During 28 months, 300 consecutive children (170 males; mean age: 7.1 years, age range: 6 h-26 years), referred from a tertiary pediatric cardiology center, underwent clinically indicated CT angiography to evaluate known or suspected congenital heart disease. Slightly more than half (n = 169) of the patients were postoperative or post-intervention. Examinations were retrospectively reviewed, and non-cardiovascular findings were recorded and tabulated by organ system, congenital heart disease and operative procedure in conjunction with outcomes from medical charts. Non-cardiovascular findings were identified in 83% (n = 250 / 300) of the studies for a total of 857 findings. In 221 patients (n = 73.7% of 300) a total of 813 non-cardiovascular findings were clinically significant, while in 9.7% (n = 29 / 300) of patients, 5.1% (n = 44 / 857) of the findings were nonsignificant. In 38.3% (n = 115 / 300) of patients with significant non-cardiovascular pathology, the findings were unexpected and directly impacted patient care plans. Commonly involved organs with non-cardiovascular findings were the lungs with 280 non-cardiovascular findings in 176 / 300 (58.7%) of patients, the airway with 139 non-cardiovascular findings in 103 / 300 (34.3%) of patients and the liver with 108 non-cardiovascular findings in 72 / 300 (24.0%) of patients. Syndromic associations were noted in 22% (n = 66 / 300) of the patients. Non-cardiovascular findings are common in children with

  11. Congenital Hydrocephalus.

    Science.gov (United States)

    Estey, Chelsie M

    2016-03-01

    There are several types of hydrocephalus, which are characterized based on the location of the cerebrospinal fluid (CSF) accumulation. Physical features of animals with congenital hydrocephalus may include a dome-shaped skull, persistent fontanelle, and bilateral ventrolateral strabismus. Medical therapy involves decreasing the production of CSF. The most common surgical treatment is placement of a ventriculoperitoneal shunt. Postoperative complications may include infection, blockage, drainage abnormalities, and mechanical failure. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Congenital diplopodia

    International Nuclear Information System (INIS)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam

    2003-01-01

    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.)

  13. Congenital toxoplasmosis.

    Science.gov (United States)

    Kieffer, François; Wallon, Martine

    2013-01-01

    Congenital toxoplasmosis results from the transplacental transmission of the parasite Toxoplasma gondii after a maternal infection acquired in pregnancy. Prevalence of congenital infection ranges from 0.1 to 0.3 per 1000 live births. The maternal-fetal transmission rate increases with gestational age at maternal seroconversion, from less than 15% at 13 weeks of gestation to over 70% at 36 weeks. Conversely, the later the maternal infection, the lower the risk of symptomatic congenital infection (infections acquired during the third trimester are most often asymptomatic at birth). Prenatal diagnosis is currently performed by PCR analysis in amniotic fluid. Antenatal management and treatment vary considerably among countries. In some European countries, maternal infections are detected through serological screening allowing a prompt treatment with spiramycin, which is expected to reduce the risk of vertical transmission. If PCR analysis in amniotic fluid is positive or if maternal infection was acquired in the third trimester of pregnancy, a combination with pyrimethamine and sulphonamide is given until delivery. Benefits of antenatal treatments remain controversial. Infected newborns are prescribed pyrimethamine and sulphonamide for 12 months. Despite antenatal and postnatal treatment, chorioretinitis can occur at any age (prevalence>20% at 10 years of age): long-term ophthalmological follow-up remains necessary. Copyright © 2013 Elsevier B.V. All rights reserved.

  14. Tissue-engineered vascular grafts for use in the treatment of congenital heart disease: from the bench to the clinic and back again.

    Science.gov (United States)

    Patterson, Joseph T; Gilliland, Thomas; Maxfield, Mark W; Church, Spencer; Naito, Yuji; Shinoka, Toshiharu; Breuer, Christopher K

    2012-05-01

    Since the first tissue-engineered vascular graft (TEVG) was implanted in a child over a decade ago, growth in the field of vascular tissue engineering has been driven by clinical demand for improved vascular prostheses with performance and durability similar to an autologous blood vessel. Great strides were made in pediatric congenital heart surgery using the classical tissue engineering paradigm, and cell seeding of scaffolds in vitro remained the cornerstone of neotissue formation. Our second-generation bone marrow cell-seeded TEVG diverged from tissue engineering dogma with a design that induces the recipient to regenerate vascular tissue in situ. New insights suggest that neovessel development is guided by cell signals derived from both seeded cells and host inflammatory cells that infiltrate the graft. The identification of these signals and the regulatory interactions that influence cell migration, phenotype and extracellular matrix deposition during TEVG remodeling are yielding a next-generation TEVG engineered to guide neotissue regeneration without the use of seeded cells. These developments represent steady progress towards our goal of an off-the-shelf tissue-engineered vascular conduit for pediatric congenital heart surgery.

  15. Clinical features of congenital cystic disease of the mediastinum. Diagnostic usefulness of computed tomography and magnetic resonance imaging

    International Nuclear Information System (INIS)

    Bando, Masashi; Ishii, Yoshiki; Sugiyama, Yukihiko; Furuse, Makoto; Murayama, Fumio; Sohara, Yasunori

    2000-01-01

    We describe 18 cases of congenital mediastinal cysts, including 4 bronchogenic cysts, 5 pericardial cysts, and 9 thymic cysts. Fifteen of the 18 patients (62.5%) were asymptomatic, and the cysts were found incidentally on a chest radiograph conducted as a part of a physical screening. In 2 of the 4 cases of bronchogenic cysts, the cystic lesions were located in the posterior mediastinum and in the cephalad recess of the azgos vein (CRAzV). In 3 of the 5 cases of pericardial cysts, the lesions were located in the right cardio-phrenic region. In the remaining 2 cases, the cysts were located in the CRAzV and in the posterior mediastinum. Seventeen patients who had histologically proven mediastinal cysts were investigated by magnetic resonance (MR) imaging. In all 3 cases of bronchogenic cysts, MR signals of the cysts were of higher intensity than those of muscle on T1-weighted images. Neither the pericardial cysts nor the thymic cysts showed high signal intensity on T1-weighted images. Macroscopically, the intracystic fluids in all of the bronchogenic cysts contained viscid mucus that probably caused high signal intensities on the T1-weighted images. MR imaging is not only useful in revealing the location of mediastinal cysts, but also in the differential diagnosis of congenital mediastinal cysts. (author)

  16. 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.

  17. [Congenital intestinal lymphangiectasia].

    Science.gov (United States)

    Popović, Dugan D j; Spuran, Milan; Alempijević, Tamara; Krstić, Miodrag; Djuranović, Srdjan; Kovacević, Nada; Damnjanović, Svetozar; Micev, Marjan

    2011-03-01

    Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortuous, 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. 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 supportive therapy. 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.

  18. Angiographic features of rapidly involuting congenital hemangioma (RICH)

    Energy Technology Data Exchange (ETDEWEB)

    Konez, Orhan; Burrows, Patricia E. [Department of Radiology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Mulliken, John B. [Division of Plastic Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Fishman, Steven J. [Department of Pediatric Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Kozakewich, Harry P.W. [Department of Pathology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States)

    2003-01-01

    Rapidly involuting congenital hemangioma (RICH) is a recently recognized entity in which the vascular tumor is fully developed at birth and undergoes rapid involution. Angiographic findings in two infants with congenital hemangioma are reported and compared with a more common postnatal infantile hemangioma and a congenital infantile fibrosarcoma. Congenital hemangiomas differed from infantile hemangiomas angiographically by inhomogeneous parenchymal staining, large and irregular feeding arteries in disorganized patterns, arterial aneurysms, direct arteriovenous shunts, and intravascular thrombi. Both infants had clinical evidence of a high-output cardiac failure and intralesional bleeding. This congenital high-flow vascular tumor is difficult to distinguish angiographically from arteriovenous malformation and congenital infantile fibrosarcoma. (orig.)

  19. Congenital rubella syndrome: a review of laboratory data from 2002 to 2011.

    Science.gov (United States)

    Saraswathy, T S; Rozainanee, M Z; Asshikin, R Nurul; Zainah, S

    2013-05-01

    Rubella infection in pregnant women during the first trimester of pregnancy can lead to fetal anomalies, commonly known as congenital rubella syndrome (CRS). The objective of our study was to analyze the serological test results among infants suspected of having CRS aged Malaysia were examined for rubella specific IgM and IgG antibodies using a Axsym, automated analyzer (Abbott Laboratories). Forty-eight samples were positive for rubella specific IgM antibodies and 494 samples were positive for rubella specific IgG antibodies. These were then age stratified and their clinical history reviewed for any CRS symptoms. Fifteen of 38 rubella IgM positive infants (39.5%) aged < 3 months, had a clinical appearance compatible with CRS. However, only 1 IgM positive infant aged 3 to 6 months and one infant aged 7 to 11 months had clinical appearance compatible with CRS. The most common abnormal findings in these cases were congenital heart defects and cataracts. Forty-eight point eight percent of IgM positive cases and 53.1% of IgG positive cases, had inadequate information in the chart to determine the presence of CRS. Clinical findings and timely laboratory diagnosis to determine the presence of CRS are important in infants born with congenital defects. Physicians should also be aware of the appropriate interpretation of these findings.

  20. Congenital hypothyroidism presenting with postpartum bradycardia

    International Nuclear Information System (INIS)

    Kara, S.; Tayman, C.; Tonbul, A.; Tatli, M.; Andiran, N.; Turkay, S.

    2013-01-01

    Congenital hypothyroidism is a clinical condition characterized by lack of thyroid hormone because of thyroid gland developmental and thyroid hormone biosynthesis disorders. The most common cause of permanent hypothyroidism is congenital factors. Prompt diagnosis is critical. However, overt signs of hypothyroidism are rarely present at birth, and 95% of affected babies are asymptomatic. Hypoxemia, apnea, acidosis, increased intracranial pressure, vagal stimulus and central nerve system abnormalities represent the most common causes of bradycardia in the neonate. Bradycardia associated with congenital hypothyroidism is very rare. In this paper, a case of severe congenital hypothyroidism, induced by maternal blocker antibodies, who presented with bradycardia, is reported. (author)

  1. A cost effectiveness study establishing the impact and accuracy of implementing the NICE guidelines lowering plasma NTproBNP threshold in patients with clinically suspected heart failure at our institution.

    Science.gov (United States)

    Webb, Jessica; Draper, Jane; Rua, Tiago; Yiu, Yee; Piper, Susan; Teall, Thomas; Fovargue, Lauren; Bolca, Elena; Jackson, Tom; Claridge, Simon; Sieniewicz, Ben; Porter, Bradley; McDiarmid, Adam; Rajani, Ronak; Kapetanakis, Stamatis; Rinaldi, Christopher A; Razavi, Reza; McDonagh, Theresa A; Carr-White, Gerald

    2018-04-15

    The 2014 National Institute of Clinical Excellence (NICE) guidelines on the management of acute heart failure recommended using a plasma NT-proBNP threshold of 300pg/ml to assist in ruling out the diagnosis of heart failure (HF), updating previous guidelines recommending using a threshold of 400pg/ml. NICE based their recommendations on 6 studies performed in other countries. This study sought to determine the diagnostic and economic implications of using these thresholds in a large unselected UK population. Patient and clinical demographics were recorded for all consecutive suspected HF patients over 12months, as well as clinical outcomes including time to HF hospitalisation and time to death (follow up 15.8months). Of 1995 unselected patients admitted with clinically suspected HF, 1683 (84%) had a NTproBNP over the current NICE recommended threshold, of which 35% received a final diagnosis of HF. Lowering the threshold from 400 to 300pg/ml would have involved screening an additional 61 patients and only would have identified one new patient with HF (sensitivity 0.985, NPV 0.976, area under the curve (AUC) at 300pg/ml 0.67; sensitivity 0.983, NPV 0.977, AUC 0.65 at 400pg/ml). The economic implications of lowering the threshold would have involved additional costs of £42,842.04 (£702.33 per patient screened, or £ 42,824.04 per new HF patient). Applying the recent updated NICE guidelines to an unselected real world population increases the AUC but would have a significant economic impact and only identified one new patient with heart failure. Copyright © 2017 Elsevier B.V. All rights reserved.

  2. Echocardiographic evaluation of simple versus complex congenital heart disease in a tertiary care Paediatrics Hospital

    Directory of Open Access Journals (Sweden)

    Uttam Kumar Sarkar

    2017-10-01

    Full Text Available Background & Objectives:Congenital heart diseases are treatable either by catheter based intervention or open heart surgery according to their quality. In our study we aim to analyze congenital heart disease echocardiographically into simple versus complex heart disease at a tertiary care centre with a public health planning and policy making perspective.Materials & Methods:This hospital based study was done on 1010 patients, both from in-patient and out-patient, who were clinically suspected to have heart disease from January 2015 to September 2016 at Dr.B.C.Roy P.G.I.P.S. Kolkata and echocardiographically categorized.Results:A VSD was the commonest acyanotic heart disease (17. 08%.Tetralogy of Fallot (TOF was commonest complex cyanotic heart disease (10.64%, VSD +ASD was the commonest combined lesion (8.12%. Simple heart lesions (63.1% were commoner than complex (36.9% congenital heart diseases.Conclusion:Health policy makers should give due care to manage Congenital Heart Disease either catheter based or surgically keeping in mind about 63.1% of the lesions are simple cardiac lesions and 36.9% lesions are complex cardiac lesion where complex surgery is required. 

  3. Congenital segmental dilatation of the colon

    African Journals Online (AJOL)

    Congenital segmental dilatation of the colon is a rare cause of intestinal obstruction in neonates. We report a case of congenital segmental dilatation of the colon and highlight the clinical, radiological, and histopathological features of this entity. Proper surgical treatment was initiated on the basis of preoperative radiological ...

  4. Presentation of suspected pediatric uveitis.

    Science.gov (United States)

    Saeed, Muhammad Usman; Raza, Syed Hamid; Goyal, Sudeshna; Cleary, Gavin; Newman, William David; Chandna, Arvind

    2014-01-01

    Presentation of suspected pediatric uveitis: Pediatric uveitis is usually managed in specialized ophthalmic centers in the UK. Meaningful data acquisition in these clinics may be helpful in clinical governance, and healthcare planning in a specialty that is gradually changing due to changes in treatment choices. Retrospective analysis of prospectively acquired data in the Liverpool pediatric uveitis database was performed. Analysis of our data, based on 147 patients, with a mean age of 10 years, indicated a female to male ratio of 2:1. 99% of patients were Caucasian. Our data indicates 86% of all patients attending the uveitis clinic were diagnosed with juvenile idiopathic arthritis, followed by intermediate uveitis 5% and idiopathic uveitis 4%. 46% of patients required treatment. Systemic treatment included methotrexate (34%), prednisolone (14%), etanercept (6%), ciclosporin (6%), mycophenolate (3%), and infliximab (1%). Severe visual loss (defined by counting fingers or below vision) was seen in 10 eyes despite appropriately treated chronic uveitis. Our data shows uveitis-related ocular morbidity in a predominantly pediatric Caucasian population. Patients with severe and chronic uveitis may experience significant uveitis-related complications and subsequent visual loss despite aggressive treatment.

  5. An extremely rare clinical entity: congenitally corrected transposition with situs ınversus and single coronary artery presented with complete atrioventricular block in a young man.

    Science.gov (United States)

    Cirakoglu, Omer Faruk; Bayraktar, Ali; Sayin, Muhammet Rasit

    2018-05-01

    Congenitally corrected transposition of the great arteries is a rare form of CHD. Situs inversus is a much less common variant of a congenitally corrected transposition of the great arteries. In rare cases, transposition events may be accompanied by various cardiac anomalies. However, situs inversus patients with congenitally corrected transposition, single coronary artery anomaly, and atrioventricular block together have not been reported previously. This combination of abnormalities is presented as a first in the literature.

  6. Clinical effects in resection of congenital choledochal cyst of children and jejunum Roux-Y anastomosis by laparoscope.

    Science.gov (United States)

    Yu, B-H; Lin, F

    2016-11-01

    We compared the effects and complications in resection of the congenital choledochal cyst (CCC) and hepatic duct jejunum Roux-Y anastomosis by laparoscopy and open surgery. We continuously selected 156 cases of pediatric patients with CCC, which were divided into 70 cases of the laparoscopic group and 86 cases of laparotomy group according to the treatment methods. Then the success rate of surgery, intraoperative and postoperative bleeding, intraoperative and postoperative complications was compared. It was found that after 65 cases (92.9%) completed in the laparoscopic group and all completed in laparotomy group there was less intra-operative blood loss of laparoscopic group than that of the open surgery group. However, the difference of postoperative hemorrhage in two groups was not statistically significant (p >0.05). The intra-operative complications in the two groups were not significantly different (p >0.05); in the laparoscopic group, the postoperative complication rate was significantly lower than open surgery group (p resection of CCC combined with jejunum Roux-Y anastomosis has good prospects.

  7. Adults with congenital limb deficiency in Norway: demographic and clinical features, pain and the use of health care and welfare services. A cross-sectional study.

    Science.gov (United States)

    Johansen, Heidi; Østlie, Kristin; Andersen, Liv Øinæs; Rand-Hendriksen, Svend

    2015-01-01

    To describe an adult population with congenital limb deficiency (CLD) recruited through the National Resource Centre for Rare Disorders (TRS) in Norway: (1) demographic factors, (2) clinical features, (3) pain and (4) use of health care and welfare services. Cross-sectional study. In 2012, a postal questionnaire was sent to 186 eligible persons with CLD, age 20 years and older. Ninety-seven respondents, median-age 39 years (range: 20-82); 71% were women. The population was divided into two subgroups: (1) unilateral upper-limb deficiency (UULD) n = 77, (2) multiple and/or lower-limb deficiency (MLD/LLD). About 40% worked full-time, 18% received disability pensions and 64% reported chronic pain, mostly bilateral pain. Grip-improving devices were used more often than prostheses; 23% were previous prosthesis users. Use of health care and welfare services are described. No significant differences were found between the subgroups regarding pain or employment status. Persons with CLD reported increased prevalence of chronic pain, mostly bilateral, and increased prevalence of early retirement. A greater focus on the benefits of the use of assistive devices, the consequences of overuse and vocational guidance may moderate pain and prevent early retirement. Further studies of more representative samples should be conducted to confirm our findings. Most adults with congenital limb deficiency (CLD) live ordinary lives and experience normal life events. However, several report chronic pain and retire before normal retirement age. In spite of free and accessible prosthetic services, a large fraction chooses not to use prosthesis, more use grip-improving devices for specific activities. These preferences should be acknowledged by rehabilitation specialists. Focus on individually adapted environments, more information about the consequences of overuse, and vocational guidance may moderate pain and prevent early retirement.

  8. Congenital amusia.

    Science.gov (United States)

    Williamson, Victoria J; Stewart, Lauren

    2013-01-01

    For most people, music, like language, is acquired effortlessly in early life. But a few percent of the population have lifelong difficulties in the perception and production of music. In this chapter we discuss psycho-acoustic and behavioral studies that have attempted to delineate the nature of the auditory perceptual deficits in this group and consider whether these difficulties extend outside the musical domain. Finally, we review structural imaging studies in this group which point to subtle anomalies in temporal and frontal areas. We suggest that amusia can be considered a disorder of neural development, which has relatively specific consequences at the behavioral level. Studies of congenital amusia provide a unique window on the neurocognitive architecture of music processing. Copyright © 2013 Elsevier B.V. All rights reserved.

  9. Notification of suspected and unexpected serious adverse reactions according to the Clinical Trials Directive - A descriptive analysis of the legislation and the requirements in a European context

    DEFF Research Database (Denmark)

    Larsen, Ellen Moseholm; Grarup, Jesper; Gey, Daniela Christine

    2010-01-01

    The European Clinical Trials Directive (CTD) came into force on May 1st 2004. The CTD provides the legal basis for monitoring the safety of clinical trials and covers the requirements for notification of SUSAR. Implementation of the CTD into national legislation in each Member State has resulted...... in various interpretations of CTD requirements. The objective of this paper is to investigate how the European Member States administer the safety reporting requirements of the CTD and to clarify the requirements for SUSAR notification in the different Member States. Data was collected through publicly...

  10. An outbreak investigation of congenital rubella syndrome in Solomon Islands, 2013

    Directory of Open Access Journals (Sweden)

    Kara N Durski

    2016-02-01

    Full Text Available Introduction: During May 2012, a rubella outbreak was declared in Solomon Islands. A suspected case of congenital rubella syndrome (CRS was reported from one hospital 11 months later in 2013. This report describes the subsequent CRS investigation, findings and measures implemented. Methods: Prospective CRS surveillance was conducted at the newborn nursery, paediatric and post-natal wards, and the paediatric cardiology and ophthalmology clinics of the study hospital from April to July 2013. Retrospective case finding by reviewing medical records was also undertaken to identify additional cases born between January and March 2013 for the same wards and clinics. Cases were identified using established World Health Organization case definitions for CRS. Results: A total of 13 CRS cases were identified, including two laboratory-confirmed, four clinically confirmed and seven suspected cases. Five CRS cases were retrospectively identified, including four suspected and one clinically confirmed case. There was no geospatial clustering of residences. The mothers of the cases were aged between 20 and 36 years. Three of the six mothers available for interview recalled an acute illness with rash during the first trimester of pregnancy. Discussion: Additional CRS cases not captured in this investigation are likely. Caring for CRS cases is a challenge in resource-poor settings. Rubella vaccination is safe and effective and can prevent the serious consequences of CRS. Well-planned and funded vaccination activities can prevent future CRS cases.

  11. Diagnostic value and clinical problems of MR imaging in congenital anomalies of the central nervous system, 1

    International Nuclear Information System (INIS)

    Oi, Shizuo; Asano, Noboru; Urui, Seishiro; Masumura, Michio; Shose, Yoshiteru; Matsumoto, Satoshi.

    1987-01-01

    Various forms of cerebral dysgenesis were studied by means of MR Imaging (MRI) in order to determine the diagnostic efficacy of MRI in comparison with conventional diagnostic procedures. All subjects have been diagnosed during the last 16 months at the National Kagawa Children's Hospital with conventional methods and then referred to MRI study at the Shinsuma Hospital, where a MRI system of a regular-conducting magnet operating at a field strength of 1.5 KG (Picker International Corp., U.S.A.) has been installed. Using the two-dimensional Fourier transform technique, three radiofrequency pulse sequences; inversion recovery: IR 2100/500, and spin-echo: SE 2100/40 or 2100/80, were routinely applied. Compared with X-ray CT, MR proved to be advantageous in the more precise detection of the pathoanatomical relation and in providing information about the myelinating process. The analysis of the myelinating process by MRI in such cerebral dysgeneses as lissencephaly, frontal-lobe dysgenesis, agenesis of the corpus callosum, and microcephalic hydrocephalus was very important for the detection of further functional cerebral developments. The pathoanatomical analysis by MRI, in particular with the midline sagittal view, is extremely advantageous in the diagnosis of Chiari malformation, holoprosencephaly, the Dandy-Walker syndrome, congenital dermal sinus, syringobulbia, and others. The disadvantages or weak points of MRI were also identified in this study. The CSF dynamics in both the major and minor fluid pathways as analyzed by metrizamide CT cisternography or ventriculography is much superior to the information revealed by MRI, although the SE technique can demonstrate some fluid distribution in the brain parenchyma and a different signal intensity in the fluid movements. The information about the bony structure in dysraphic states and calcifications in associated anomalies was also poor. (J.P.N.)

  12. Spontaneous subconjunctival abscess in congenital lamellar ichthyosis

    Directory of Open Access Journals (Sweden)

    Shivanand C Bubanale

    2018-01-01

    Full Text Available Congenital lamellar ichthyosis is an autosomal recessive, heterogeneous disorder presenting at birth with generalized skin involvement. The most common ophthalmic manifestation noted is bilateral ectropion of the lower eyelids. A 1-month-old female neonate, the second born of a nonconsanguineous marriage, presented with 4 days' history of redness, discharge, and swelling in the right eye. There was severe right upper eyelid ectropion, conjunctival injection, chemosis, a subconjunctival mass on the temporal bulbar conjunctiva spontaneously draining pus and corneal haze. The anterior chamber, iris, lens and fundus appeared normal. Congenital lamellar ichthyosis was suspected because of scaling and excessive dryness of the entire body. The occurrence of a spontaneous subconjunctival abscess is not known in lamellar ichthyosis. We thus report the management of a rare case of unilateral upper eyelid ectropion, subconjunctival abscess with orbital cellulitis in congenital lamellar ichthyosis.

  13. Inheritance of congenital cataracts and microphthalmia in the Miniature Schnauzer.

    Science.gov (United States)

    Gelatt, K N; Samuelson, D A; Bauer, J E; Das, N D; Wolf, E D; Barrie, K P; Andresen, T L

    1983-06-01

    Congenital cataracts and microphthalmia in the Miniature Schnauzer were inherited as an autosomal recessive trait. Eighteen matings of affected X affected Miniature Schnauzers resulted in 87 offspring with congenital cataracts and microphthalmia (49 males/38 females). Two matings of congenital cataractous and microphthalmic Miniature Schnauzers (2 females) X a normal Miniature Schnauzer (1 male) yielded 11 clinically normal Miniature Schnauzers (7 males/4 females). Eighteen matings of congenital cataractous and microphthalmic Miniature Schnauzers (6 males) X carrier Miniature Schnauzers (9 females) produced 81 offspring; 39 exhibited congenital cataracts and microphthalmia (20 males/19 females) and 42 had clinically normal eyes (17 males/25 females).

  14. 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.

  15. Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population

    DEFF Research Database (Denmark)

    Nissen, Peter H; Christensen, Signe E; Heickendorff, Lene

    2007-01-01

    CONTEXT: The autosomal dominantly inherited condition familial hypocalciuric hypercalcemia (FHH) is characterized by elevated plasma calcium levels, relative or absolute hypocalciuria, and normal to moderately elevated plasma PTH. The condition is difficult to distinguish clinically from primary...... hyperparathyroidism and is caused by inactivating mutations in the calcium sensing receptor (CASR) gene. OBJECTIVE: We sought to define the mutation spectrum of the CASR gene in a Danish FHH population and to establish genotype-phenotype relationships regarding the different mutations. DESIGN AND PARTICIPANTS...

  16. ESSENCE-Q – a first clinical validation study of a new screening questionnaire for young children with suspected neurodevelopmental problems in south Japan

    Directory of Open Access Journals (Sweden)

    Hatakenaka Y

    2016-07-01

    Full Text Available Yuhei Hatakenaka,1,2 Elisabeth Fernell,2 Masahiko Sakaguchi,3 Hitoshi Ninomiya,3 Ichiro Fukunaga,1 Christopher Gillberg2 1Kochi Gillberg Neuropsychiatry Centre, Kochi Prefectural Medical and Welfare Centre, Kochi, Japan; 2Gillberg Neuropsychiatry Centre, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; 3Integrated Centre for Advanced Medical Technologies, Kochi University Medical School, Kochi, Japan Background: Early identification of autism spectrum disorder, intellectual developmental disorder, attention-deficit/hyperactivity disorder, and other neurodevelopmental disorders/problems is crucial, yet diagnosis is often delayed for years under the often misguided “wait-and-see” paradigm. The early symptomatic syndromes eliciting neurodevelopmental clinical examinations-questionnaire (ESSENCE-Q is a brief (12-item screening questionnaire developed specifically for the purpose of speeding up the identification process of a wide variety of neurodevelopmental problems. The aims were to 1 estimate the reliability of the ESSENCE-Q, 2 evaluate the clinical cutoff levels suggested by the author of the ESSENCE-Q, and 3 propose optimal cutoff levels based on receiver operating characteristic analysis.Methods: The ESSENCE-Q was used for 1 year by a psychiatrist in Kochi, Japan, assessing children under the age of 6 years referred for developmental problems. The children were also clinically assessed with regard to whether or not they met criteria for a developmental disorder (diagnosis positive and diagnosis negative groups. We contrasted the results of the ESSENCE-Q and those of clinical diagnostic assessments in 130 cases.Results: Cronbach’s alpha was 0.82, sensitivity was 0.94 (95% confidence interval [CI]: [0.88, 0.98], and specificity 0.53 (95% CI: [0.28, 0.77], which are reasonable psychometrics for a first-step screening tool. Based on receiver operating characteristic analysis, we recommended an optimal cutoff level of yes

  17. Congenital Aortic Stenosis and Aneurysms

    NARCIS (Netherlands)

    D. van der Linde (Denise)

    2013-01-01

    textabstractDue to improvements in pediatric cardio-thoracic surgery, anesthesia and diagnostics over the past decades, the number of adult patients with congenital heart disease (CHD) is growing. This causes an increasing demand in clinical practice for insight in long term outcome in both

  18. Children with classic congenital adrenal hyperplasia have elevated serum leptin concentrations and insulin resistance: potential clinical implications.

    Science.gov (United States)

    Charmandari, Evangelia; Weise, Martina; Bornstein, Stefan R; Eisenhofer, Graeme; Keil, Margaret F; Chrousos, George P; Merke, Deborah P

    2002-05-01

    Leptin is secreted by the white adipose tissue and modulates energy homeostasis. Nutritional, neural, neuroendocrine, paracrine, and autocrine factors, including the sympathetic nervous system and the adrenal medulla, have been implicated in the regulation of leptin secretion. Classic congenital adrenal hyperplasia (CAH) is characterized by a defect in cortisol and aldosterone secretion, impaired development and function of the adrenal medulla, and adrenal hyperandrogenism. To examine leptin secretion in patients with classic CAH in relation to their adrenomedullary function and insulin and androgen secretion, we studied 18 children with classic CAH (12 boys and 6 girls; age range 2-12 yr) and 28 normal children (16 boys and 12 girls; age range 5-12 yr) matched for body mass index (BMI). Serum leptin concentrations were significantly higher in patients with CAH than in control subjects (8.1 +/- 2.0 vs. 2.5 +/- 0.6 ng/ml, P = 0.01), and this difference persisted when leptin values were corrected for BMI. When compared with their normal counterparts, children with CAH had significantly lower plasma epinephrine (7.1 +/- 1.3 vs. 50.0 +/- 4.2, P fasting serum insulin (10.6 +/- 1.4 vs. 3.2 +/- 0.2 microU/ml, P Insulin resistance determined by the homeostasis model assessment method was significantly greater in children with classic CAH than in normal children (2.2 +/- 0.3 vs. 0.7 +/- 0.04, P patients and controls. Gender predicted serum leptin concentrations in controls but not in patients with classic CAH. No association was found between the dose of hydrocortisone and serum leptin (r = -0.17, P = 0.5) or insulin (r = 0.24, P = 0.3) concentrations in children with CAH. Our findings indicate that children with classic CAH have elevated fasting serum leptin and insulin concentrations, and insulin resistance. These most likely reflect differences in long-term adrenomedullary hypofunction and glucocorticoid therapy. Elevated leptin and insulin concentrations in patients

  19. Simplified clinical prediction scores to target viral load testing in adults with suspected first line treatment failure in Phnom Penh, Cambodia.

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    Johan van Griensven

    Full Text Available BACKGROUND: For settings with limited laboratory capacity, 2013 World Health Organization (WHO guidelines recommend targeted HIV-1 viral load (VL testing to identify virological failure. We previously developed and validated a clinical prediction score (CPS for targeted VL testing, relying on clinical, adherence and laboratory data. While outperforming the WHO failure criteria, it required substantial calculation and review of all previous laboratory tests. In response, we developed four simplified, less error-prone and broadly applicable CPS versions that can be done 'on the spot'. METHODOLOGY/PRINCIPAL: Findings From May 2010 to June 2011, we validated the original CPS in a non-governmental hospital in Phnom Penh, Cambodia applying the CPS to adults on first-line treatment >1 year. Virological failure was defined as a single VL >1000 copies/ml. The four CPSs included CPS1 with 'current CD4 count' instead of %-decline-from-peak CD4; CPS2 with hemoglobin measurements removed; CPS3 having 'decrease in CD4 count below baseline value' removed; CPS4 was purely clinical. Score development relied on the Spiegelhalter/Knill-Jones method. Variables independently associated with virological failure with a likelihood ratio ≥ 1.5 or ≤ 0.67 were retained. CPS performance was evaluated based on the area-under-the-ROC-curve (AUROC and 95% confidence intervals (CI. The CPSs were validated in an independent dataset. A total of 1490 individuals (56.6% female, median age: 38 years (interquartile range (IQR 33-44; median baseline CD4 count: 94 cells/µL (IQR 28-205, median time on antiretroviral therapy 3.6 years (IQR 2.1-5.1, were included. Forty-five 45 (3.0% individuals had virological failure. CPS1 yielded an AUROC of 0.69 (95% CI: 0.62-0.75 in validation, CPS2 an AUROC of 0.68 (95% CI: 0.62-0.74, and CPS3, an AUROC of 0.67 (95% CI: 0.61-0.73. The purely clinical CPS4 performed poorly (AUROC-0.59; 95% CI: 0.53-0.65. CONCLUSIONS: Simplified CPSs retained

  20. Congenital anomalies of the male urethra

    International Nuclear Information System (INIS)

    Levin, Terry L.; Han, Bokyung; Little, Brent P.

    2007-01-01

    The spectrum of congenital anomalies of the male urethra is presented. The embryologic basis of each anomaly, when known, is discussed. Clinical and imaging features of each entity are presented. (orig.)

  1. [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.

  2. Malformações congênitas do pâncreas: um caso clínico Congenital pancreas malformations: a clinical case report

    Directory of Open Access Journals (Sweden)

    Ana Bento

    2013-02-01

    Full Text Available OBJETIVO: Este trabalho tem por objetivo fazer uma revisão da malformação congênita denominada de agenesia dorsal do pâncreas (ADP e de outras malformações congênitas pancreáticas, com base em um caso clínico raro e exemplar da problemática das malformações pancreáticas. Pretende-se rever a informação mais recente publicada na literatura nacional e internacional acerca das malformações congênitas pancreáticas e investigar a diversidade de formas de apresentação clínica da ADP e de outras malformações congênitas do pâncreas. Pretende-se saber em que situações há indicação terapêutica, qual a altura mais adequada de intervir, quais as modalidades disponíveis para o tratamento médico e ou cirúrgico das malformações congênitas pancreáticas. RESULTADOS: A ADP é uma malformação muito rara que surge durante a organogênese. Nas últimas décadas, foi produzido um volume importante de informação genética e embriológica que ajuda a compreender as causas das malformações pancreáticas. As malformações pancreáticas têm de ser estudadas e compreendidas no seu conjunto. CONCLUSÃO: A malformação pancreática é uma causa de pancreatite aguda e crônica no adulto, pouco estudada. A possibilidade da existência de malformações pancreáticas deve estar sempre presente em doentes com pancreatite aguda ou crônica sem causa evidente.OBJECTIVE: This study aimed to review the congenital malformation known as agenesis of the dorsal pancreas (ADP and other pancreatic birth defects, based on a rare and exemplary clinical case of pancreatic malformations. The intent was to review the latest information published in the national and international literature on pancreatic birth defects, and to investigate the diversity of clinical presentations of ADP and other congenital pancreas abnormalities. The purpose was to identify which situations have therapeutic indication, the most appropriate time to institute

  3. Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.

    Science.gov (United States)

    Narumi, Yoko; Nishina, Sachiko; Tokimitsu, Motoharu; Aoki, Yoko; Kosaki, Rika; Wakui, Keiko; Azuma, Noriyuki; Murata, Toshinori; Takada, Fumio; Fukushima, Yoshimitsu; Kosho, Tomoki

    2014-05-01

    Congenital cataracts are the most important cause of severe visual impairment in infants. Genetic factors contribute to the disease development and 29 genes are known to cause congenital cataracts. Identifying the genetic cause of congenital cataracts can be difficult because of genetic heterogeneity. V-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF) encodes a basic region/leucine zipper transcription factor that plays a key role as a regulator of embryonic lens fiber cell development. MAF mutations have been reported to cause juvenile-onset pulverulent cataract, microcornea, iris coloboma, and other anterior segment dysgenesis. We report on six patients in a family who have congenital cataracts were identified MAF mutation by whole exome sequencing (WES). The heterozygous MAF mutation Q303L detected in the present family occurs in a well conserved glutamine residue at the basic region of the DNA-binding domain. All affected members showed congenital cataracts. Three of the six members showed microcornea and one showed iris coloboma. Congenital cataracts with MAF mutation exhibited phenotypically variable cataracts within the family. Review of the patients with MAF mutations supports the notion that congenital cataracts caused by MAF mutations could be accompanied by microcornea and/or iris coloboma. WES is a useful tool for detecting disease-causing mutations in patients with genetically heterogeneous conditions. © 2014 Wiley Periodicals, Inc.

  4. Clinically suspected anaphylaxis induced by sugammadex in a patient with Weaver syndrome undergoing restrictive mammoplasty surgery: A case report with the literature review.

    Science.gov (United States)

    Bedirli, Nurdan; Işık, Berrin; Bashiri, Mehrnoosh; Pampal, Kutluk; Kurtipek, Ömer

    2018-01-01

    Sugammadex is a cylodextrin derivate that encapsulates steroidal neuromuscular blocker agents and is reported as a safe and well-tolerated drug. In this case report, we present a patient who developed grade 3 anaphylaxis just after sugammadex administration. A 22-year-old woman with diagnosis of Weaver syndrome was scheduled for bilateral mammoplasty and resection of unilateral accessory breast tissue resection. Anesthesia was induced and maintained by propofol, rocuronium, and remifentanil. At the end of the operation, sugammadex was administered and resulted in initially hypotension and bradycardia then the situation worsened by premature ventricular contraction and bigeminy with tachycardia, bronchospasm, and hypoxia. The Ring and Messmer clinical severity scale grade 3 anaphylactic reaction occurred just after sugammadex injection and the patient developed prolonged hypotension with recurrent cardiac arrhythmias in postoperative 12 hours. Treatment was initiated bolus injections of ephedrine, epinephrine, lidocaine, steroids and antihistaminic and continued with lidocaine bolus dosages and norepinephrine infusion for the postoperative period. The general condition of the patient improved to normal 3 hours after the sugammadex injection, and she was moved to the intensive care unit. At 2nd and 8th hours of intensive care unit follow-up, she developed premature ventricular contraction and bigeminy with the heart rate of 130 to 135 beats/min, which returned to sinus rhythm with 50 mg lidocaine. After that, no symptoms were observed and the patient was discharged to plastic surgery clinic at the following day. Sugammadex may result in life-treating anaphylactic reaction even in a patient who did not previously expose to drug. Moreover, prolonged cardiovascular collapse and cardiac arrhythmias may occur. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

  5. [Demographic analysis of a congenital heart disease clinic of the Mexican Institute of Social Security, with special interest in the adult].

    Science.gov (United States)

    Márquez-González, Horacio; Yáñez-Gutiérrez, Lucelli; Rivera-May, Jimena Lucely; López-Gallegos, Diana; Almeida-Gutiérrez, Eduardo

    2017-11-07

    Congenital heart disease (CHD) has an incidence of 8-10 cases per 1000 live births. In Mexico, there are 18,000-20,000 new cases per year. Most tertiary care centers for CHD attend only pediatric population; the Mexican Institute of Social Security (IMSS) has a clinic that attends pediatric and adult population. To analyze the demographic aspects of the CHD clinic of IMSS. From 2011 to 2016 a cross-sectional study of the CC clinic of a third level hospital of the IMSS, including all patients with confirmed structural heart disease of recent diagnosis was carried out. The sex, age, reference entity, antecedent of pregnancy and treatment were registered. The population was divided into age ranges (17.1 years). Descriptive statistics and χ 2 test were used in qualitative variables. 3,483 patients with CHD (male:female ratio, 0.8:1.2) were included. Increased pulmonary flow acyanogenic cardiopathies were the most frequent CHD group (47.2%), with atrial septal defect being the most frequent diagnosis overall; 25.6% were adults and 35% of women with a history of pregnancy. Chiapas was Federal entity with greater proportion of patients diagnosed in the adult stage (33.82%); 7% were not candidates for any treatment for complications of the disease. CHD is a late diagnosis; it is necessary to create a national register to promote new health policies and a rational distribution of resources for these patients. Copyright © 2017 Instituto Nacional de Cardiología Ignacio Chávez. Publicado por Masson Doyma México S.A. All rights reserved.

  6. 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

  7. Diagnosis, gB genotype distribution and viral load of symptomatic congenitally infected CMV patients in Cuba.

    Science.gov (United States)

    Correa, C; Kourí, V; Pérez, L; Soto, Y; Limia, C

    2016-10-01

    Cytomegalovirus (CMV) is the leading cause of viral congenital infection. Some viral factors have been proposed to be CMV pathogenicity markers. The objective of this study was to investigate the frequency of congenital CMV infection in symptomatic patients and the possible association with the CMV glycoprotein B (gB) genotype and viral load. A total of 361 newborns (NB) and 158 pregnant women (PW) with clinically suspected CMV infection were enrolled. Studied samples included urine, saliva, serum, vaginal swabs and amniotic fluid. CMV infection was diagnosed by multiplex nested PCR. CMV gB genotyping was performed on infected samples, followed by viral load determination. Overall, 18.7% of the tested patients were positive for CMV infection, 19.7% of NB were congenitally infected and 16.5% of PW showed active CMV infection. gB-2 was the most prevalent genotype detected (39/97 patients). gB CMV mixed infections were detected in 12 patients. gB-2 was associated with mono-infections (PCMV load was statistically significant among patients presenting different clinical signs (P=0.04). This study showed that CMV is a frequent cause of congenital infection in symptomatic Cuban patients. Despite gB2 being the most frequently detected, gB-4 was the only genotype associated with clinical features (sepsis-like syndrome in NB). No other associations among specific genotypes and clinical characteristics were found. Further studies are needed to clarify the role that viral load and genotype play in the outcome of congenital infection.

  8. MR-guided transgluteal biopsies with an open low-field system in patients with clinically suspected prostate cancer: technique and preliminary results

    Energy Technology Data Exchange (ETDEWEB)

    Zangos, Stephan [Johann Wolfgang Goethe-University, Department of Diagnostic and Interventional Radiology, University Hospital Frankfurt, Frankfurt/Main (Germany); Johann Wolfgang Goethe-University, Institute for Diagnostic and Interventional Radiology, Frankfurt/Main (Germany); Eichler, Katrin; Engelmann, Kerstin; Ahmed, Mukhtiar; Dettmer, Sebastian; Herzog, Christopher; Pegios, Wasilios; Wetter, A.; Lehnert, Thomas; Mack, Martin G.; Vogl, Thomas J. [Johann Wolfgang Goethe-University, Department of Diagnostic and Interventional Radiology, University Hospital Frankfurt, Frankfurt/Main (Germany)

    2005-01-01

    The purpose of this study was to examine the feasibility and safety of MR-guided biopsies with a transgluteal approach in patients with uncertain or suspicious prostate lesions. Twenty-five patients with uncertain or suspicious focal prostate lesions detected by high-field MR imaging of the prostate gland using endorectal coil imaging were biopsied with a transgluteal approach in a low-field MRI system (0.2 T, Concerto, Siemens). The procedures were guided using T1-weighted FLASH sequences. The prostate gland was biopsied repeatedly with a coaxial technique through a 15-gauge pencil tip with a 16-gauge biopsy handy (median 3.8 samples per patient). Complications and biopsy findings were documented retrospectively. Using T1-weighted sequences biopsy procedures were performed successfully with MR guidance in all cases without any side effects or complications. The median intervention time was 11.3 min. Pathological findings revealed ten cases of hyperplasia or atrophy, three cases of prostatitis, ten cases of carcinoma and two cases of normal tissue. The clinical follow-up showed that in two patients prostate cancer was missed at MR-guided biopsy. Transgluteal MR-guided biopsy of the prostate gland is a safe and promising approach for histological clarification of uncertain or suspicious lesions. (orig.)

  9. Cerebral microcalcifications in a newborn with congenital tuberculosis.

    Science.gov (United States)

    Cifuentes, Yolanda; Murcia, Martha Isabel; Piar, Jorge; Pardo, Patricia

    2016-03-03

    Tuberculosis is a serious public health problem worldwide. In 2012, the World Health Organization estimated 8.6 million new cases and 1.3 million deaths due to the disease. In 2011, the incidence in Colombia was 24 cases per 100,000 inhabitants. There is little information about tuberculosis in pregnant women, and congenital infection is considered a rare disease that is difficult to diagnose, leads to high mortality, and may be confused with tuberculosis acquired after birth. In addition, it has been associated with HIV infection in mothers and infants. Moreover, there is increasing incidence of congenital syphilis in the world. In Colombia, the prevalence is 2.5 cases per 1,000 births and its frequency in the Instituto Materno Infantil-Hospital La Victoria is one case per 57 births. We report the case of a newborn under treatment for congenital syphilis and in whom microcalcifications were found in a transfontanelar ultrasound. This finding warned about the existence of another infectious agent. PCR was negative for cytomegalovirus, and IgM titers for toxoplasma, rubella and herpes I and II were also negative. After learning about a history of incomplete treatment for tuberculosis in the mother, we suspected the presence of an infection by the tubercle bacillus in the newborn. No acid-fast bacilli were demonstrated in three gastric juice samples. The IS6110 PCR assay was found positive in cerebrospinal fluid and urine, but not in blood. The newborn was treated with crystalline penicillin for 10 days along with isoniazid, rifampicin, pyrazinamide and streptomycin. The patient is currently under clinical monitoring.

  10. Elderly patients with suspected chronic digoxin toxicity: A comparison of clinical characteristics of patients receiving and not receiving digoxin-Fab.

    Science.gov (United States)

    Arbabian, Hooman; Lee, Hwee Min; Graudins, Andis

    2018-04-01

    The aim of the present study was to compare clinical features of patients with elevated serum digoxin concentrations who were treated with digoxin-Fab with those where the immunotherapy was not given by a tertiary hospital toxicology service. This was a retrospective series of patients with supratherapeutic serum digoxin concentrations referred to the toxicology service from August 2013 to October 2015. Data collected included demographics, presenting complaint, digoxin dose, other medications taken, serum digoxin, potassium and creatinine concentration on presentation and initial and post-digoxin-Fab heart rate. There were 47 referrals. Digoxin-Fab was administered in 21 cases. It was given more commonly when the heart rate was 5.0 mmol/L. Patients receiving digoxin-Fab were more likely to be on maintenance therapy with beta-blockers or calcium channel blockers (95% vs 61%; OR 13.1; 95% CI 1.5-113) and/or potassium-sparing medications (95% vs 54%; OR 17.1; 95% CI 2.0-147). They had elevated serum creatinine (76% vs 42%; OR 8.2; 95% CI 1.9-34), higher serum potassium (median: 5.1 mmol/L vs 4.2 mmol/L, P = 0.02), higher serum digoxin concentration (median: 3.5 nmol/L vs 2.3 nmol/L, P = 0.02) and pretreatment heart rate Fab. However, individual heart rate response to digoxin-Fab was variable. Digoxin-Fab was more commonly administered when heart rate was Fab was variable as patients were using other negative chronotropic medications. In symptomatic bradycardic patients on multiple heart failure medications, positive chronotropic and potassium-lowering therapies should be considered in concert with digoxin-Fab. © 2018 Australasian College for Emergency Medicine and Australasian Society for Emergency Medicine.

  11. Comparison of renal allograft (AG) biopsy diagnosis and temporal quantitation of Tc-99m sulfur colloid (SC) in clinically suspected AG rejection

    International Nuclear Information System (INIS)

    George, E.A.; Brown, W.N.; Carney, K.; Naidu, R.G.; Palmer, D.C.

    1984-01-01

    The purpose of this study was to evaluate the diagnostic efficacy of temporal quantitation of SC compared to tissue diagnosis of AG needle biopsy (Bx). The principal clinical criteria for patient selection were sequential or persistent reduction (at least 40-50%) of AG function as determined by serial serum creatinine levels. Thirty-four AG recipients were examined with SC and subsequent AG Bx in 37 instances. %SC AG accumulation and bone marrow extraction were interpreted in view of the significant sequential of persistent reduction of Ag function. Each AG Bx was collected from multiple needle aspirates and processed for light microscopy and immunoflorescent staining. Bx and SC exam were evaluated for acute rejection (AR), chronic rejection (CR) or other, non-rejection pathology. Acute tissue changes superimposed on chronic were regarded as AR. Acute tissue changes and % SC AG accumulation in the rejection range were graded as mild, moderate and marked. In AR there was 28/28 agreement of Bx and SC diagnosis; of which 7/28 were superimposed on CR. In Cr Bx and SC agreed in 3/7 instances, in 3/7 SC Dx was AR and in 1/7 SC exam was normal. Sensitivity and specificity of the SC diagnosis in this series was 100% and 63% for AR, 43% and 100% for CR and 97% and 100% in all instances of rejection. Bx and SC grading of AR agreed in 64%. In conclusion, temporal quantitation of SC demonstrated overall good correlation with AG Bx diagnosis in this series. The poor sensitivity of 43% of SC in Cr and only 64% correlation in grading AR may be due to inherent Bx sampling and SC data analysis error

  12. Comparative evaluation of uniplex, nested, semi-nested, multiplex and nested multiplex PCR methods in the identification of microbial etiology of clinically suspected infectious endophthalmitis.

    Science.gov (United States)

    Bharathi, Madasamy Jayahar; Murugan, Nandagopal; Rameshkumar, Gunasekaran; Ramakrishnan, Rengappa; Venugopal Reddy, Yerahaia Chinna; Shivkumar, Chandrasekar; Ramesh, Srinivasan

    2013-05-01

    This study is aimed to determine the utility of various polymerase chain reaction (PCR) methods in vitreous fluids (VFs) for detecting the infectious genomes in the diagnosis of infectious endophthalmitis in terms of sensitivity and specificity. This prospective and consecutive analysis included a total of 66 VFs that were submitted for the microbiological evaluation, which were obtained from 66 clinically diagnosed endophthalmitis patients presented between November 2010 and October 2011 at the tertiary eye care referral centre in South India. Part of the collected VFs were subjected to cultures and smears, and the remaining parts were utilized for five PCR methods: uniplex, nested, semi-nested, multiplex and nested multiplex after extracting DNA, using universal eubacterial and Propionibacterium acnes species-specific primer sets targeting 16S rRNA gene in all bacteria and P. acnes, and panfungal primers, targeting 28S rRNA gene in all fungi. Of the 66 VFs, five (7.5%) showed positive results in smears, 16 (24%) in cultures and 43 (65%) showed positive results in PCRs. Among the 43 positively amplified VFs, 10 (15%) were positive for P. acnes genome, one for panfungal genome and 42 (62%) for eubacterial genome (including 10 P. acnes positives). Among 42 eubacterial-positive VFs, 36 were positive by both uniplex (first round) and multiplex (first round) PCRs, while nested (second round) and nested multiplex (second round) PCRs produced positive results in 42 and 41 VFs, respectively. Of the 43 PCR-positive specimens, 16 (37%) had positive growth (15 bacterial and one fungal) in culture. Of 50 culture-negative specimens, 27 (54%) were showed positive amplification, of which 10 were amplified for both P. acnes and eubacterial genomes and the remaining 17 were for eubacterial genome alone. Nested PCRs are superior than uniplex and multiplex PCR. PCRs proved to be a powerful tool in the diagnosis of endophthalmitis, especially for detecting uncultured microbes.

  13. DIAGNOSIS OF CONGENITAL CYTOMEGALOVIRUS INFECTION IN HIGH RISK NEONATES

    Directory of Open Access Journals (Sweden)

    Ehab abdelmoniem Albanna

    2013-07-01

    Full Text Available Objectives: This study aimed to compare polymerase chain reaction (PCR and IgM detection using enzyme linked immune-sorbent assay (ELISA in diagnosis of congenital cytomegalovirus (CMV infection.   Methods: This study was conducted from May 2009 to December 2010. Urine and blood samples were collected from 94 neonates with suspected congenital CMV infection. Serum and part of urine samples were stored at -20°C freezer, until the serologic and PCR tests were achieved. A 94 fresh urine samples were processed for cell culture. Nineteen (20.2% out of 94 urine samples were proven positive for CMV infection by viral culture. For comparing PCR and IgM ELISA we used tissue culture technique as a reference, the 19 positive samples on culture (CMV group and 20 negative samples (control group were included in the comparison. Some characteristics of CMV and control groups were compared including sex, age, birth weight, gestational age < 37 and small for gestational age. Clinical and laboratory abnormalities were also compared in both groups.   Results: This study showed that the sensitivity and specificity of PCR in relation to viral culture were 100% and 100% respectively, there was excellent agreement between both tests (Kappa coefficient was 1 and P=0.000. On the other hand, the sensitivity of IgM CMV ELISA in relation to viral culture was 63.2% and the specificity was 85%. There was good agreement between both tests (Kappa coefficient was 0.48 and P=0.002. By comparing CMV and control groups, there were high statistically significant differences between both groups as regard the birth weight, gestational age < 37 and small for gestational age items (P= 0.00, 0.03 and 0.01 respectively. There were statistically insignificant differences as regarding the clinical and laboratory abnormalities detected for neonates of both groups. In this study jaundice (63% and hepato-splenomegaly (42% were the most common clinical signs in both groups.   Conclusion

  14. Congenital platelet function defects

    Science.gov (United States)

    ... pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that cause reduced platelet function. Most of the time, people with these disorders have ...

  15. 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 © ...

  16. Congenital heart disease

    Science.gov (United States)

    Congenital heart disease (CHD) is a problem with the heart's structure and function that is present at birth. ... Fraser CD, Kane LC. Congenital heart disease. In: Townsend CM Jr, ... Sabiston Textbook of Surgery: The Biological Basis of Modern ...

  17. Congenital adrenal hyperplasia: Case report.

    OpenAIRE

    Jaime Avaria E.; María José Vargas F.; Loreto Triviño F.; Andrea Gleisner E.

    2013-01-01

    INTRODUCTION: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease whose main cause is the deficiency of 21-hydroxylase, an enzyme involved in the synthesis of cortisol and aldosterone. There are two forms of CAH, a classical and nonclassical form, being the first objective of analysis in the clinical case. Its clinical manifestations vary in severity, depending on the level of hormone deficiency. Within the classic is described the salt-wasting form, whose consequences are ...

  18. The genetic landscape of familial congenital hydrocephalus.

    Science.gov (United States)

    Shaheen, Ranad; Sebai, Mohammed Adeeb; Patel, Nisha; Ewida, Nour; Kurdi, Wesam; Altweijri, Ikhlass; Sogaty, Sameera; Almardawi, Elham; Seidahmed, Mohammed Zain; Alnemri, Abdulrahman; Madirevula, Sateesh; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Sallout, Bahauddin; AlBaqawi, Badi; AlAali, Wajeih; Ajaji, Nouf; Lesmana, Harry; Hopkin, Robert J; Dupuis, Lucie; Mendoza-Londono, Roberto; Al Rukban, Hadeel; Yoon, Grace; Faqeih, Eissa; Alkuraya, Fowzan S

    2017-06-01

    Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease. Exome sequencing combined, where applicable, with positional mapping. We identified a likely causal mutation in the majority of these families (21 of 27, 78%), spanning 16 genes, none of which is X-linked. Ciliopathies and dystroglycanopathies were the most common etiologies of congenital hydrocephalus in our cohort (19% and 26%, respectively). In 1 family with 4 affected members, we identified a homozygous truncating variant in EML1, which we propose as a novel cause of congenital hydrocephalus in addition to its suggested role in cortical malformation. Similarly, we show that recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus. Furthermore, we confirm the previously reported candidacy of MPDZ by presenting a phenotypic spectrum of congenital hydrocephalus associated with 5 recessive alleles. Our study highlights the importance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogeneity of this condition. Ann Neurol 2017;81:890-897. © 2017 American Neurological Association.

  19. Perinatal and early infantile symptoms in congenital disorders of glycosylation

    NARCIS (Netherlands)

    Funke, S.; Gardeitchik, T.; Kouwenberg, D.; Mohamed, M.; Wortmann, S.B.; Korsch, E.; Adamowicz, M.; Al-Gazali, L.; Wevers, R.A.; Horvath, A.; Lefeber, D.J.; Morava, E.

    2013-01-01

    Congenital disorders of glycosylation (CDG) are a rapidly growing family of inborn errors. Screening for CDG in suspected cases is usually performed in the first year of life by serum transferrin isoelectric focusing or mass spectrometry. Based on the transferrin analysis patients can be

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

    Directory of Open Access Journals (Sweden)

    Oleksii Slepov

    2016-01-01

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

  1. Congenital Intrahepatic Portosystemic Shunts

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Woong Hee; Kim, Young Tong; Jou, Sung Shick; Shin, Hyeong Cheol [Soonchunhyang University, Asan (Korea, Republic of)

    2008-12-15

    Intrahepatic portosystemic shunts are an anomalous connection between the portal vein and hepatic vein/IVC, which may be either congenital or acquired secondary to liver cirrhosis or portal hypertension. Cases of congenital intrahepatic shunts are usually encountered in children and may spontaneously resolve. We report 5 cases of congenital intrahepatic portosystemic shunts in neonates and an adult

  2. CT diagnosis of congenital anomalies of the central nervous system

    International Nuclear Information System (INIS)

    Mori, Koreaki

    1980-01-01

    In the diagnosis of central nervous system congenital anomalies, understanding of embryology of the central nervous system and pathophysiology of each anomaly are essential. It is important for clinical approach to central nervous system congenital anomalies to evaluate the size of the head and tention of the anterior fontanelle. Accurate diagnosis of congenital anomalies depends on a correlation of CT findings to clinical pictures. Clinical diagnosis of congenital anomalies should include prediction of treatability and prognosis, in addition to recognition of a disease. (author)

  3. Congenital syphilis

    Science.gov (United States)

    ... following blood tests: Fluorescent treponemal antibody absorbed test ( FTA-ABS ) Rapid plasma reagin ( RPR ) Venereal disease research ... 2015 Updated by: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School ...

  4. Congenital extrahepatic portosystemic shunts

    Energy Technology Data Exchange (ETDEWEB)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S. [Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, Ontario (Canada)

    2003-09-01

    A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

  5. Congenital extrahepatic portosystemic shunts

    International Nuclear Information System (INIS)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S.

    2003-01-01

    A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

  6. Interventions for suspected placenta praevia.

    Science.gov (United States)

    Neilson, J P

    2003-01-01

    Because placenta praevia is implanted unusually low in the uterus, it may cause major, and/or repeated, antepartum haemorrhage. The traditional policy of care of women with symptomatic placenta praevia includes prolonged stay in hospital and delivery by caesarean section. To assess the impact of any clinical intervention applied specifically because of a perceived likelihood that a pregnant woman might have placenta praevia. A comprehensive electronic search was performed to identify relevant literature. Searched databases included the Trials Register maintained by the Cochrane Pregnancy and Childbirth Group (August 2002), and the Cochrane Controlled Trials Register (The Cochrane Library, Issue 2, 2002). Any controlled clinical trial that has assessed the impact of an intervention in women diagnosed as having, or being likely to have, placenta praevia. Data were extracted, unblinded, by the author without consideration of results. Three trials were included, involving a total of 114 women. Both tested interventions (home versus hospitalisation and cervical cerclage versus no cerclage) were associated with reduced lengths of stay in hospital antenatally: weighted mean difference (WMD) respectively -18.50 days (95% confidence interval (CI) -26.83 to -10.17), -4.80 days (95% CI -6.37 to -3.23). Otherwise, there was little evidence of any clear advantage or disadvantage to a policy of home versus hospital care. The one woman who had a haemorrhage severe enough to require immediate transfusion and delivery was in the home care group. Cervical cerclage may reduce the risk of delivery before 34 weeks: relative risk (RR) 0.45 (95% CI 0.23 to 0.87), or the birth of a baby weighing less than two kilograms RR 0.34 (0.14 to 0.83) or having a low five minute Apgar score RR 0.19 (0.04 to 1.00). In general, these possible benefits were more evident in the trial of lower methodological quality. There are insufficient data from trials to recommend any change in clinical practice

  7. [Sex differences in congenital heart disease].

    Science.gov (United States)

    Aubry, P; Demian, H

    2016-12-01

    Gender influences the clinical presentation and the management of some acquired cardiovascular diseases, such as coronary artery disease, resulting in different outcomes. Differences between women and men are also noticed in congenital heart disease. They are mainly related to the prevalence and severity of some congenital heart defects at birth, and in adulthood to the prognosis, incidence of Eisenmenger syndrome and risks of pregnancy. The role of gender on the risk of operative mortality of congenital heart surgery remains debated. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  8. Cardiovascular magnetic resonance in congenital heart disease

    International Nuclear Information System (INIS)

    Cazacu, A.; Ciubotaru, A.

    2010-01-01

    The increasing prevalence of congenital heart disease can be attributed to major improvements in diagnosis and treatment. Cardiovascular magnetic resonance imaging plays an important role in the clinical management strategy of patients with congenital heart disease. The development of new cardiovascular magnetic resonance (CMR) techniques allows comprehensive assessment of complex cardiac anatomy and function and provides information about the long-term residual post-operative lesions and complications of surgery. It overcomes many of the limitations of echocardiography and cardiac catheterization. This review evaluates the role of cardiovascular magnetic resonance imaging modality in the management of subject with congenital heart disease (CHD). (authors)

  9. Genetic testing for clinically suspected spinocerebellar ataxias ...

    Indian Academy of Sciences (India)

    Sowmya Devatha Venkatesh

    2018-03-13

    Mar 13, 2018 ... 5 Department of Psychology, Florida State University, Tallahassee, FL 32304, USA ... 2000; Sinha et al. 2004). Most epidemiological studies on the preva- ... tion may be due to a very recent admixture event (Singh et al. 2010).

  10. Genetic testing for clinically suspected spinocerebellar ataxias ...

    Indian Academy of Sciences (India)

    Mahesh

    Research Article. Genetic ... Melbourne, Australia and Department of Animal Science, School of Life .... The patients were assessed according to the International Cooperative Ataxia Rating ..... The Indian Journal of Medical Research 126(5):.

  11. Clinical assessment of suspected child physical abuse

    International Nuclear Information System (INIS)

    Rohrer, T.

    2009-01-01

    Violence against children has many faces. Child physical abuse, neglect, sexual abuse and interparental violence can cause acute and permanent damage and affect children's development and their life plans in the long term. In industrialized nations almost 1 child in 10 is affected. Up to 10% of child physical abuse cases involve the central nervous system with 80% of these cases occurring during the first year of life. Worldwide more than 50,000 children die as a result of violence, abuse and neglect every year, according to the United Nations Children's Fund UNICEF. In Germany, there are about 120 cases of non-accidental head injury per year. In addition to the officially known cases there is a large grey area for all forms of violence. Recognition of these cases and the provision of help for the victims require an appropriate suspicion and understanding of the pertinent pathophysiology. Suspicion must be based on a well-documented medical history and multidisciplinary diagnostic assessment. Medical confidentiality prevents the disclosure of such information making early detection networks and guidelines for collaboration absolutely indispensable. (orig.) [de

  12. Clinical observation of modified frontalis tendon flap suspension in the treatment of severe congenital blepharoptosis in children

    Directory of Open Access Journals (Sweden)

    Yan Guo

    2018-01-01

    Full Text Available AIM: To investigate the long-term clinical effect of modified frontalis tendon flap suspension in the treatment of severe blepharoptosis in children. METHODS: A total of 83 cases(114 eyesof modified frontalis tendon flap suspension for children severe blepharoptosis correction were analyzed between January 2009 to December 2011 for the efficacy and complications of this surgery. Follow-up observation for 5a.RESULTS: In the fifth year after operation, there were 84 eyes(73.7%with correction and satisfactory correction, 30 eyes(26.3%were corrected, and the operation was satisfactory. Postoperative complications included 4 eyes(3.5%of inverted eyelashes, of which 3 eyes were given suture traction at 1/3 interior of the gray line, 1wk later inverted eyelashes disappeared, 1 eye of secondary surgery. Conjunctival prolapse was in 2 eyes(1.8%, the application of corticosteroids eye drops, pressure bandage were used for 1wk and conjunctival prolapse disappeared. There was no recurrence of keratitis, eyelid ectropion, septum separation, eyelid angular deformity, hematoma formation, infection and other complications. Postoperative retrograde retrogression and lateral eyelid folds disappear were the most common problems of long-term follow-up. CONCLUSION: The study shows that this surgical technique is a satisfied method to treat severe blepharoptosis and predictable with few complications.

  13. Isolated congenital heart block in undifferentiated connective tissue disease and in primary Sjögren’s syndrome: a clinical study of 81 pregnancies in 41 patients

    Directory of Open Access Journals (Sweden)

    S. Todesco

    2011-09-01

    Full Text Available Objective: To study the incidence and the features of congenital heart block (CHB in patients with undifferentiated connective tissue disease (UCTD and primary Sjögren’s syndrome (pSS. Methods: We studied 81 pregnancies of 41 women attending the Outpatients’ Clinic of the Rheumatology Unit of University Hospital of Padova from July 1989 to March 2004. Twenty five of these (61% were affected with UCTD and 16 (39% with pSS. Serologic inclusion criteria was anti-Ro/La positivity, assessed by counterimmunoelectrophoresis and ELISA. Results: CHB was found in 2 out of the 46 (4,3% pregnancies followed by our Staff and in 2 out of the 35 (5,7% included in the retrospective part of the study. In 3 cases CHB was a 3rd degree block, causing pregnancy termination in 2. The only 2nd degree block was identified in one patient at the 22nd week of gestation and treated with dexamethasone and plasma-exchange. All of the women were positive to 52 kd and 60 kd Ro autoantibodies. CHB mothers had higher titer antibodies to 52 kd Ro protein than did the mothers with healthy infants (P = 0,026. Electrocardiographic abnormalities at birth were found in 3 out of 29 asymptomatic infants. One presented sinus bradycardia, the second abnormalities of ventricular repolarization, both regressed spontaneously, while the third ventricular extrasystoles which continue even now at 5 months. Conclusion: These results showed that in UCTD and pSS there is a higher incidence of CHB than that reported in Systemic Lupus Erythematosus. Electrocardiographic screening in all infants born to mothers with anti-Ro/La antibodies would seem an important measure to identify those with irreversible heart conduction abnormalities.

  14. Vascular factors in suspected normal pressure hydrocephalus

    Science.gov (United States)

    Agerskov, Simon; Rabiei, Katrin; Marlow, Thomas; Jensen, Christer; Guo, Xinxin; Kern, Silke; Wikkelsø, Carsten; Skoog, Ingmar

    2016-01-01

    Objective: We examined clinical and imaging findings of suspected idiopathic normal pressure hydrocephalus (iNPH) in relation to vascular risk factors and white matter lesions (WMLs), using a nested case-control design in a representative, population-based sample. Methods: From a population-based sample, 1,235 persons aged 70 years or older were examined with CT of the brain between 1986 and 2000. We identified 55 persons with hydrocephalic ventricular enlargement, i.e., radiologic findings consistent with iNPH. Among these, 26 had clinical signs that fulfilled international guideline criteria for probable iNPH. These cases were labeled suspected iNPH. Each case was matched to 5 controls from the same sample, based on age, sex, and study cohort. Data on risk factors were obtained from clinical examinations and the Swedish Hospital Discharge Register. History of hypertension, diabetes mellitus (DM), smoking, overweight, history of coronary artery disease, stroke/TIA, and WMLs on CT were examined. Risk factors associated with iNPH with a p value <0.1 in χ2 tests were included in conditional logistic regression models. Results: In the regression analyses, suspected iNPH was related to moderate to severe WMLs (odds ratio [OR] 5.2; 95% confidence interval [CI]: 1.5–17.6), while hydrocephalic ventricular enlargement was related to hypertension (OR 2.7; 95% CI: 1.1–6.8), moderate to severe WMLs (OR 6.5; 95% CI: 2.1–20.3), and DM (OR 4.3; 95% CI: 1.1–16.3). Conclusions: Hypertension, WMLs, and DM were related to clinical and imaging features of iNPH, suggesting that vascular mechanisms are involved in the pathophysiology. These findings might have implications for understanding disease mechanisms in iNPH and possibly prevention. PMID:26773072

  15. Thickened cortical bones in congenital neutropenia

    International Nuclear Information System (INIS)

    Boechat, M.I.; Gormley, L.S.; O'Laughlin, B.J.

    1987-01-01

    Congenital neutropenia is an uncommon entity which may be familial and has a wide spectrum of clinical expression. Three sisters with the severe form of the disease, that suffered from recurrent infections which lead to their demise are described. Review of their radiographs revealed the presence of cortical thickening of the bones. Although several syndroms with different bone abnormalities have been reported associated with neutropenia, the radiographic finding of thickened cortex in children with congenital neutropenia has not been previously described. (orig.)

  16. Thickened cortical bones in congenital neutropenia

    Energy Technology Data Exchange (ETDEWEB)

    Boechat, M.I.; Gormley, L.S.; O' Laughlin, B.J.

    1987-02-01

    Congenital neutropenia is an uncommon entity which may be familial and has a wide spectrum of clinical expression. Three sisters with the severe form of the disease, that suffered from recurrent infections which lead to their demise are described. Review of their radiographs revealed the presence of cortical thickening of the bones. Although several syndroms with different bone abnormalities have been reported associated with neutropenia, the radiographic finding of thickened cortex in children with congenital neutropenia has not been previously described.

  17. Solitary ulcerated congenital giant juvenile xanthogranuloma

    Directory of Open Access Journals (Sweden)

    Su Yuen Ng

    2015-01-01

    Full Text Available A 3-month-old female patient with a giant ulcerated nodule over the back since birth was diagnosed as congenital giant juvenile xanthogranuloma (JXG based on clinical and histopathological examination. Congenital giant JXG with ulceration at birth is a rare presentation of JXG and commonly misdiagnosed. This case emphasizes the importance of being aware of the myriad presentations of JXG in order to make a correct diagnosis and avoid unnecessary investigations or treatment.

  18. Magnetic resonance angiography in suspected cerebral vasculitis

    International Nuclear Information System (INIS)

    Demaerel, Philippe; De Ruyter, Nele; Wilms, Guido; Maes, Frederik; Velghe, Beatrijs

    2004-01-01

    The purpose of this study was to determine the technical capacity and diagnostic accuracy of 3D time-of-flight magnetic resonance angiography (MRA) in suspected cerebral vasculitis in a retrospective analysis of MRA and digital subtraction angiography (DSA) in 14 young patients with clinical and/or radiological suspicion of cerebral vasculitis. A total of nine arteries were evaluated in each patient. Consensus review of DSA by three observers was the reference standard. The sensitivity for detecting a stenosis varied from 62 to 79% for MRA and from 76 to 94% for DSA, depending on the observer. The specificity for detecting a stenosis varied from 83 to 87% for MRA and from 83 to 97% for DSA. Using the criterion ''more than two stenoses in at least two separate vascular distributions'' to consider the examination as being true positive, the false-positive rates for MRA and DSA were comparable. MRA plays a role as the first angiographical examination in the diagnostic work-up of suspected cerebral vasculitis. When more than two stenoses in at least two separate vascular distributions are depicted on MRA, DSA is not expected to add a significant diagnostic contribution in a patient with suspected cerebral vasculitis. DSA remains necessary when MRA is normal or when less than three stenoses are seen. (orig.)

  19. Magnetic resonance angiography in suspected cerebral vasculitis

    Energy Technology Data Exchange (ETDEWEB)

    Demaerel, Philippe; De Ruyter, Nele; Wilms, Guido [Department of Radiology, Universitair Ziekenhuis, KU Leuven, 3000, Leuven (Belgium); Maes, Frederik [Department of Medical Imaging Computing, Universitair Ziekenhuis, KU Leuven, 3000, Leuven (Belgium); Velghe, Beatrijs [Department of Radiology, Ziekenhuis Oost-Limburg, Schiepse Bos 6, 3600, Genk (Belgium)

    2004-06-01

    The purpose of this study was to determine the technical capacity and diagnostic accuracy of 3D time-of-flight magnetic resonance angiography (MRA) in suspected cerebral vasculitis in a retrospective analysis of MRA and digital subtraction angiography (DSA) in 14 young patients with clinical and/or radiological suspicion of cerebral vasculitis. A total of nine arteries were evaluated in each patient. Consensus review of DSA by three observers was the reference standard. The sensitivity for detecting a stenosis varied from 62 to 79% for MRA and from 76 to 94% for DSA, depending on the observer. The specificity for detecting a stenosis varied from 83 to 87% for MRA and from 83 to 97% for DSA. Using the criterion ''more than two stenoses in at least two separate vascular distributions'' to consider the examination as being true positive, the false-positive rates for MRA and DSA were comparable. MRA plays a role as the first angiographical examination in the diagnostic work-up of suspected cerebral vasculitis. When more than two stenoses in at least two separate vascular distributions are depicted on MRA, DSA is not expected to add a significant diagnostic contribution in a patient with suspected cerebral vasculitis. DSA remains necessary when MRA is normal or when less than three stenoses are seen. (orig.)

  20. Congenital TORCH infections of the brain--CT manifestation (with analysis of 7 cases)

    International Nuclear Information System (INIS)

    Li Xin; Li Minglin; Yang Zhiyong

    1997-01-01

    To study the neuropathologic changes and CT manifestations in congenital TORCH infection of the brain. Analysis of 7 cases of congenital TORCH infection of the neonates and infants demonstrated by serum examination was performed. There were congenital toxoplasmosis 3 cases, congenital syncytial virus infection 1 case, congenital rubella virus infection 1 case, congenital cytomegalovirus infection 2 cases, and congenital herpes simplex virus infection 1 case. Cerebral hypoplasia, ventricular dilatation or hydrocephalus, subependymal and parenchymal calcifications, microcephalic focal cortical migration anomalies, schizencephaly polymicrogyria, et al, were demonstrated by CT with congenital TORCH infection. The earlier the infection, the more severe the brain developmental anomalies. The extent and appearance of calcification in brain were related to the degree, extent and course of TORCH infection. Basal ganglia calcification of unknown cause in infant was suggestive of congenital TORCH infection. Typical CT manifestations together with clinical picture may suggest congenital TORCH infection, while serological test can be diagnostic

  1. Congenital sensorineural hearing loss

    International Nuclear Information System (INIS)

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

    1984-01-01

    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

  2. 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.

  3. Bleeding Episodes Among Patients with Congenital Fibrinogen Disorders, a Study On 12 New Iranian Patients

    Directory of Open Access Journals (Sweden)

    Majid Naderi

    2018-01-01

    Full Text Available Background: Congenital fibrinogen disorders (CFDs comprise about 10% of rare bleeding disorders (RBDs. CFDs are divided into two groups of quantitative (afibrinogenemia and hypofibrinogenemia with autosomal recessive inheritance pattern, and qualitative (dysfibrinogenemia, hypodysfibrogenemia disorders, mainly with autosomal dominant inheritance pattern. Sistan and Baluchestan Province in Iran, with its high rate of consanguineous marriages, has a high incidence of RBDs including CFD. In the current study, we report clinical manifestations of patients with CFDs.Methods: Twelve new Iranian patients from Sistan and Baluchestan Province with different types of CFDs were selected for this study. Diagnosis of CFDs was based on clinical features and familial history followed by laboratory assessment by routine and specific coagulation tests including prothrombin time (PT and activated partial time tests (APTT, as well as FI activity assay by Clauss method.Results: Out of 12 patients, 3(25% had afibrinogenemia, 7(58.3% had hypofibrinogenemia while 2(16/7% were suspected of having dysfibrinogenemia. Although umbilical cord bleeding (UCB 9(75% was the most common clinical presentation among the study population, this feature was not observed among patients with dysfibrinogenemia. Hematoma (100% was the most common presentation of patients with dysfibrinogenemia.  Conclusion: Results of this study revealed that some clinical presentations are the diagnostic features of CFDs and can be used for precise and in-time diagnosis CFDs in conjunction with family history and laboratory findings.Keywords: Fibrinogen Deficiency; Congenital Afibrinogenemia; Blood Coagulation Disorder; Afibrinogenemia

  4. The radiographic diagnosis of early attacking congenital syphilis of bone

    International Nuclear Information System (INIS)

    Ji Yaping; Zhuge Moyi

    2005-01-01

    Objective: To explore the method of radiological diagnosis of early attacking congenital syphilis. Methods: Seven cases of early attacking congenital syphilis of bone were retrospectively analyzed, diagnosed serologically, and were taken X-rays of the long bones. Results: Bone radiographs abnormalities were identified in 6 of 7 cases. Five cases suffered periotities, six cases metaphysitis, and three cases combined with diaphysitis. Seven cases had swollen soft tissue. The vertebraes, craniums and epiphysitis were not found abnormal in 7 cases. Diffusion, multiple and symmetric metaphysitis, periosteitis and osteitis were the radiological characters of congenital syphilis of bone. Conclusion: Radiography can affirm the diagnose of early attacking congenital syphilis and definite the arrange and depth. Radiographs of the extremities should be routinely taken in suspected infants. (authors)

  5. Prime Suspect, Second Row Center

    Science.gov (United States)

    Laird, Ellen A.

    2011-01-01

    His father had been hacked to death in his own bed with an ax the previous November. His mother was similarly brutalized and left for dead with her husband but survived. On the last Monday of that August, after several months and many investigative twists, turns, and fumbles, there sat the son--the prime suspect--in Ellen Laird's literature class,…

  6. Nuclear Pedigree Criteria of Suspected HNPCC

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    Kładny Józef

    2003-01-01

    Full Text Available Abstract The criteria for the diagnosis of HNPCC established by the ICG-HNPCC are very restrictive as they do not allow for the diagnosis of a large number of "suspected HNPCC" cases - these are families which do no fulfill the strict diagnostic "Amsterdam criteria", but do present with several pedigree and clinical features characteristic for HNPCC. Several series of families suspected of harboring germline mutations in DNA mismatch repair genes have been studied for germline changes in DNA mismatch repair genes and a mutation rate of somewhere between 8-60% was found. Therefore a subgroup of members of the ICG-HNPCC has been working on pedigree/clinical diagnostic criteria for suspected HNPCC. Materials and methods Part I The study was based on two series of colorectal cancer (CRC cases: 1 HNPCC - this group comprised 190 patients affected by CRC from randomly selected families which fulfilled the Amsterdam II criteria registered in Düsseldorf, Germany (102 cases of CRC, Denmark (18 CRCs, Leiden, Holland (23 CRCs and Szczecin, Poland (47 CRCs. 2 Consecutive CRCs - this group comprised 629 (78.0% of 806 individuals with CRC diagnosed in 1991-1997 in the city of Szczecin (ca. 400,000 of inhabitants, Poland. Nuclear pedigrees in both groups were compared for frequency of occurrence of clinical features, that have been shown to be associated with HNPCC. Part II 52 consecutive CRC cases from Szczecin, matching the criteria recognized in part I as appropriate for diagnosis of cases "suspected of HNPCC" were studied for the occurrence of germline hMSH2/hMLH1 constitutional mutations using "exon by exon" sequencing. Results The combination of features - i.e. the occurrence of an HNPCC associated cancer (CRC or cancer of the endometrium, small bowel or urinary tract in a 1st degree relative of a CRC patient; at least one of the patients being diagnosed under age of 50 - appeared to be strongly associated to HNPCC with an OR - 161. Constitutional

  7. Neuropathological Changes and Clinical Features of Autism Spectrum Disorder Participants Are Similar to that Reported in Congenital and Chronic Cerebral Toxoplasmosis in Humans and Mice

    Science.gov (United States)

    Prandota, Joseph

    2010-01-01

    Anatomic, histopathologic, and MRI/SPET studies of autistic spectrum disorders (ASD) patients' brains confirm existence of very early developmental deficits. In congenital and chronic murine toxoplasmosis several cerebral anomalies also have been reported, and worldwide, approximately two billion people are chronically infected with T. "gondii"…

  8. Role of type-specific herpes simplex virus-1 and 2 serology as a diagnostic modality in patients with clinically suspected genital herpes: A comparative study in Indian population from a tertiary care hospital.

    Science.gov (United States)

    Patwardhan, Vrushali; Bhalla, Preena

    2016-01-01

    Type-specific serology (TSS) test for herpes simplex virus (HSV) have been used as a research tool in seroepidemiological studies for some years. However, TSS as a diagnostic modality for diagnosis of current episode of genital herpes is not well documented. To measure the seroprevalence of type-specific HSV Type 1 (HSV-1) and Type 2 (HSV-2) IgG antibodies in cases provisionally diagnosed as primary and recurrent genital herpes and to evaluate the role of TSS as a diagnostic modality for diagnosis of genital herpes versus polymerase chain reaction (PCR). A cross-sectional study was performed over a period of 10 months in which 44 adult patients with clinically suspected genital herpes were recruited. An in-house glycoprotein G gene base PCR was performed directly from the genital lesion specimen for simultaneous detection and typing of HSV. TSS was performed to detect IgG antibody against HSV-1 and 2 in all patients using commercially available kits, and the results were compared. Seroprevalence of HSV-1 IgG was 43% among primary and 65% among recurrent genital herpes cases (P = 0.22). Whereas that of HSV-2 IgG was found to be 14% and 83% in respective patient group (P = 0.0001). When compared to PCR results HSV-1 IgG detection in both primary and recurrent genital herpes diagnosis had poor specificity, positive predictive value, and sensitivity. Whereas, HSV-2 serology had a sensitivity of 13.33% and 73.33% in primary and recurrent genital herpes and specificity of 83.33% and 85.71%, respectively. HSV-2 IgG detection helps in strengthening the diagnosis of recurrent HSV-2 disease, whereas the absence of HSV-2 IgG antibody helps in excluding genital herpes as a likely cause of recurrent genital ulceration. However, detection of HSV-1 IgG antibody may not be useful for diagnosis in patients of genital ulcer disease.

  9. Optimization of physical rehabilitation in congenital clubfoot

    Directory of Open Access Journals (Sweden)

    M.L. Golovakha

    2013-09-01

    Full Text Available The aim of the study was to improve the results of treatment of children with typical form of congenital clubfoot by optimizing of physical rehabilitation. The study included the following objectives: to make the algorithm work with the child, to justify the basis of physical rehabilitation, to study its effects, to develop a framework of implementation and optimization of the physical rehabilitation of children with congenital clubfoot. In the course of the study were 62 children involved with the typical form of congenital clubfoot: the main group (n = 42 and control group (n = 42. Age children from 4 years to 7 years. Physical rehabilitation was a logical continuation of treatment. Optimization analysis was performed by clinical examination, radiometric data and indicators of functional methods of research. Comparative analysis of the results of the physical rehabilitation of children with congenital clubfoot in both groups showed a trend more pronounced positive changes in children the main group in all respects.

  10. Cytomegalovirus Congenital Cataract

    Directory of Open Access Journals (Sweden)

    Ridha Wahyutomo

    2011-06-01

    Full Text Available Cytomegalovirus congenital infection is an infection caused by the the subfamily â Herpesviridae, during pregnancy. The incidence of infections among newborn infants is 1 %. One of the effects of congenitally acquired infection is the congenital cataract. A 6-year-old child complained to have a blurred vision diagnosed with cytomegalovirus congenital cataract. The diagnosis was confirmed by a positive serology testing for Ig M and Ig G CMV. The laboratory test using Giemsa staining to find inclusion bodies and a faster PCR could not be carried out (Sains Medika, 3(1:84-88.

  11. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

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

  12. In what clinical settings should Cushing´s syndrome be suspected? ¿En qué situaciones clínicas debe sospecharse un síndrome de Cushing?

    Directory of Open Access Journals (Sweden)

    Oscar D. Bruno

    2009-12-01

    Full Text Available Despite its low frequency, endogenous Cushing's syndrome is not an exceptional clinical entity. A growing number of cases are currently derived to specialized centers suggesting an increasing knowledge of the clinical features of hypercortisolism by specialists of diverse branches of clinical medicine. Clinical signs derive from an exaggeration of the physiological actions of cortisol inducing protein breakdown, hyperglycemia, fat mobilization, dyslipidemia, hydrosaline retention, immunosuppression and increased susceptibility to infection. Despite its low specificity, symptoms such as unexplained development of central obesity, mood changes, fatigue, weakness, myopathy, easy bruisability, red striae, arterial hypertension, diabetes and hyperlipidemia, are suggestive of the diagnosis. From an epidemiological point of view, Cushing's syndrome is to be suspected and consequently searched for among patients with uncontrolled high blood pressure or diabetes mellitus, metabolic syndrome, polycystic ovarian syndrome, osteoporosis, depression or adrenal incidentaloma. True Cushing's syndrome has to be differentiated from pseudo syndromes. Most sensitive physical signs for discriminating Cushing's syndrome from pseudo-Cushing states are the presence of supraclavicular fat pads, myopathy, thin skin and easy bruising. The recognition of the clinical manifestations of Cushing's syndrome and of the sub-populations at risk of contracting the disease should be improved through medical education at the medical school and at postgraduate levels. Clinical detection of Cushing's syndrome must be performed mainly by non-endocrinologists, yet its etiological diagnosis and therapeutic management is to be carried out in highly experienced and specialized centers, to ensure the best results in the treatment of this really challenging endocrine disturbance.El síndrome de Cushing no es una entidad clínica excepcional, pese a su baja frecuencia. El creciente número de

  13. Congenital absence of the portal vein presenting as pulmonary hypertension

    International Nuclear Information System (INIS)

    Jun, Sur Young; Lee, Whal; Cheon, Jung Eun; Kim, Woo Sun; Kim, In One; Yeon, Kyung Mo

    2007-01-01

    Congenital absence of the portal vein (CAPV) is a rare malformation in which intestinal and splenic venous flow bypasses the liver and drains directly into the systemic circulation via a congenital portosystemic shunt. We describe two cases of CAPV presenting as pulmonary hypertension that were initially suspected as primary pulmonary hypertension. However, subsequent ultrasonography and CT detected the absence of a portal vein and the presence of a portosystemic shunt. Pulmonary hypertension is a recognized complication of liver disease and portal hypertension. However, these two cases illustrate that CAPV may result in pulmonary hypertension without liver disease or portal hypertension

  14. Congenital absence of the portal vein presenting as pulmonary hypertension

    Energy Technology Data Exchange (ETDEWEB)

    Jun, Sur Young; Lee, Whal; Cheon, Jung Eun; Kim, Woo Sun; Kim, In One; Yeon, Kyung Mo [Seoul National University Hospital, Seoul (Korea, Republic of)

    2007-11-15

    Congenital absence of the portal vein (CAPV) is a rare malformation in which intestinal and splenic venous flow bypasses the liver and drains directly into the systemic circulation via a congenital portosystemic shunt. We describe two cases of CAPV presenting as pulmonary hypertension that were initially suspected as primary pulmonary hypertension. However, subsequent ultrasonography and CT detected the absence of a portal vein and the presence of a portosystemic shunt. Pulmonary hypertension is a recognized complication of liver disease and portal hypertension. However, these two cases illustrate that CAPV may result in pulmonary hypertension without liver disease or portal hypertension.

  15. Congenital heat disease

    International Nuclear Information System (INIS)

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

    1990-01-01

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

  16. 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

  17. Congenital CMV Infection, An imaging perspective: A case report.

    Directory of Open Access Journals (Sweden)

    Dr. Nikunj Patel

    2017-12-01

    Full Text Available Brain imaging is most important tool for the accurate diagnosis of various congenital CNS infections. Infections of the foetal nervous system results in spectrum of findings that depends upon the inciting agent and the timing of infection. As a general rule earlier the infection, more severe are the findings. Congenital CMV infection can be diagnosed with accuracy with its specific features identified on brain imaging. We present a case of congenital CMV infection in an 8-months-old boy, its clinical presentation, imaging findings and laboratory reports. Specific literature review is included in order to point out major goals achieved in the diagnosis and prognosis of congenital CMV infection.

  18. Congenital cystic lung malformations

    International Nuclear Information System (INIS)

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

    2006-01-01

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

  19. Comorbid Conditions in Neonates With Congenital Heart Disease.

    Science.gov (United States)

    Krishnamurthy, Ganga; Ratner, Veniamin; Bacha, Emile; Aspelund, Gudrun

    2016-08-01

    The objectives of this review are to discuss the pathophysiology, clinical impact and treatment of major noncardiac anomalies, and prematurity in infants with congenital heart disease. MEDLINE and PubMed. Mortality risk is significantly higher in patients with congenital heart disease and associated anomalies compared with those in whom the heart defect occurs in isolation. Although most noncardiac structural anomalies do not require surgery in the neonatal period, several require surgery for survival. Management of such infants poses multiple challenges. Premature infants with congenital heart disease face challenges imposed by their immature organ systems, which are susceptible to injury or altered function by congenital heart disease and abnormal circulatory physiology independent of congenital heart disease. For optimal outcomes in premature infants or in infants with multiple congenital anomalies, a collaborative interdisciplinary approach is necessary.

  20. Congenital urethral polyps: a report of two cases

    International Nuclear Information System (INIS)

    Cano, D.; Vivas, I.; Torres, E.; Garcia, L.; Fernandez-Villa, T.

    1999-01-01

    Congenital urethral polyps are uncommon lesions, very few cases of which have been previously reported in the literature. We present two cases of congenital urethral polyps in children, describing the clinical and radiological features and the diagnostic method employed, as well as reviewing the literature. (Author) 6 refs

  1. Neurotized congenital melanocytic nevus resembling a pigmented neurofibroma

    Directory of Open Access Journals (Sweden)

    Nidhi Singh

    2015-01-01

    Full Text Available Neurotized congenital melanocytic nevus and pigmented neurofibroma (PNF are close mimics and pose a clinicopathological challenge. We present a case of pigmented hypertrichotic plaque over lumbosacral region and discuss the differential diagnosis and its clinical, histopathological and immunohistochemistry features which may aid in differentiation. We highlight the difficulties faced in differentiating neurotized congenital melanocytic nevus from pigmented neurofibroma.

  2. Lymphoscintigraphy in paediatric patients for suspected lymphoedema: normal variants, abnormal and syndromic patterns

    International Nuclear Information System (INIS)

    Pascual, T.; Howman-Giles, R.; Martin, H.

    2009-01-01

    Full text: Background: Lymphoscintigraphy (LS) is the diagnostic test of choice differentiating lymphoedema from other causes of extremity swelling. The LS patterns in normal and congenital lymphoedema in the paediatric population are not well defined. The impact of LS on clinical decision making is also not well reported. Aims: 1. define normal LS patterns in the pediatric population 2. describe types of abnormality (aplasia, hypoplasia, hyperplasia/dilated system) 3. describe LS patterns in syndromic lymphatic vascular disease 4. correlate LS with clinical impact on patient management. Methods: Retrospective review of all paediatric patients who had LS from July 1996-April 2008 was undertaken. Indications, sites of abnormality, LS patterns and clinical outcome were reviewed. Results: 118 patients (3mths-21yrs, mean 6 yrs) underwent LS. Normal LS patterns and variations were identified in 57 pts (48%). Sixty-one scans (52%) were abnormal showing lymph node aplasia (11%), hypoplasia (17%), mixed-pattern (8%), hyperplasia/dilated system (4%) and other patterns ie intestinal/pulmonary lymphangiectasia and vascual lymphatic malformations (11%). Patients with no signs of lymphoedema may still have aplasia or hypoplasia on LS. Dermal back flow is not always seen in lymphoedema. Management impact related to diagnosis and potential for development of lymphoedema in other limbs, differentiation of lymphoedema in patients with other vascular anomalies, stratification for lymphoedema therapy or referral to the dysmorphology clinic. Conclusion: LS is a valuable tool in the evaluation of lymphoedema in pediatric patients. Recognition of scan patterns in patients with suspected lymphoedema or lymphatic vascular diseases is essential as it plays a major role in the clinical management.

  3. Pediatric congenital vertebral artery arteriovenous malformation

    International Nuclear Information System (INIS)

    Shownkeen, Harish; Chenelle, Andrew G.; Origitano, Thomas C.; Bova, Davide

    2003-01-01

    Vertebral arteriovenous fistulas are rare in children and the congenital form has been seldom reported in the literature. Prior to using endovascular therapy techniques, only surgery was the main treatment. The most common endovascular treatment is through the use of detachable balloons. This report describes the clinical and radiological findings of a congenital vertebral artery fistula in a 20-month-old child. Balloons could not be safely employed; therefore, embolization was performed with Guglielmi detachable microcoils. We review the history and treatment of these lesions, their clinical presentation, and imaging features, including their outcome, with particular attention to the pediatric population. (orig.)

  4. Open-type congenital cholesteatoma: differential diagnosis for conductive hearing loss with a normal tympanic membrane.

    Science.gov (United States)

    Kim, Se-Hyung; Cho, Yang-Sun; Chu, Ho-Suk; Jang, Jeon-Yeob; Chung, Won-Ho; Hong, Sung Hwa

    2012-06-01

    In patients with progressive conductive hearing loss and a normal tympanic membrane (TM), and with soft tissue density in the middle ear cavity (MEC) on temporal bone computed tomography (TBCT) scan, open-type congenital cholesteatoma (OCC) should be highly suspected and a proper surgical plan that includes mastoid exploration and second-stage operation is required. The clinical presentation of OCC is very similar to congenital ossicular anomaly (COA) presenting with a conductive hearing loss with intact TM. Therefore, it is challenging to make a correct preoperative diagnosis in patients with OCC. We evaluated the clinical characteristics of OCC compared with those of COA to find diagnostic clues useful in diagnosis of OCC. The medical records of 12 patients with surgically proven OCC and 14 patients with surgically proven COA were reviewed for demographic data, otologic history, preoperative TBCT findings, intraoperative findings, and pre- and postoperative audiologic data. There was no difference between OCC and COA based on demographic data, preoperative hearing, and ossicular status on TBCT. However, the presence of progressive hearing loss, soft tissue density in the MEC on TBCT scan, and the need for mastoid surgery and second-stage operation were significantly more frequent in OCC patients.

  5. Endoscopic placement of ureteral stents for treatment of congenital bilateral ureteral stenosis in a dog.

    Science.gov (United States)

    Lam, Nathaniel K; Berent, Allyson C; Weisse, Chick W; Bryan, Christine; Mackin, Andrew J; Bagley, Demetrius H

    2012-04-15

    A 5-year-old 8.6-kg (18.9-lb) spayed female Pug was evaluated because of chronic hematuria and recurrent urinary tract infections. Excretory urography, ultrasonography, and excretory CT urography were performed. Results indicated that the dog had bilateral hydronephrosis and hydroureter and suspected proximal ureteral stenosis. Retrograde ureteropyelography confirmed the presence of stenosis at the ureteropelvic junction of each ureter, along with a large amount of endoluminal ureteral debris. Clinical findings suggested that the dog had a congenital bilateral anomaly of the upper urinary tract. The dog was anesthetized, and 2 double-pigtail ureteral stents were placed cystoscopically with fluoroscopic guidance for immediate relief of the ureteropelvic junction obstructions. Each stent extended from the left or right renal pelvis to the urinary bladder. The procedures and the patient's recovery from anesthesia were uncomplicated. Continuing improvements in severity of hydronephrosis, hydroureter, and dysuria were evident during routine follow-up examinations at 2, 4, 12, 16, and 45 weeks after stent placement. Over the subsequent 12 months, all clinical signs remained resolved other than a urinary tract infection that was successfully treated with antimicrobials. Ureteral stenosis should be considered as a differential diagnosis for hydronephrosis in dogs, particularly when urinary tract calculi or neoplasia is not present. Chronic hematuria and recurrent urinary tract infections can be associated with this condition. Placement of ureteral stents may be a successful treatment option for ameliorization of congenital ureteral obstructions.

  6. Congenital pelvic arteriovenous malformation: uncommon symptoms of lower limb venous hypertension.

    Science.gov (United States)

    Akimaro Kudo, F; Nishibe, T; Miyazaki, K; Flores, J; Yasuda, K

    2001-12-01

    Congenital pelvic arteriovenous malformations (AVMs) are rare and their clinical behavior is quite variable. A case of congenital pelvic AVM manifesting with unusual extrapelvic symptoms of ipsilateral leg pain is described. The causes of symptoms associated with congenital pelvic AVMs are discussed.

  7. Balloon-assisted enteroscopy for suspected Meckel’s diverticulum and indefinite diagnostic imaging workup

    Science.gov (United States)

    Gomes, Guilherme Francisco; Bonin, Eduardo Aimore; Noda, Rafael William; Cavazzola, Leandro Totti; Bartholomei, Thiago Ferreira

    2016-01-01

    Meckel’s diverticulum (MD) is estimated to affect 1%-2% of the general population, and it represents a clinically silent finding of a congenital anomaly in up to 85% of the cases. In adults, MD may cause symptoms, such as overt occult lower gastrointestinal bleeding. The diagnostic imaging workup includes computed tomography scan, magnetic resonance imaging enterography, technetium 99m scintigraphy (99mTc) using either labeled red blood cells or pertechnetate (known as the Meckel’s scan) and angiography. The preoperative detection rate of MD in adults is low, and many patients ultimately undergo exploratory laparoscopy. More recently, however, endoscopic identification of MD has been possible with the use of balloon-assisted enteroscopy via direct luminal access, which also provides visualization of the diverticular ostium. The aim of this study was to review the diagnosis by double-balloon enteroscopy of 4 adults with symptomatic MD but who had negative diagnostic imaging workups. These cases indicate that balloon-assisted enteroscopy is a valuable diagnostic method and should be considered in adult patients who have suspected MD and indefinite findings on diagnostic imaging workup, including negative Meckel’s scan. PMID:27803776

  8. Lymphangiosarcoma in a 3.5-year-old Bullmastiff bitch with vaginal prolapse, primary lymph node fibrosis and other congenital defects : clinical communication

    Directory of Open Access Journals (Sweden)

    J.H. Williams

    2005-06-01

    broad ligament and the ventral rectal serosa, and the 'prolapsed' tissue was found to be expanded vaginal wall. The bitch was euthanased and necropsied, Histological examination confirmed lymphangiosarcomatous invasion of the submucosal and muscular layers of the retroperitoneal, traumatised, prolapsed part of the vagina, the urethra and the ventral rectal wall. The broad ligament was diffusely invaded with tumour which had proliferated into the caudal abdominal space, and 3 small intra-trabecular foci of tumour were found in the right popliteal lymph node near the hilus. Mitotic figures were generally scarce. There was mild subcutaneous oedema of the ventral trunk extending from the axillae to the inner proximal thighs, which had not been evident clinically, and the lymph nodes (peripheral more so than internal microscopically showed marked trabecular and perivascular fibrosis especially in hilar regions. Other congenital defects were hepatic capsular and central venous fibrosis with lymphatic duplication and dilatation in all areas of connective tissue, ventrally-incongruous half-circular tracheal rings, and multifocal renal dysplasia affecting the right kidney. There was locally-extensive subacute pyelonephritis of the left kidney.

  9. Neuroimaging study of Fukuyama type congenital muscular dystrophy

    International Nuclear Information System (INIS)

    Murasugi, Hiroko

    1992-01-01

    Fukuyama type congenital muscular dystrophy (FCMD) has been attracting attention in recent years because of its brain malformation and progressive muscular dystrophy. The intravitam recognition of brain malformation has been remarkably enhanced by the advent of noninvasive neuroimaging techniques such as CT and MRI. In this study, 87 cranial CT scans and 22 MRIs of the brain, carried out on 60 patients with FCMD, were systematically surveyed, and the correlation between neuroradiological findings and clinical disabilities, and, in two autopsy cases, neuropathological findings was evaluated. Four cases of lissencephalic, 29 of pachygyric, and one of polymicrogyric (suspected) brain surface, and 2 normal brain surfaces were recognized. The patients with lissencephalic brain surface were compared using Dobyns' criteria. Grading of pachygyria was judged as bilateral II in 52% of cases and bilateral I in 48%. The surface of the occipital lobe could not be confirmed with either CT or MRI. Polymicrogyria was suspected using MRI but could not confirmed with CT. Five caces of lissencephaly had never learned any meaningful words and all but one were bedridden because of poor head control. The abilities of patients were better when the grading of pachygyria was milder. Mental disability and peak motor function correlate more closely with the degree and extent of brain malformation than with muscle degeneration. The decrease in radiodensity in the white matter was remarkable in 12 out of 19 cases (63%), and was usually bilaterally symmetrical. An increase in radiodensity in the white matter with age was observed in 3 patients. The rate of myelination was slower than normal in 3 out of the 6 cases. (author)

  10. Neuroimaging study of Fukuyama type congenital muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Murasugi, Hiroko (Tokyo Women' s Medical Coll. (Japan))

    1992-11-01

    Fukuyama type congenital muscular dystrophy (FCMD) has been attracting attention in recent years because of its brain malformation and progressive muscular dystrophy. The intravitam recognition of brain malformation has been remarkably enhanced by the advent of noninvasive neuroimaging techniques such as CT and MRI. In this study, 87 cranial CT scans and 22 MRIs of the brain, carried out on 60 patients with FCMD, were systematically surveyed, and the correlation between neuroradiological findings and clinical disabilities, and, in two autopsy cases, neuropathological findings was evaluated. Four cases of lissencephalic, 29 of pachygyric, and one of polymicrogyric (suspected) brain surface, and 2 normal brain surfaces were recognized. The patients with lissencephalic brain surface were compared using Dobyns' criteria. Grading of pachygyria was judged as bilateral II in 52% of cases and bilateral I in 48%. The surface of the occipital lobe could not be confirmed with either CT or MRI. Polymicrogyria was suspected using MRI but could not confirmed with CT. Five caces of lissencephaly had never learned any meaningful words and all but one were bedridden because of poor head control. The abilities of patients were better when the grading of pachygyria was milder. Mental disability and peak motor function correlate more closely with the degree and extent of brain malformation than with muscle degeneration. The decrease in radiodensity in the white matter was remarkable in 12 out of 19 cases (63%), and was usually bilaterally symmetrical. An increase in radiodensity in the white matter with age was observed in 3 patients. The rate of myelination was slower than normal in 3 out of the 6 cases. (author).

  11. 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...... is a rare condition in which web-like soft tissue traverses the sternum to connect the breasts medially. The literature on congenital symmastia is limited, few cases have been published, and knowledge about ideal treatment is still insufficient....

  12. Isolated bilateral congenital lacrimal gland agenesis – Report of two cases

    Directory of Open Access Journals (Sweden)

    Manar Alwohaib

    2017-10-01

    Full Text Available Congenital lacrimal gland agenesis, also called congenital alacrima, is a rare cause of dry eye and is characterized by aplasia or hypoplasia of lacrimal glands. We present two 5-year old children with congenital lacrimal gland agenesis. The two cases had the final diagnosis of isolated bilateral congenital lacrimal gland agenesis and we document the clinical aspects, treatment and present a literature review related to this rare condition. Keywords: Alacrima, Lacrimal gland, Lacrimal gland agenesis, Punctal plugs

  13. 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.

  14. Congenital nephrotic syndrome.

    Science.gov (United States)

    Hamed, Radi Ma

    2003-01-01

    The congenital nephrotic syndrome (CNS) is an uncommon disorder with onset of the nephrotic syndrome usually in the first three months of life. Several different diseases may cause the syndrome. These may be inherited, sporadic, acquired or part of a general malformation syndrome. The clinical course is marked by failure to thrive, recurrent life threatening bacterial infections, and early death from sepsis and/or uremia. A characteristic phenotype may be seen in children with CNS. The majority of reported cases of CNS are of the Finnish type (CNF). Although the role of the glomerular basement membrane has been emphasized as the barrier for retaining plasma proteins, recent studies have clearly shown that the slit diaphragm is the structure most likely to be the barrier in the glomerular capillary wall. The gene (NPHS1) was shown to encode a novel protein that was termed nephrin, due to its specific location in the kidney filter barrier, where it seems to form a highly organized filter structure. Nephrin is a transmembrane protein that probably forms the main building block of an isoporous zipper-like slit diaphragm filter structure. Defects in nephrin lead to the abnormal or absent slit diaphragm resulting in massive proteinuria and renal failure.

  15. A suspected case of Addison's disease in cattle.

    Science.gov (United States)

    Lambacher, Bianca; Wittek, Thomas

    2015-09-01

    A 4.75-year old Simmental cow was presented with symptoms of colic and ileus. The clinical signs and blood analysis resulted in the diagnosis of suspected primary hypoadrenocorticism (Addison's disease). Although Addison's disease has been frequently described in other domestic mammals, to our knowledge, this disease has not previously been reported in cattle.

  16. Pathologically confirmed autoimmune encephalitis in suspected Creutzfeldt-Jakob disease

    NARCIS (Netherlands)

    Maat, P.; de Beukelaar, J.W.; Jansen, C.; Schuur, M.; van Duijn, C.M.; van Coevorden, M.H.; de Graaff, E.; Titulaer, E.; Rozemuller, A.J.M.; Sillevis Smitt, P.

    2015-01-01

    Objective: To determine the clinical features and presence in CSF of antineuronal antibodies in patients with pathologically proven autoimmune encephalitis derived from a cohort of patients with suspected Creutzfeldt-Jakob disease (CJD). Methods: The Dutch Surveillance Centre for Prion Diseases

  17. Congenital Constriction Band Syndrome

    OpenAIRE

    Rajesh Gupta, Fareed Malik, Rishabh Gupta, M.A.Basit, Dara Singh

    2008-01-01

    Congenital constriction bands are anomalous bands that encircle a digit or an extremity. Congenitalconstriction band syndrome is rare condition and is mostly associated with other musculoskeletaldisorders.We report such a rare experience.

  18. Laboratory Diagnosis of Congenital Toxoplasmosis

    Science.gov (United States)

    Pomares, Christelle

    2016-01-01

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

  19. Congenital chylous ascites

    International Nuclear Information System (INIS)

    Romanska-Kita, J.; Borszewska-Kornacka, M. K.; Rudzinska, I.; Wawrzoniak, T.; Dobrzanska, A.; Czech-Kowalska, J.

    2011-01-01

    Congenital chylous ascites is a rare entity, conditioned by numerous factors and with changing dynamics of the disease. Because of the lack of therapeutic and diagnostic standards, this disease constitutes to be a medical challenge. This article presents current knowledge on pathogenesis, diagnostics and management of this disease, as well as a case of a newborn with primary congenital chylous ascites in the abdominal cavity. (authors)

  20. 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.

  1. Congenital tumors of the central nervous system

    Energy Technology Data Exchange (ETDEWEB)

    Severino, Mariasavina [G. Gaslini Children' s Hospital, Department of Neuroradiology, Genoa (Italy); Schwartz, Erin S. [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Thurnher, Majda M. [Medical University of Vienna, Department of Radiology, Vienna (Austria); Rydland, Jana [MR Center, St. Olav' s Hospital HF, Trondheim (Norway); Nikas, Ioannis [Agia Sophia Children' s Hospital, Imaging Department, Athens (Greece); Rossi, Andrea [G. Gaslini Children' s Hospital, Department of Neuroradiology, Genoa (Italy); G. Gaslini Children' s Hospital, Department of Pediatric Neuroradiology, Genoa (Italy)

    2010-06-15

    Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into ''definitely congenital'' (present or producing symptoms at birth), ''probably congenital'' (present or producing symptoms within the first week of life), and ''possibly congenital'' (present or producing symptoms within the first 6 months of life). They represent less than 2% of all childhood brain tumors. The clinical features of newborns include an enlarged head circumference, associated hydrocephalus, and asymmetric skull growth. At birth, a large head or a tense fontanel is the presenting sign in up to 85% of patients. Neurological symptoms as initial symptoms are comparatively rare. The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies. Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor. They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas. Less common histologies include craniopharyngiomas and ependymomas. There is a strong predilection for supratentorial locations, different from tumors of infants and children. Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia. The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor. However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors

  2. Congenital tumors of the central nervous system

    International Nuclear Information System (INIS)

    Severino, Mariasavina; Schwartz, Erin S.; Thurnher, Majda M.; Rydland, Jana; Nikas, Ioannis; Rossi, Andrea

    2010-01-01

    Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into ''definitely congenital'' (present or producing symptoms at birth), ''probably congenital'' (present or producing symptoms within the first week of life), and ''possibly congenital'' (present or producing symptoms within the first 6 months of life). They represent less than 2% of all childhood brain tumors. The clinical features of newborns include an enlarged head circumference, associated hydrocephalus, and asymmetric skull growth. At birth, a large head or a tense fontanel is the presenting sign in up to 85% of patients. Neurological symptoms as initial symptoms are comparatively rare. The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies. Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor. They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas. Less common histologies include craniopharyngiomas and ependymomas. There is a strong predilection for supratentorial locations, different from tumors of infants and children. Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia. The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor. However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors, where aggressive surgical treatment leads to disease

  3. Congenital heart disease in the dog

    International Nuclear Information System (INIS)

    Matic, S.E.

    1988-01-01

    The clinical findings and investigation of dogs with congenital cardiac disease is described and the role of diagnostic aids including radiography, electrocardiography and echocardiography is outlined. The physical findings, prognosis and therapy of the common defects are reviewed and their aetiology is briefly discussed

  4. Neonatal acute megakaryoblastic leukemia mimicking congenital neuroblastoma

    OpenAIRE

    Kawasaki, Yukako; Makimoto, Masami; Nomura, Keiko; Hoshino, Akihiro; Hamashima, Takeru; Hiwatari, Mitsuteru; Nakazawa, Atsuko; Takita, Junko; Yoshida, Taketoshi; Kanegane, Hirokazu

    2014-01-01

    Key Clinical Message We describe a neonate with abdominal distension, massive hepatomegaly, and high serum neuron-specific enolase level suggestive of congenital neuroblastoma. The patient died of pulmonary hemorrhage after therapy. Autopsy revealed that the tumor cells in the liver indicated acute megakaryocytic leukemia with the RBM15-MKL1 fusion gene.

  5. Congenital nephrotic syndrome. Gallium-67 imaging

    International Nuclear Information System (INIS)

    Trepashko, D.W.; Gelfand, M.J.; Pan, C.C.

    1988-01-01

    Congenital nephrotic syndrome is a rare disorder. Heavy proteinuria, hypoalbuminemia, and edema occur during the first 3 months of life. Initial cases were reported from Finland and sporadic cases have occurred elsewhere. Finnish cases demonstrated an autosomal recessive inheritance pattern; currently, Finnish and non-Finnish types are recognized. The clinical course consists of failure to thrive, frequent infections, declining renal function, and early death by age 4 years from sepsis or uremia. Recently renal transplantation has improved the prognosis of patients with this disease. An abnormal Ga-67 scan in a case of congenital nephrotic syndrome is presented

  6. Congenital generalized lipodystrophia: a case report

    International Nuclear Information System (INIS)

    Malheiros, N.R.; Marchiori, E.; Praxedes, M.C.; Machado, D.M.; Carvalho, A.A.V.

    1995-01-01

    Congenital generalized lipodystrophia is a rare genetic disorder, transmitted as an autosomal recessive trait and is prevalent on female. This paper presents a case of a man, 36-year-old, suffering from congenital generalized lipodystrophia with clinical features of diabetes mellitus and dyspnea. Radiographic findings have shown cystic areas in the skeleton, interstitial pulmonary fibrosis and paucity of abdominal fat. Radiological and anatomo-pathological aspects are presented as well as a review of the medical literature about the case. (author). 8 refs, 4 figs

  7. The role of MRI in suspected inner ear malformations

    International Nuclear Information System (INIS)

    Koesling, S.; Juettemann, S.; Amaya, B.; Rasinski, C.; Bloching, M.; Koenig, E.

    2003-01-01

    Purpose: This is a prospective analysis of the value of MRI in suspected inner ear malformations. Materials and Methods: In 50 patients (43 children and young adults, 7 adults) with suspected inner ear malformation MRI (1.5 T) was performed. In addition, 42 of these patients underwent CT. For the analysis of the inner ear structures, the constructive interference in steady state (CISS) sequence with 0.7 mm slice thickness was used. Functional tests revealed a sensorineural hearing loss or deafness in 82 temporal bones (TB) and a combined hearing loss in 4 TB. The hearing loss was unilateral in 14 patients. MRI and CT findings were compared. Results: Imaging findings were normal in 58 TB. The pathological findings included inner ear malformations (35 TB), inflammatory changes (4 TB), partial obliteration of labyrinth (2 TB) and congenital aural atresia (1 TB). An isolated absence of the cochlear nerve (1 TB) could only be found by MRI. In the remaining cases, an inner ear malformation was diagnosed by MRI and CT with the same confidence but MRI was superior in displaying the fine details. Conclusions: MRI will become the method of choice in the diagnosis of inner ear malformations. (orig.) [de

  8. Adrenomyeloneuropathy associated with congenital cataract

    International Nuclear Information System (INIS)

    Komori, Tetsuo; Nagashima, Toshiko; Hirose, Kazuhiko; Tanabe, Hitoshi; Tsubaki, Tadao

    1988-01-01

    Two cases of adrenomyeloneuropathy (AMN) in a family and the results of their MRI study are reported. Case 1, a 24-year-old male proband, was admitted to our hospital because of gait disturbance for three years. Bilateral cataracts were pointed out at birth, which required left side lenticotomy at age four. Neurological examinations on admission revealed a marked spastic paraparesis with pathological reflexes and a mild hypesthesia in the distal part of the left leg. No abnormal findings were detected in X-ray studies on the spine and spinal cord, electromyography and nerve conduction test. Serum very long chain fatty acids (VLCFAs) levels were apparently elevated, and the serum cortisol response to ACTH was low. Case 2, a 53-year-old woman, is the mother of Case 1 having a complaint of gait disturbance since age 51. She presented a mild spastic paraparesis with localized hypesthesia in the distal part of the both legs. She also had bilateral congenital cataracts. Her serum VLCFAs analysis indicated the intermediate levels between that of AMN and the normal control. Adrenal functions were normal. Cranial MRI (TR 2,000 msec/TE 80 msec) study disclosed high signal intensity areas in bilateral internal capsules in Case 1. These findings, suggesting the pathological change of dysmyelination, seemed to be well compatible with the clinical pictures. With these clinical findings and the laboratory data, these two cases were diagnosed as AMN. In addition, association of congenital cataract with AMN in both cases was characteristic in this family, which hasn't been reported in the literature. On regarding the genetic background of these two disorders, AMN and congenital cataract, it was speculated that each gene could be closely located on the same or very adjacent locus, possibly on Xq. (author)

  9. Spectrum of congenital heart diseases in children with Down ...

    African Journals Online (AJOL)

    CHD) frequently occur in children with Down syndrome. ... at the Pediatric cardiology clinic and had echocardiography diagnosis of congenital heart diseases. ... Browse By Country · List All Titles · Free To Read Titles This Journal is Open Access.

  10. [Congenital dislocation of the knee: report of 2 cases].

    Science.gov (United States)

    Ochoa Gómez, L; Sánchez Gimeno, J; García Barrecheguren, E; Marulanda Del Valle, K; Almonte Adón, K; Guerrero Laleona, C

    2015-01-01

    Congenital dislocation of the knee is a rare disease. The diagnosis is made at birth by clinical findings, and confirmed radiologically. It has been associated with various etiologies from intrauterine fetal malpositions to genetic disorders. The prognosis depends on early treatment and whether there are other congenital anomalies. We report two new cases of congenital dislocation of the knee, observed in our hospital during the period of a month, diagnosed immediately after birth, and both with a good clinical outcome. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  11. Congenital scoliosis: an up-to-date

    Science.gov (United States)

    Burnei, G; Gavriliu, S; Vlad, C; Georgescu, I; Ghita, RA; Dughilă, C; Japie, EM; Onilă, A

    2015-01-01

    Congenital scoliosis represents a spinal malformation due to defects of formation, segmentation or mixed ones. It is characterized by a longitudinal and rotational imbalance. 54 patients were analyzed and 39 out of them were operated by various approaches with anterior and posterior instrumentations during 2000 and 2012. The impossibility to appoint some patients encountered in the daily practice into the known classifications, allowed us to purpose two categories of congenital scoliosis related to the predominance of spinal deviances in the coronal and transversal views. No certain etiology of congenital scoliosis has been identified until today. The susceptibility of some polygenic defects is obvious due to the presence of a sum of defects associated to most of the congenital scoliosis cases and the rarity of the presence of a unique defect. The diagnosis requires a thorough clinical and imaging examination in order to establish an individualized therapeutic strategy. The treatment of congenital scoliosis is different from the adolescent idiopathic one. Therapeutic criteria are significantly different. It is essential to assess the difference in growth of the concavity related to the convexity when choosing a particular procedure. The magnitude of the curve and the progressive rate are fundamental issues to the surgeon PMID:26351546

  12. 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 congenital 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 congenital 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 congenital heart disease in clinical practice. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. Fever in pregnancy and the risk of congenital malformations

    DEFF Research Database (Denmark)

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

    2017-01-01

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

  14. The association of congenital neuroblastoma and congenital heart disease

    International Nuclear Information System (INIS)

    Bellah, R.; D'Andrea, A.; Children's Hospital, Boston, MA; Darillis, E.; Fellows, K.E.

    1989-01-01

    Several authors have reported an association between neuroblastoma and congenital heart disease; others contend that, unlike specific wellknown associations between malignancy and congenital defects (Wilm's tumor and aniridia, leukemia and Down's syndrome), no real relationship exists. We present three cases of cyanotic congenital heart disease in which subclinical neuroblastoma was found. We speculate that abnormal neural crest cell migration and development may be a common link between cardiac malformations and congenital neuroblastoma. (orig.)

  15. Prevalence of congenital amusia.

    Science.gov (United States)

    Peretz, Isabelle; Vuvan, Dominique T

    2017-05-01

    Congenital amusia (commonly known as tone deafness) is a lifelong musical disorder that affects 4% of the population according to a single estimate based on a single test from 1980. Here we present the first large-based measure of prevalence with a sample of 20 000 participants, which does not rely on self-referral. On the basis of three objective tests and a questionnaire, we show that (a) the prevalence of congenital amusia is only 1.5%, with slightly more females than males, unlike other developmental disorders where males often predominate; (b) self-disclosure is a reliable index of congenital amusia, which suggests that congenital amusia is hereditary, with 46% first-degree relatives similarly affected; (c) the deficit is not attenuated by musical training and (d) it emerges in relative isolation from other cognitive disorder, except for spatial orientation problems. Hence, we suggest that congenital amusia is likely to result from genetic variations that affect musical abilities specifically.

  16. Neuroimaging in CMV congenital infected neonates: how and when.

    Science.gov (United States)

    Lanari, M; Capretti, M G; Lazzarotto, T; Gabrielli, L; Rizzollo, S; Mostert, M; Manzoni, P

    2012-05-01

    Neonatal congenital infections are an important cause of mortality, morbidity and long-term neurodevelopmental and sensorineural sequelae. Many pathogens can cause in utero infection, and among them, cytomegalovirus (CMV) plays a prominent role. In developed countries, CMV poses major health problems as it is the most common pathogen leading to congenital infection, and the leading cause of nonhereditary deafness in children. Evaluation of central nervous system (CNS) involvement in congenital CMV infected newborns is mandatory to better assess the severity of the disease, to guide adequate treatment, to define prognosis, and to tailor follow-up observations and parents' counselling. Cerebral ultrasonography (cUS), Computed Tomography (CT), and Magnetic Resonance Imaging (MRI) are the currently available techniques to evaluate infants with suspected or proven congenital CMV infection. In congenital CMV infection, their role in early detection and confirmation of cerebral involvement within the first month of life is crucial to initiate specific treatment with antivirals. Neonatologists, paediatricians and radiologists should be aware of the role, the limitations and the inherent risks related to the use of these specific neuroimaging diagnostic tools in these infants. In this article we will discuss from a neonatological perspective the advantages, disadvantages, risks and limitations of each imaging technique. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  17. Left atrial isomerism associated with asplenia: prenatal echocardiographic detection of complex congenital cardiac malformations

    NARCIS (Netherlands)

    Stewart, P. A.; Becker, A. E.; Wladimiroff, J. W.; Essed, C. E.

    1984-01-01

    Complex congenital heart disease with suspected isomerism of the atria was diagnosed in two fetuses of 20 and 29 weeks' gestation using two-dimensional and M-mode scanning techniques. The first pregnancy was terminated at 21 weeks' gestation and stillbirth occurred at 31 weeks' gestation in the

  18. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft

    2001-01-01

    or fetuses with Down’s syndrome (patient controls), 23 (2.8%) pregnant women were treated with nitrofurantoin. The above differences between population controls and cases may be connected with recall bias, because the case-control pair analysis did not indicate a teratogenic potential of nitrofurantoin use......Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...... during the second and the third months of gestation, i.e. in the critical period for major congenital abnormalities. Conclusion: Treatment with nitrofurantoin during pregnancy does not present detectable teratogenic risk to the fetus....

  19. 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.

  20. 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.

  1. Congenital hearing impairment

    Energy Technology Data Exchange (ETDEWEB)

    Robson, Caroline D. [Children' s Hospital and Harvard Medical School, Division of Neuroradiology, Department of Radiology, Boston, MA (United States)

    2006-04-15

    Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

  2. Congenital spinal malformations

    International Nuclear Information System (INIS)

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

    2001-01-01

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

  3. Congenital hearing impairment

    International Nuclear Information System (INIS)

    Robson, Caroline D.

    2006-01-01

    Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

  4. 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.

  5. Congenital Heart Defects and CCHD

    Science.gov (United States)

    ... and more. Stony Point, NY 10980 Close X Home > Complications & Loss > Birth defects & other health conditions > Congenital heart defects and ... in congenital heart defects. You have a family history of congenital heart ... syndrome or VCF. After birth Your baby may be tested for CCHD as ...

  6. Guidelines for identifying suspect/counterfeit material

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1995-09-01

    These guidelines are intended to assist users of products in identifying: substandard, misrepresented, or fraudulently marked items. The guidelines provide information about such topics as: precautions, inspection and testing, dispositioning identified items, installed inspection and reporting suspect/counterfeit materials. These guidelines apply to users who are developing procurement documents, product acceptance/verification methods, company procedures, work instructions, etc. The intent of these SM guidelines in relation to the Quality Assurance Program Description (QAPD) and implementing company Management Control Procedures is not to substitute or replace existing requirements, as defined in either the QAPD or company implementing instructions (Management Control Procedures). Instead, the guidelines are intended to provide a consolidated source of information addressing the issue of Suspect/Counterfeit materials. These guidelines provide an extensive suspect component listing and suspect indications listing. Users can quickly check their suspect items against the list of manufacturers products (i.e., type, LD. number, and nameplate information) by consulting either of these listings.

  7. Surgery for congenital choanal atresia.

    Science.gov (United States)

    Cedin, Antonio C; Atallah, Alvaro N; Andriolo, Régis B; Cruz, Oswaldo L; Pignatari, Shirley N

    2012-02-15

    Congenital choanal atresia is a rare abnormality characterized by unilateral or bilateral lack of patency of the posterior end of the nasal cavity. With an incidence of 1:5000 to 1:8000 births, it is twice as prevalent in females as it is in males. Surgical procedures aim to provide adequate functional choanal patency and a low rate of restenosis, avoid harm to any structure in development, enable shorter surgery and hospitalization times, and minimize morbidity and mortality. To evaluate the effectiveness and safety of the available surgical techniques for the treatment of congenital choanal atresia in patients with unilateral and bilateral atresia. We searched the Cochrane Ear, Nose and Throat Disorders Group Trials Register; the Cochrane Central Register of Controlled Trials (CENTRAL); PubMed; EMBASE; CINAHL; Web of Science; BIOSIS Previews; Cambridge Scientific Abstracts; ISRCTN and additional sources for published and unpublished trials. The date of the search was 31 January 2011. We planned to include parallel randomized or quasi-randomized controlled trials testing surgical approaches for the treatment of congenital atresia (irrespective of gender and age) that evaluated normal/adequate respiratory function (self reported or preserved nasal airway) and restenosis as the main primary outcomes. We did not consider reoperation and non-congenital atresia (e.g. traumatic, iatrogenic atresias) for inclusion. Three review authors independently assessed the titles and abstracts of the identified articles to determine potential relevance. For dichotomous and continuous variables, we planned to calculate risk ratios (relative risks; RR) and mean differences (MD) with 95% confidence intervals (CI), respectively. We planned to use the random-effects model since we were expecting substantial clinical and methodological heterogeneity. No randomized controlled trials were identified. From the 120 reports retrieved using our search strategy, 46 primary studies had the

  8. Spinal cord magnetic resonance imaging in suspected multiple sclerosis

    International Nuclear Information System (INIS)

    Lycklama a Nijeholt, G.J.; Bergers, E.; Castelijns, J.A.; Barkhof, F.; Uitdehaag, B.M.J.; Polman, C.H.

    2000-01-01

    We examined the value of spinal cord magnetic resonance imaging (MRI) in the diagnostic work-up of multiple sclerosis (MS). Forty patients suspected of having MS were examined within 24 months after the start of symptoms. Disability was assessed, and symptoms were categorized as either brain or spinal cord. Work-up further included cerebrospinal fluid analysis and standard proton-density, T2-, and T1-weighted gadolinium-enhanced brain and spinal cord MRI. Patients were categorized as either clinically definite MS (n = 13), laboratory-supported definite MS (n = 14), or clinically probable MS (n = 4); four patients had clinically probable MS, and in nine MS was suspected. Spinal cord abnormalities were found in 35 of 40 patients (87.5 %), consisting of focal lesions in 31, only diffuse abnormalities in two, and both in two. Asymptomatic spinal cord lesions occurred in six patients. All patients with diffuse spinal cord abnormality had clear spinal cord symptoms and a primary progressive disease course. In clinically definite MS, the inclusion of spinal imaging increased the sensitivity of MRI to 100 %. Seven patients without a definite diagnosis had clinically isolated syndromes involving the spinal cord. Brain MRI was inconclusive, while all had focal spinal cord lesions which explained symptoms and ruled out other causes. Two other patients had atypical brain abnormalities suggesting ischemic/vascular disease. No spinal cord abnormalities were found, and during follow-up MS was ruled out. Spinal cord abnormalities are common in suspected MS, and may occur asymptomatic. Although diagnostic classification is seldom changed, spinal cord imaging increases diagnostic sensitivity of MRI in patients with suspected MS. In addition, patients with primary progressive MS may possibly be earlier diagnosed. Finally, differentiation with atypical lesions may be improved. (orig.)

  9. Prenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in Auvergne.

    Science.gov (United States)

    Debost-Legrand, Anne; Goumy, Carole; Laurichesse-Delmas, Hélène; Déchelotte, Pierre; Beaufrère, Anne-Marie; Lémery, Didier; Francannet, Christine; Gallot, Denis

    2013-12-01

    Wolf-Hirschhorn syndrome (WHS) is associated with facial dysmorphism including high forehead, high nasal bridge, hypertelorism and severe mental retardation. WHS results from a 4p16.3 deletion. Only a small number of reports have been made on the prenatal ultrasound findings observed in WHS. Here we report our experience on 10 cases of WHS ascertained prenatally between 1983 and 2009 through the CEMC-Auvergne registry of congenital malformations. The assumption that a "Greek warrior helmet" facies is pathognomonic of WHS could lead to misdiagnosis. Other clinical findings such as severe and early onset intrauterine growth retardation, facial dysmorphism (high forehead, high nasal bridge, low-set ears, micrognathia, hypertelorism), atrial or ventricular septal defect, and renal dysplasia should help obstetricians to suspect the diagnosis of WHS prenatally. Copyright © 2013 Wiley Periodicals, Inc.

  10. Caracterización clínica y epidemiológica de las cardiopatías congénitas Clinical and epidemiological characterization of congenital heart diseases

    Directory of Open Access Journals (Sweden)

    Yanett Sarmiento Portal

    2013-04-01

    Full Text Available Introducción: las cardiopatías congénitas constituyen un grupo heterogéneo de defectos morfofuncionales del corazón y los vasos sanguíneos. Objetivo: caracterizar los factores clínicos y epidemiológicos asociados a las cardiopatías congénitas. Material y Método: se realizó un estudio observacional, analítico, tipo caso-control en el servicio de Neonatología del Hospital "Abel Santamaría", años 2010-11. El universo lo constituyeron los 11 138 nacidos vivos en dicho período. La muestra se dividió en Grupo Estudio: 70 niños con diagnóstico de CC en el período neonatal y Grupo Control: 140 recién nacidos a término, nacidos consecutivos a los del estudio, tomando dos controles por cada caso. Se utilizó el test de Ji Cuadrado con nivel de significación pIntroduction: congenital heart diseases constitute a heterogeneous group of heart morpho-functional and blood vessels defects. Objective: to characterize clinical and epidemiological factors associated with congenital heart diseases. Material and method: an observational, analytical, case-control type study was carried out in neonatology service at "Abel Santamaria Cuadrado" University Hospital during 2010-2011. The target group was comprised of 11 138 newborn infants in such period. The sample was divided into: Study Group (70 newborn infants having the diagnosis of congenital heart disease in the neonatal period and a Control Group: 140 at term newborn infants, born consecutively of those included into the Study Group, taking two controls per each case. Chi-square test with a level of significance p<0.05 and the odd ratio were used to determine the strength of association among the variables. Results: the incidence of heart diseases during the period was 6,3 per 1000 alive newborn infants. Maternal ages between 20 and 34 years old prevailed, where anaemia was the most prevailing disease found in the study group (17,1%, which was a risk factor. Toxic habits were present in 58

  11. Congenital IGF1 deficiency tends to confer protection against post-natal development of malignancies.

    Science.gov (United States)

    Steuerman, Rachel; Shevah, Orit; Laron, Zvi

    2011-04-01

    To investigate whether congenital IGF1 deficiency confers protection against development of malignancies, by comparing the prevalence of malignancies in patients with congenital (secondary) deficiency of IGF1 with the prevalence of cancer in their family members. Only patients with an ascertained diagnosis of either Laron syndrome (LS), congenital IGHD, congenital multiple pituitary hormone deficiency (cMPHD) including GH or GHRHR defect were included in this study. In addition to our own patients, we performed a worldwide survey and collected data on a total of 538 patients, 752 of their first-degree family members, of which 274 were siblings and 131 were further family members. We found that none of the 230 LS patients developed cancer and that only 1 out of 116 patients with congenital IGHD, also suffering from xeroderma pigmentosum, had a malignancy. Out of 79 patients with GHRHR defects and out of 113 patients with congenital MPHD, we found three patients with cancer in each group. Among the first-degree family members (most heterozygotes) of LS, IGHD and MPHD, we found 30 cases of cancer and 1 suspected. In addition, 31 malignancies were reported among 131 further relatives. Our findings bear heavily on the relationship between GH/IGF1 and cancer. Homozygous patients with congenital IGF1 deficiency and insensitivity to GH such as LS seem protected from future cancer development, even if treated by IGF1. Patients with congenital IGHD also seem protected.

  12. Congenital club foot in a teaching hospital in Lagos, Nigeria.

    Science.gov (United States)

    Adewole, O A; Giwa, S O; Kayode, M O; Shoga, M O; Balogun, R A

    2009-06-01

    Congenital club foot has been sparsely reported in literature in Nigeria, although it has been reported as the commonest congenital musculoskeletal abnormality. This study enumerates the point prevalence of this disease in a university teaching hospital in Lagos. Better understanding of the epidemiology in our community should improve awareness, and influence management. Between June 2005 and July 2006, 72 consecutive patients with congenital club feet were seen in the orthopaedic clinic of our Hospital. Demographic data, birth weight, family history, birth facility, maternal age and associated congenital anomalies were recorded and analysed using Statistical Programme for Social Sciences (SPSS) version 15. A total of 72 patients were seen, 28 of whom had bilateral club feet resulting in a total of 100 feet. There were 38 males and 34 females. Only 29% presented in the first month of life and 28% in the second month. Maternal ages ranged between 19 and 38 years and no family history of congenital club foot was given,. Babies delivered outside the orthodox medical system (churches, traditional healers, home etc) constituted 28%. The commonest associated congenital anomalies were tibia hemimelia, hydrocephalus, inguinal hernia and umbilical hernia. A default rate of 28% was observed during treatment. Congenital club foot may not be uncommon in Nigeria. Late presentation and high default rate before correction of the deformity were observed. Establishment of special club foot clinics should reduce the default rate. Training of healthcare workers in maternity units as well as Public awareness should encourage early referral to specialists.

  13. Clinical impact of left ventricular eccentricity index using cardiac MRI in assessment of right ventricular hemodynamics and myocardial fibrosis in congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Yamasaki, Yuzo; Kamitani, Takeshi; Yamanouchi, Torahiko; Honda, Hiroshi [Kyushu University, Departments of Clinical Radiology, Graduate School of Medical Sciences, Fukuoka (Japan); Nagao, Michinobu; Kawanami, Satoshi [Kyushu University, Molecular Imaging and Diagnosis, Graduate School of Medical Sciences, Fukuoka (Japan); Yamamura, Kenichiro [Kyushu University, Pediatrics, Graduate School of Medical Sciences, Fukuoka (Japan); Sakamoto, Ichiro [Kyushu University, Cardiovascular Medicine, Graduate School of Medical Sciences, Fukuoka (Japan); Yabuuchi, Hidetake [Kyushu University, Health SciencesGraduate School of Medical Sciences, Fukuoka (Japan)

    2016-10-15

    To investigate the utility of eccentricity index (EI) using cardiac cine MRI for the assessment of right ventricular (RV) hemodynamics in congenital heart disease (CHD). Fifty-five patients with CHD (32 women; mean age, 40.7 ± 20.9 years) underwent both cardiac MRI and right heart catheterization. EI was defined as the ratio of the distance between the anterior-posterior wall and the septal-lateral wall measured in the short-axis of mid-ventricular cine MRI. Correlations between EIs and RV hemodynamic parameters were analyzed. EIs were compared between patients with and without late gadolinium enhancement (LGE). A strong correlation between mean pulmonary artery pressure (PAP) and systolic EI (r = 0.81, p < 0.0001) and a moderate negative correlation between diastolic EI and RV ejection fraction (EF) (r = -0.62, p < 0.0001) were observed. Receiver operating characteristic analysis revealed optimal EI thresholds for detecting patients with mean PAP ≥40 mmHg with C-statistics of 0.90 and patients with RVEF <40 % with C-statistics of 0.78. Systolic EIs were significantly greater for patients with LGE (1.45 ± 0.05) than for those without LGE (1.15 ± 0.07; p < 0.001). EI offers a simple, comprehensive index that can predict pulmonary hypertension and RV dysfunction in CHD. (orig.)

  14. 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)....

  15. Giant Congenital Melanocytic Nevus

    DEFF Research Database (Denmark)

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

    2015-01-01

    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...

  16. Congenital neck masses.

    Science.gov (United States)

    Rosa, Peter A; Hirsch, David L; Dierks, Eric J

    2008-08-01

    Congenital neck lesions reflect abnormal embryogenesis in head and neck development. A thorough knowledge of embryology and anatomy is critical in the diagnosis and treatment of these lesions. The appropriate diagnosis of these lesions is necessary to provide appropriate treatment and long-term follow up, because some of these lesions may undergo malignant transformation or be harbingers of malignant disease.

  17. Congenital cystic eyeball

    Directory of Open Access Journals (Sweden)

    Gupta V

    1990-01-01

    Full Text Available A rare case of histopathologically proved case of congenital cystic eye in a one day old girl is described. It was an unusually large cystic mass bulging forwards stretching the upperlid. There was no rudimentary eyeball in the orbit. The cystic eye′s predilection for the left eye has been pointed out for the first time in this article.

  18. Congenital extracranial meningioma

    International Nuclear Information System (INIS)

    Wong, H.F.; Ng, S.H.; Wai, Y.Y.; Wan, Y.L.; Kong, M.S.

    1995-01-01

    The authors report a case of congenital meningioma in a newborn. This tumour is extremely rare and only six cases have been reported in the literature. Those reported cases were mainly intracranial. This is the first case of a neonatal extracranial meningioma that was evaluated preoperatively by computed tomography and magnetic resonance imaging. (orig.)

  19. 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.”

  20. 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...

  1. Congenital intracerebral teratoma: a rare differential diagnosis in newborn hydrocephalus

    International Nuclear Information System (INIS)

    Storr, U.; Rupprecht, T.; Bornemann, A.; Ries, M.; Beinder, E.; Boewing, B.; Harms, D.

    1997-01-01

    Cogenital hydrocephalus is caused by a broad spectrum of underlying disorders. In the majority of cases it is due to aqueductal stenosis and other distinct congenital anomalies, like Arnold-Chiari malformation. Nevertheless, in the differential diagnosis rare conditions such as cerebral malignancies must also be considered. We present two cases of congenital intracerebral teratoma as a differential diagnosis in congenital obstructive hydrocephalus. A teratoma is suggested when a rapidly growing hydrocephalus with a central calcified and vascularized mass is found sonographically. Regular cerebral structures using cannot be detected. Early diagnosis in such cases is of clinical importance as the prognosis of congential intracerebral teratoma is generally very poor. (orig.)

  2. Congenital intracerebral teratoma: a rare differential diagnosis in newborn hydrocephalus

    Energy Technology Data Exchange (ETDEWEB)

    Storr, U. [Landratsamt Neuburg-Schrobenhausen, Gesundheitsamt, Neuburg an der Donau (Germany)]|[Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany); Rupprecht, T. [Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany); Bornemann, A. [Inst. for General Pathology, Erlangen-Nuernberg Univ., Nuernberg (Germany); Ries, M. [Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany); Beinder, E. [Dept. of Obstetrics and Gynecology, Erlangen-Nuernberg Univ., Nuernberg (Germany); Boewing, B. [Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany); Harms, D. [Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany)

    1997-03-01

    Cogenital hydrocephalus is caused by a broad spectrum of underlying disorders. In the majority of cases it is due to aqueductal stenosis and other distinct congenital anomalies, like Arnold-Chiari malformation. Nevertheless, in the differential diagnosis rare conditions such as cerebral malignancies must also be considered. We present two cases of congenital intracerebral teratoma as a differential diagnosis in congenital obstructive hydrocephalus. A teratoma is suggested when a rapidly growing hydrocephalus with a central calcified and vascularized mass is found sonographically. Regular cerebral structures using cannot be detected. Early diagnosis in such cases is of clinical importance as the prognosis of congential intracerebral teratoma is generally very poor. (orig.)

  3. Magnetic resonance imaging and clinical findings in a miniature Schnauzer with hypodipsic hypernatremia

    International Nuclear Information System (INIS)

    Shimokawa Miyama, Takako; Iwamoto, Emiko; Umeki, Saori; Nakaichi, Munekazu; Okuda, Masaru; Mizuno, Takuya

    2009-01-01

    A 6-month-old miniature Schnauzer presented with hypernatremia and clinical signs of vomiting, diarrhea, inappetence, and lethargy. The dog did not consume water on its own. Hypernatremia and the related clinical signs were resolved by fluid administration. Endocrinological investigations and urinalysis excluded the possibility of diabetes insipidus and hyperaldosteronism. Therefore, the dog was diagnosed with hypodipsic hypernatremia. Magnetic resonance imaging revealed dysgenesis of the corpus callosum and other forebrain structures. On the basis of these findings, congenital brain malformation associated with failure of the osmoreceptor system was suspected. (author)

  4. Magnetic resonance imaging and clinical findings in a miniature Schnauzer with hypodipsic hypernatremia.

    Science.gov (United States)

    Shimokawa Miyama, Takako; Iwamoto, Emiko; Umeki, Saori; Nakaichi, Munekazu; Okuda, Masaru; Mizuno, Takuya

    2009-10-01

    A 6-month-old miniature Schnauzer presented with hypernatremia and clinical signs of vomiting, diarrhea, inappetence, and lethargy. The dog did not consume water on its own. Hypernatremia and the related clinical signs were resolved by fluid administration. Endocrinological investigations and urinalysis excluded the possibility of diabetes insipidus and hyperaldosteronism. Therefore, the dog was diagnosed with hypodipsic hypernatremia. Magnetic resonance imaging revealed dysgenesis of the corpus callosum and other forebrain structures. On the basis of these findings, congenital brain malformation associated with failure of the osmoreceptor system was suspected.

  5. Changing Landscape of Congenital Heart Disease.

    Science.gov (United States)

    Bouma, Berto J; Mulder, Barbara J M

    2017-03-17

    Congenital heart disease is the most frequently occurring congenital disorder affecting ≈0.8% of live births. Thanks to great efforts and technical improvements, including the development of cardiopulmonary bypass in the 1950s, large-scale repair in these patients became possible, with subsequent dramatic reduction in morbidity and mortality. The ongoing search for progress and the growing understanding of the cardiovascular system and its pathophysiology refined all aspects of care for these patients. As a consequence, survival further increased over the past decades, and a new group of patients, those who survived congenital heart disease into adulthood, emerged. However, a large range of complications raised at the horizon as arrhythmias, endocarditis, pulmonary hypertension, and heart failure, and the need for additional treatment became clear. Technical solutions were sought in perfection and creation of new surgical techniques by developing catheter-based interventions, with elimination of open heart surgery and new electronic devices enabling, for example, multisite pacing and implantation of internal cardiac defibrillators to prevent sudden death. Over time, many pharmaceutical studies were conducted, changing clinical treatment slowly toward evidence-based care, although results were often limited by low numbers and clinical heterogeneity. More attention has been given to secondary issues like sports participation, pregnancy, work, and social-related difficulties. The relevance of these issues was already recognized in the 1970s when the need for specialized centers with multidisciplinary teams was proclaimed. Finally, research has become incorporated in care. Results of intervention studies and registries increased the knowledge on epidemiology of adults with congenital heart disease and their complications during life, and at the end, several guidelines became easily accessible, guiding physicians to deliver care appropriately. Over the past decades

  6. Does this adult patient with suspected bacteremia require blood cultures?

    Science.gov (United States)

    Coburn, Bryan; Morris, Andrew M; Tomlinson, George; Detsky, Allan S

    2012-08-01

    Clinicians order blood cultures liberally among patients in whom bacteremia is suspected, though a small proportion of blood cultures yield true-positive results. Ordering blood cultures inappropriately may be both wasteful and harmful. To review the accuracy of easily obtained clinical and laboratory findings to inform the decision to obtain blood cultures in suspected bacteremia. A MEDLINE and EMBASE search (inception to April 2012) yielded 35 studies that met inclusion criteria for evaluating the accuracy of clinical variables for bacteremia in adult immunocompetent patients, representing 4566 bacteremia and 25,946 negative blood culture episodes. Data were extracted to determine the prevalence and likelihood ratios (LRs) of findings for bacteremia. The pretest probability of bacteremia varies depending on the clinical context, from low (eg, cellulitis: 2%) to high (eg, septic shock: 69%). Elevated temperatures alone do not accurately predict bacteremia (for ≥38°C [>100.3°F], LR, 1.9 [95% CI, 1.4-2.4]; for ≥38.5°C [>101.2°F], LR, 1.4 [95% CI, 1.1-2.0]), nor does isolated leukocytosis (LR, cultures should not be ordered for adult patients with isolated fever or leukocytosis without considering the pretest probability. SIRS and the decision rule may be helpful in identifying patients who do not need blood cultures. These conclusions do not apply to immunocompromised patients or when endocarditis is suspected.

  7. Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor: clinical evaluation and molecular characterization of a novel mutation.

    Directory of Open Access Journals (Sweden)

    Frédéric Brioude

    Full Text Available CONTEXT: KISS1R mutations have been reported in few patients with normosmic congenital hypogonadotropic hypogonadism (nCHH (OMIM #146110. OBJECTIVE: To describe in detail nCHH patients with biallelic KISS1R mutations belonging to 2 unrelated families, and to functionally characterize a novel KISS1R mutation. RESULTS: An original mutant, p.Tyr313His, was found in the homozygous state in 3 affected kindred (2 females and 1 male from a consanguineous Portuguese family. This mutation, located in the seventh transmembrane domain, affects a highly conserved amino acid, perturbs the conformation of the transmembrane segment, and impairs MAP kinase signaling and intracellular calcium release. In the second family, a French Caucasian male patient with nCHH was found to carry two recurrent mutations in the compound heterozygous state (p.Leu102Pro/Stop399Arg. In this man, pulsatile GnRH (Gonadotropin Releasing Hormone administration restored pulsatile LH (Luteinizing Hormone secretion and testicular hormone secretion. Later, long-term combined gonadotropin therapy induced spermatogenesis, enabling 3 successive pregnancies that resulted in 2 miscarriages and the birth of a healthy boy. CONCLUSION: We show that a novel loss-of-function mutation (p.Tyr313His in the KISS1R gene can cause familial nCHH, revealing the crucial role of this amino acid in KISS1R function. The observed restoration of gonadotropin secretion by exogenous GnRH administration further supports, in humans, the hypothalamic origin of the gonadotropin deficiency in this genetic form of nCHH.

  8. [Congenital mucocele of the ventral face of the tongue].

    Science.gov (United States)

    Nohuz, E; Gallot, D; Rousset, C; Brunel, A; Albaut, M; Bayeh, S; Vendittelli, F; Laurichesse-Delmas, H; Lemery, D

    2016-03-01

    Congenital cystic lesions of the oral cavity are an extremely rare occurrence. Their prenatal diagnosis is essential since they can impede respiratory and swallowing functions. We describe a case that was detected prenatally and discuss its management. A 21-year-old primigravida patient who was 23 weeks pregnant was referred to our obstetrics and gynecology center after fetal ultrasonography showed a cystic lesion of the oral cavity. She had no family history of any congenital anomalies. Ultrasonography showed a male fetus with an anechoic mass measuring 21×11 mm encompassing the entire oral cavity, evoking either a mucocele or a cystic hygroma. Magnetic resonance imaging (MRI) showed a fetus with a wide-open mouth, due to a well-demarcated protruding cystic mass with no solid component, suggestive of a mucocele. A prenatal sonographically guided percutaneous needle aspiration of mucous fluid was performed at 33 gestational weeks. Although the mucocele decreased significantly in size, it nevertheless continued to expand progressively. After an uncomplicated pregnancy, the patient had spontaneous onset of labor at 39 weeks of gestation. An iterative aspiration was performed in the same manner in utero, resulting in a complete collapse of the mucocele. If needed, intubation could be considered. A 3030-g male was born by vaginal delivery, without respiratory distress. Clinical examination showed the extremely opened mouth and confirmed the presence of a large cystic mass approximately 4 cm in diameter, of sublingual origin and encompassing the entire oral cavity. The continuous protrusion of the tongue was responsible for the infant's inability to close the mouth and be breastfed. After insertion of a feeding tube, the newborn had maxillofacial surgery consisting in marsupialization of the cyst at 2 days of age. The mucocele decreased in size and the postoperative course was uneventful. No recurrence was observed at 6 months' follow-up. Congenital mucoceles of the

  9. High frequency of congenital thrombophilia in women with pathological pregnancies?

    DEFF Research Database (Denmark)

    Rasmussen, Ase; Ravn, Pernille

    2004-01-01

    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...... 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...

  10. [Management of a suspect bite].

    Science.gov (United States)

    Benelmouffok, A; Belkaid, M; Benhassine, M

    Ignorance of the indications or unsuitable treatment are the most common causes of mistakes in the vaccinal or serovaccinal treatment of rabies. The physiological, clinical and epidemiological bases are brought to mind and a simple management scheme is suggested taking into account the W.H.O. recommendations.

  11. Multiplex PCR for the detection of BCL-1/IGH and BCL-2/IGH gene rearrangements--clinical validation in a prospective study of blood and bone marrow in 258 patients with or suspected of non-Hodgkin's lymphoma

    DEFF Research Database (Denmark)

    Nyvold, Charlotte G; Bendix, Knud; Brandsborg, Margrethe

    2007-01-01

    prospectively been evaluated. Eleven patients (4%) were found t(11;14)+ and 37 patients (14%) t(14;18)+. Comparing these results to standard diagnostic methods of PB and/or BM identified PCR+ samples that were normal by morphology (BCL-1/IGH: 1/11; BCL-2/IGH: 17/37). Equally important, patients who were......We have designed a multiplex PCR, which allows for fast and high throughput demonstration of the BCL-1/IGH and BCL-2/IGH fusion DNA observed primarily in mantle cell- and follicular non-Hodgkin's lymphoma (NHL). Blood (PB) and/or bone marrow (BM) from 258 patients suspected of NHL have...... not clonal in PB and/or BM by flow cytometry were identified as PCR+ (BCL-1/IGH: 3/11; BCL-2/IGH: 23/37). We conclude that this multiplex approach allows for easy and sensitive molecular determination of molecular lesions in NHL, which have diagnostic and prognostic importance. Udgivelsesdato: 2007-null...

  12. Congenital deformity of the distal extremities in three dogs | Di Dona ...

    African Journals Online (AJOL)

    Congenital limb deformities are very rare conditions and the knowledge about etiology, pathogenesis, clinical presentation and treatment is still poor. Moreover, many defects are still not reported in veterinary literature. This report documents clinical and radiographic findings in three dogs with congenital deformity involving ...

  13. Congenital rubella syndrome in Haiti

    Directory of Open Access Journals (Sweden)

    Golden Nancy

    2002-01-01

    Full Text Available Objective. To determine if there is an unrecognized problem of congenital rubella syndrome (CRS in Haiti, a country without a national rubella immunization program. Methods. During March 2001 and June 2001, screening physicals were conducted on approximately 80 orphans at three orphanages in Haiti that accept disabled children. Children were classified as probable CRS cases based on established clinical criteria. Photo documentation of findings was obtained whenever possible. Results. Six children met the criteria for probable CRS. Using data from surrounding Caribbean countries and from the United States of America prior to rubella immunization, we estimated that there are between 163 and 440 new cases of CRS per year in Haiti. Conclusions. CRS exists in Haiti, but its presence is generally unrecognized. A national rubella immunization policy should be considered.

  14. Congenital rubella syndrome in Haiti

    Directory of Open Access Journals (Sweden)

    Nancy Golden

    2002-10-01

    Full Text Available Objective. To determine if there is an unrecognized problem of congenital rubella syndrome (CRS in Haiti, a country without a national rubella immunization program. Methods. During March 2001 and June 2001, screening physicals were conducted on approximately 80 orphans at three orphanages in Haiti that accept disabled children. Children were classified as probable CRS cases based on established clinical criteria. Photo documentation of findings was obtained whenever possible. Results. Six children met the criteria for probable CRS. Using data from surrounding Caribbean countries and from the United States of America prior to rubella immunization, we estimated that there are between 163 and 440 new cases of CRS per year in Haiti. Conclusions. CRS exists in Haiti, but its presence is generally unrecognized. A national rubella immunization policy should be considered.

  15. Suspected synthetic cannabinoid toxicosis in a dog.

    Science.gov (United States)

    Williams, Keysa; Wells, Raegan J; McLean, Mary Kay

    2015-01-01

    To describe the effects of suspected synthetic cannabinoid (SC) toxicosis and the response to intravenous lipid emulsion (ILE) therapy in a dog. A 2-year-8-month-old male Boxer dog was evaluated at an emergency hospital for progressive ataxia and inappropriate mentation. The initial physical examination identified marked hypothermia (32.7°C [90.9°F]), intermittent sinus bradycardia (60/min), stuporous mentation with intermittent aggression, and severe ataxia. Neurologic status deteriorated to comatose mentation within 2 hours of presentation. The initial diagnostic evaluation (eg, CBC, serum biochemistry profile, venous blood gas, and electrolyte determination) revealed a respiratory acidosis and thrombocytopenia. The owner reported that the dog was exposed to an SC containing Damiana leaf, Marshmallow leaf, and Athaea leaves. Initial treatment included IV fluids and supplemental oxygen. Mechanical ventilation was provided due to hypoventilation and periods of apnea. Intravenous lipid emulsion therapy was administered as a bolus (1.5 mL/kg) and continued as a continuous rate infusion (0.5 mL/kg/h) for a total of 6 hours. The dog became rousable and was weaned from mechanical ventilation approximately 15 hours following presentation. The dog was eating and walking with no ataxia, had a normal mentation at approximately 33 hours following presentation, and was discharged home at that time. Communication with the owners 5 days following discharge revealed that the dog was apparently normal. Based on this case and other reports in the literature regarding human exposures, SC ingestion may result in more severe clinical signs than marijuana ingestion in dogs. Significant clinical intervention may be necessary. Intravenous lipid emulsion treatment may be beneficial due to the lipophilicity of SC. © Veterinary Emergency and Critical Care Society 2015.

  16. Congenital lumbar vertebrae agenesis in a lamb.

    Science.gov (United States)

    Farajli Abbasi, Mohammad; Shojaei, Bahador; Azari, Omid

    2017-01-01

    Congenital agenesis of lumbar vertebrae was diagnosed in a day-old female lamb based on radiology and clinical examinations. There was no neurological deficit in hindlimb and forelimb associated with standing disability. Radiography of the abdominal region revealed absence of lumbar vertebrae. Necropsy confirmed clinical and radiographic results. No other anomaly or agenesis was seen macroscopically in the abdominal and thoracic regions as well as vertebral column. Partial absence of vertebral column has been reported in human and different animal species, as an independent occurrence or associated with other organs anomalies. The latter has been designated as caudal regression syndrome. Vertebral agenesis may arise from irregularity in the differentiation of somites to the sclerotome or sclerotome to the vertebral primordium. Most of the previously reported cases of agenesis were related to the lumbosacral region, lonely or along with other visceral absences. This case was the first report of congenital agenesis of lumbar vertebrae in a lamb.

  17. Isolated and syndromic forms of congenital anosmia

    DEFF Research Database (Denmark)

    Karstensen, H G; Tommerup, N

    2012-01-01

    . Despite a strong degree of heritability, no human disease-causing mutations have been identified. Anosmia is part of the clinical spectrum in various diseases, as seen in Kallmann syndrome, various ciliopathies and congenital insensitivity to pain. This review will focus on ICA through already published......Loss of smell (anosmia) is common in the general population and the frequency increases with age. A much smaller group have no memory of ever being able to smell and are classified as having isolated congenital anosmia (ICA). Families are rare, and tend to present in a dominant inheritance pattern...... families and cases as well as syndromes where anosmia is part of the clinical disease spectrum. Furthermore, olfactory signal transduction pathway genes and animal models may shed light on potential candidate genes and pathways involved in ICA....

  18. Handbook for Response to Suspect Radioactive Materials

    International Nuclear Information System (INIS)

    Cliff, William C.; Pappas, Richard A.; Arthur, Richard J.

    2005-01-01

    This document provides response actions to be performed following the initial port, airport, or border crossing discovery of material that is suspected of being radioactive. The purpose of this guide is to provide actions appropriate for handling radioactive material

  19. Congenital pseudarthrosis of clavicle, differential diagnosis pathology

    International Nuclear Information System (INIS)

    Vergara A, Enrique; Villamarin, Fernando; Pina Q, Marcela

    2006-01-01

    The congenital pseudarthrosis of clavicle is a rare entity, frequently appearing without association to other pathologies and does not cause important limitations in the children. It can confuse with other traumatic pathologies like clavicle fracture. Most of the patients complain about the aesthetics and few times for pain. The treatment is generally surgical there is controversy about of carrying out surgery. We reported two clinical cases with pseudoarthrosis of the right clavicle that they received surgical treatment with satisfactory results.

  20. Congenital Heart Defects and Coronary Anatomy

    OpenAIRE

    Mawson, John B.

    2002-01-01

    Coronary artery anomalies are a well recognized feature of many cardiac malformations and have been catalogued in a number of reviews. This overview concentrates on 1) the interplay between congenital heart defects and coronary morphogenesis, examining how some of the embryology fits with the experiments of nature encountered in clinical practice; and 2) the influence of coronary anatomy on patient management. This overview uses, as examples, pulmonary atresia with intact ventricular septum, ...

  1. Congenital long QT syndrome in children

    Directory of Open Access Journals (Sweden)

    Cerović Ivana

    2016-01-01

    Full Text Available Long QT syndrome (LQTS is a cardiac repolarization disorder characterized by prolonged QT interval on the electrocardiogram (ECG and increased propensity to ventricular tachyarrhythmias and cardiac events. LQTS might be acquired or congenital, which presents a group of channelopathies that occur due to mutation in one of 15 so far identified genes. The most frequent types of congenital LTQS are LQT1, LQT2 and LQT3. Prolonged or delayed repolarization leads to the increase of action potential duration which predisposes early afterdepolarization, as well as the amplification of transmural dispersion of repolarization, both contributing to the development of Torsades de Pointes ventricular tachycardia. Clinical manifestations of LQTS are palpitations, syncope, aborted cardiac arrest or sudden cardiac death, but it can also be asymptomatic. Trigger factors for symptoms are specific for certain genotype. LQTS examination includes thorough clinical and family history focused on distinctive data (repeated syncopes, cases of sudden cardiac death in the family, hereditary arrhythmias, resting ECG, exercise stress testing and genetic analysis, with additional methods (serial ECG records, 24h ECG Holter, epinephrine test. Clinical LQTS diagnosis is based on Schwartz's scoring system, while the criteria for final diagnosis of LQTS depend on Schwartz's score, QT interval duration, presence of pathogenic mutation and clinical symptoms. Treatment approach begins with lifestyle modifications and β-blockers therapy, while other options include implantable cardioverter- defibrillator, permanent pacemaker or surgical sympathectomy. Sudden cardiac death is the reason of 90% of sudden deaths in young athletes, while LQTS is one of its causes. Recommendations for physical activities in children with congenital LQTS arise from the ones for adults and they presume very strict limitations. Further researches are expected to advance the understanding of genotype

  2. 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......: The Regional Committee on Health Research Ethics of the Capital Region of Denmark H-2-2013-066 and ClinicalTrials.gov H2-2013-066....

  3. Congenital cystic adenomatoid lung malformation of newborn

    International Nuclear Information System (INIS)

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

    1980-01-01

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

  4. Causes of congenital unilateral pulmonary hypoplasia

    International Nuclear Information System (INIS)

    Currarino, G.; Williams, B.; Children's Medical Center, Dallas, TX

    1985-01-01

    A review of the roentgenograms and clinical records of 33 children with primary congenital underdevelopment of one lung showed that 9 patients had simple pulmonary hypoplasia, 8 had anomalous venous return to the right atrium or the inferior vena cava (scimitar syndrome), 7 had an absence of ipsilateral pulmonary artery, 7 had an accessory diaphragm, and 2 had a pulmonary sequestration adjacent to a small diaphragmatic hernia. (orig.)

  5. Ultrasonographi assessment of congenital adrenal masses

    International Nuclear Information System (INIS)

    Muro Velilla, D.; Sanguesa, C.; Alberto, C.; Lopez, A., Benlloch, C.

    1996-01-01

    The demonstrate the utility of ultrasound (US) in the initial assessment and follow-up of newborns with adrenal masses. A series of 21 newborns presenting adrenal mass studied on the basis of US findings, clinical assessment and biochemical data. Seven patients had congenital neuroblastoma, two had a benign tumor and twelve presented adrenal hemorrhage. Postnatal US study of the course of these patients is essential for the differential diagnosis of their lesions when not diagnosed prenatally. (Author) 20 refs

  6. Congenital malformations of the skull and meninges.

    Science.gov (United States)

    Kanev, Paul M

    2007-02-01

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

  7. 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.)

  8. Congenital Hepatic Cyst

    Directory of Open Access Journals (Sweden)

    Aldo Recinos

    2017-04-01

    Full Text Available Congenital hepatic cyst is a rare and nonsymptomatic condition in infants and children. Its incidence is 2.5% in the postnatal life with a much lower incidence in the prenatal period. Incidental finding on antenatal imaging is the most common presentation. We present a case of a newborn in whom fetal ultrasound detected a cyst within the fetal liver. Postnatal imaging revealed a liver cyst in the right lobe of the liver, with no other intrahepatic structure affected. Liver function tests were abnormal, but the patient was asymptomatic. Posterior follow-up imaging showed a minor decrease in size. Management of congenital hepatic cyst is usually conservative, done with periodic ultrasound monitoring. However, surgical treatment is the mainstay of treatment when hydrops, progressive enlargement, hemorrhage, torsion, or compression of adjacent structures occurs. Malignant transformation can occur, but it is extremely rare. Partial or total removal of the cyst is the preferred treatment in neonates with a large lesion.

  9. Congenital diaphramatic hernia