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https://www.readbyqxmd.com/read/28822372/midgut-volvulus-in-adults-with-congenital-intestinal-malrotation
#1
Kayla Smith, Patricia Martinez-Quinones, Michael Hawkins
No abstract text is available yet for this article.
August 1, 2017: American Surgeon
https://www.readbyqxmd.com/read/28821302/participation-of-adults-with-disorders-differences-of-sex-development-dsd-in-the-clinical-study-dsd-life-design-methodology-recruitment-data-quality-and-study-population
#2
Robert Röhle, Katharina Gehrmann, Maria Szarras-Czapnik, Hedi Claahsen-van der Grinten, Catherine Pienkowski, Claire Bouvattier, Peggy Cohen-Kettenis, Anna Nordenström, Ute Thyen, Birgit Köhler
BACKGROUND: dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired gonadal or adrenal functionality. METHODS/DESIGN: The study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health aspects as major outcomes. Health status and functioning, medical and surgical therapies, participants' views on health care, psychological and social support, sociodemographic factors and their interrelations will be investigated as factors associated with the outcomes...
August 18, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28820896/a-strategy-for-scaling-up-access-to-comprehensive-care-in-adults-with-chagas-disease-in-endemic-countries-the-bolivian-chagas-platform
#3
Maria-Jesus Pinazo, Jimy Pinto, Lourdes Ortiz, Jareth Sánchez, Wilson García, Ruth Saravia, Mirko-R Cortez, Silvia Moriana, Enric Grau, Daniel Lozano, Joaquim Gascon, Faustino Torrico
BACKGROUND: Bolivia has the highest prevalence of Chagas disease (CD) in the world (6.1%), with more than 607,186 people with Trypanosoma cruzi infection, most of them adults. In Bolivia CD has been declared a national priority. In 2009, the Chagas National Program (ChNP) had neither a protocol nor a clear directive for diagnosis and treatment of adults. Although programs had been implemented for congenital transmission and for acute cases, adults remained uncovered. Moreover, health professionals were not aware of treatment recommendations aimed at this population, and research on CD was limited; it was difficult to increase awareness of the disease, understand the challenges it presented, and adapt strategies to cope with it...
August 18, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28820061/renin-angiotensin-system-and-cytokines-in-chronic-kidney-disease-clinical-and-experimental-evidence
#4
Ariadna Andrade Saldanha Silva, Beranardo Bahia Finotti, Amanda Oliveira Lauar, Thiago Ruiz Rodrigues Prestes, Ana Cristina Simões E Silva
Chronic kidney disease (CKD) has become a major public health problem in Brazil and worldwide. There are many causes of CKD, being the congenital anomalies of the kidney and urinary tract and the glomerular diseases very common in pediatric patients, while diabetic nephropathy, CKD due to chronic arterial hypertension and glomerular diseases are predominant in adult patients. Many endogenous mediators have been related to the pathophysiology of CKD, being relevant the effects of the renin-angiotensin system (RAS) and the immune-inflammatory mediators including cytokines...
August 18, 2017: Protein and Peptide Letters
https://www.readbyqxmd.com/read/28819577/the-role-of-laparoscopy-in-the-management-of-a-diagnostic-dilemma-jejunal-ectopic-pancreas-developing-into-jejunojejunal-intussusception
#5
Alessio Giordano, Giovanni Alemanno, Carlo Bergamini, Paolo Prosperi, Alessandro Bruscino, Andrea Valeri
Ectopic pancreas (EP) is a rare congenital anomaly defined as the presence of pancreatic tissue in topographic anomaly. It is usually silent but it may become clinically evident when complicated by acute conditions. The development of laparoscopic surgery has changed the way to manage such conditions, especially in the setting of emergency surgery, thanks to its diagnostic and therapeutic role with excellent results. We decided to perform an emergency diagnostic exploratory laparoscopy in a 29-year-old man with an acute abdomen and nonspecific radiological images for intestinal occlusion...
2017: Case Reports in Surgery
https://www.readbyqxmd.com/read/28818479/a-structured-assessment-of-motor-function-behavior-and-communication-in-patients-with-wolf-hirschhorn-syndrome
#6
Heidi E Nag, David K Bergsaker, Bente S Hunn, Susanne Schmidt, Lise B Hoxmark
The present study aimed to increase the knowledge about Wolf-Hirschhorn syndrome (WHS), especially concerning motor function, autism spectrum disorders (ASD), and adapted behavior, but also regarding clinical symptoms in general. Motor function was evaluated via systematic observation. Standardized assessments such as the Vineland Adapted Behavior Scales II (VABS II), the Social Communication Questionnaire (SCQ), and the Child Behavior Checklist (CBCL) or Adult Behavior Checklist (ABCL) were used for the behavioral assessment...
August 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28818352/longitudinal-sequential-biventricular-assessment-in-adults-with-transposition-of-the-great-arteries-and-relationship-with-adverse-outcomes
#7
M Riahi, A Claman, M Kiess, M Orgad, D Human, S Chakrabarti, J Leipsic, J Grewal
BACKGROUND: In a cohort of congenitally corrected transposition of the great arteries (cc-TGA) and transposition of the great arteries after atrial switch procedure (d-TGA) the study objectives were: 1) to assess the change of quantitative systemic right ventricle (sRV) parameters over time and; 2) to examine the relationship of quantitative sRV parameters with adverse clinical outcomes. METHODS AND RESULTS: Single-center cohort study that included 49 (39%) cc-TGA and 76 (61%) d-TGA patients >18years who had at least one MUGA sRV assessment, 18/39 had more than one respectively...
August 5, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28817981/the-use-of-flexible-intramedullary-nails-in-limb-lengthening
#8
Arnold Popkov, Patrick Foster, Alexander Gubin, Dmitry Borzunov, Dmitry Popkov
Lower and upper limb length discrepancy and deformity, congenital or acquired, are amongst the most common conditions in children for orthopaedic referral. Over the last twenty years, surgical techniques have evolved in an attempt to decrease Healing Index and minimise these complications. Areas covered: The flexible intramedullary nailing (FIN) is a minimally invasive intramedullary osteosynthesis. In combination with an external fixator, it is appropriated for pediatric bone lengthenings and lengthening of bones of small diameter in adults...
August 18, 2017: Expert Review of Medical Devices
https://www.readbyqxmd.com/read/28817389/congenital-anomalies-of-the-optic-disc-insights-from-optical-coherence-tomography-imaging
#9
Karen W Jeng-Miller, Dean M Cestari, Eric D Gaier
PURPOSE OF REVIEW: Congenital anomalies of the optic nerve are rare but significant causes of visual dysfunction in children and adults. Accurate diagnosis is dependent on a thorough funduscopic examination, but can be enhanced by imaging information garnered from optical coherence tomography (OCT). We review common congenital optic nerve anomalies, including optic disc pit, optic nerve coloboma, morning glory disc anomaly, and hypoplasia of the optic nerve, review their systemic associations, and discuss insights from OCT imaging...
August 16, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28816297/-perirenal-cystic-lymphangioma-in-an-adult-a-case-report-and-literature-review
#10
W He, Y C Hao, H Z Xia, R Z Ma, B Yang, J Lu
Lymphangioma is a rare, benign mesenchymal neoplasm, which is characterized by numerous intercommunicating cystic spaces containing lymphatic fluid. It is considered a congenital disease resulting from the obstruction of regional lymph drainage during the developmental period. Lymphangioma frequently occurs in the cervical neck and axilla, also in the retroperitoneum, mediastinum, mesentery, omentum, colon, and pelvis, rarely in the perirenal space. These tumors usually present in childhood, but infrequently, these also present in adults...
August 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28811814/apert-syndrome-report-of-a-rare-congenital-malformation
#11
Ehsan Rathore, Altaf Hussain Rathore
A rare case of an adult male with malformation of the skull, face, hands and feet called acrocephalosyndactly or Apert syndrome is presented. Its probable cause, features and treatment is discussed. It is a unique case who survived upto the age of 32 years without any operative intervention and adjusted in the society though he has all the stigmas of the above syndrome. We have concluded and made a point that in the adult sufferer, facial deformity is not so important and urgent for the treatment than syndactyly, which handicaps the sufferer in performing the daily routine work...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28811286/acute-arrhythmias-in-adults-with-congenital-heart-disease
#12
Christopher J McLeod
No abstract text is available yet for this article.
September 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28810265/viral-retinopathy-in-experimental-models-of-zika-infection
#13
Zhenyang Zhao, Matthew Yang, Sasha R Azar, Lynn Soong, Scott C Weaver, Jiaren Sun, Yan Chen, Shannan L Rossi, Jiyang Cai
Purpose: Emerging evidence has shown that both congenital and adult Zika virus (ZIKV) infection can cause eye diseases. The goals of the current study were to explore mechanisms and pathophysiology of ZIKV-induced eye defects. Methods: Wild-type or A129 interferon type I receptor-deficient mice were infected by either FSS13025 or Mex1-7 strain of ZIKV. Retinal histopathology was measured at different time points after infection. The presence of viral RNA and protein in the retina was determined by in situ hybridization and immunofluorescence staining, respectively...
August 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28807509/-18-f-fdg-pet-ct-angiography-in-the-diagnosis-of-infective-endocarditis-and-cardiac-device-infection-in-adult-patients-with-congenital-heart-disease-and-prosthetic-material
#14
María N Pizzi, L Dos-Subirà, Albert Roque, Nuria Fernández-Hidalgo, Hug Cuéllar-Calabria, Antonia Pijuan Domènech, María T Gonzàlez-Alujas, M T Subirana-Domènech, B Miranda-Barrio, Ignacio Ferreira-González, Juan J González-López, Albert Igual, Olga Maisterra-Santos, David García-Dorado, Joan Castell-Conesa, Benito Almirante, Manuel Escobar Amores, Pilar Tornos, Santiago Aguadé-Bruix
OBJECTIVES: Infective endocarditis (IE) and cardiac device infection (CDI) are a major complication in the growing number of patients with congenital heart disease (CHD) reaching adulthood. We aimed to evaluate the added value of (18)F-FDG-PET/CT angiography (PET/CTA) in the diagnosis of IE-CDI in adults with CHD and intravascular or intracardiac prosthetic material, in whom echocardiography (ECHO) and modified Duke Criteria (DC) have limitations because of the patients' complex anatomy...
August 9, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28806996/improved-passive-catheter-tracking-with-positive-contrast-for-cmr-guided-cardiac-catheterization-using-partial-saturation-psat
#15
Mari Nieves Velasco Forte, Kuberan Pushparajah, Tobias Schaeffter, Israel Valverde Perez, Kawal Rhode, Bram Ruijsink, Mazen Alhrishy, Nicholas Byrne, Amedeo Chiribiri, Tevfik Ismail, Tarique Hussain, Reza Razavi, Sébastien Roujol
BACKGROUND: Cardiac catheterization is a common procedure in patients with congenital heart disease (CHD). Although cardiovascular magnetic resonance imaging (CMR) represents a promising alternative approach to fluoroscopy guidance, simultaneous high contrast visualization of catheter, soft tissue and the blood pool remains challenging. In this study, a novel passive tracking technique is proposed for enhanced positive contrast visualization of gadolinium-filled balloon catheters using partial saturation (pSAT) magnetization preparation...
August 15, 2017: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/28805480/current-evidence-on-the-use-of-anti-raas-agents-in-congenital-or-acquired-solitary-kidney
#16
Mariadelina Simeoni, Annarita Armeni, Chiara Summaria, Annamaria Cerantonio, Giorgio Fuiano
RATIONAL: The inhibition of renin-angiotensin-aldosterone system (RAAS) is a major strategy for slowing the progression of chronic kidney disease (CKD). The utility of anti-RAAS agents in patients with congenital or acquired solitary kidney is still controversial. OBJECTIVE: A systematic literature review was conducted. MAIN FINDINGS: The conclusions of the few available studies on the topic are homogeneously in agreement with a long-term reno-protective activity of anti-RAAS drugs in patients with solitary kidney, especially if patients are hypertensive or proteinuric...
November 2017: Renal Failure
https://www.readbyqxmd.com/read/28803841/coronary-artery-embolism-from-a-blood-cyst-of-the-mitral-valve
#17
Nejc Pavsic, Zvezdana Dolenc-Strazar, Andreja Cerne Cercek, Tomislav Klokocovnik, Katja Prokselj
Blood cysts are benign, congenital tumours of the heart endothelium, found most commonly on heart valves. Adult cases are rare, since most spontaneously regress with age. However, reports of symptomatic cases with embolic phenomena and valve dysfunction have been described. We present a case of a previously healthy 44-year-old woman with no cardiovascular risk factors who developed acute myocardial infarction caused by coronary artery embolism from a blood cyst of the anterior mitral valve leaflet.
July 19, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28802508/prognostic-significance-of-left-ventricular-fibrosis-in-patients-with-congenital-bicuspid-aortic-valve
#18
Gentian Lluri, Pierangelo Renella, J Paul Finn, Gabriel Vorobiof, Jamil Aboulhosn, Arjun Deb
This study sought to evaluate the prognostic value of left ventricular (LV) fibrosis assessed by late gadolinium enhancement (LGE) of the myocardium during cardiac magnetic resonance (CMR) imaging in patients with bicuspid aortic valve (BAV), which is associated with early aortic valve fibrosis and calcification. To what degree the LV myocardial wall is affected by fibrosis and its prognostic value is currently unknown. This is a retrospective, single-center study evaluating all adult patients with BAV who had CMR and followed from March 2002 to March 2016...
July 14, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28799527/recent-advances-in-technique-and-clinical-outcomes-of-minimally-invasive-spine-surgery-in-adult-scoliosis
#19
REVIEW
Gang Liu, Sen Liu, Yu-Zhi Zuo, Qi-Yi Li, Zhi-Hong Wu, Nan Wu, Ke-Yi Yu, Gui-Xing Qiu
OBJECTIVE: Conventional open spinal surgery of adult scoliosis can be performed from anterior, posterior, or combined approach. Minimally invasive spine surgery (MISS) was developed for the purpose of reducing the undesirable effects and complications. This review aimed to make a brief summary of recent studies of the approach and clinical outcomes of MISS in adult scoliosis. DATA SOURCES: We conducted a systematic search from PubMed, Medline, EMBASE, and other literature databases to collect reports of surgical methods and clinical outcomes of MISS in treatment of adult scoliosis...
August 9, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28796982/-causes-of-death-in-children-and-adolescents-aged-1-19-in-poland-in-the-light-of-international-statistics-since-2000
#20
Joanna Mazur, Marta Malinowska-Cieślik, Anna Oblacińska
BACKGROUND: Analyses of children and young people mortality continue to be an important component of health monitoring of this population. Such analyses provide the basis to assess the overall trends, the structure of the causes of death over longer periods, and the differences between Poland and other countries. PURPOSE: The purpose of the current study is to present the current status and the direction of changes since 2000 with regard to the level and underlying causes of mortality in children and adolescents aged 1-19 years in Poland on the background of statistics for leading European countries...
2017: Developmental Period Medicine
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