Results 111 to 120 of about 2,667,700 (378)

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source

Pediatric Chest Pain: A Review of Diagnostic Tools in the Pediatric Emergency Department

Diagnostics
Pediatric chest pain is a common chief complaint in the emergency department. Not surprisingly, children with chest pain are usually brought to the emergency department by their parents out of fear of heart disease.
Szu-Wei Huang, Ying-Kuo Liu
doaj   +1 more source

Criteria of the German Society of Cardiology for the establishment of chest pain units: update 2014

Clinical Research in Cardiology, 2015
Since 2008, the German Cardiac Society (DGK) has been establishing a network of certified chest pain units (CPUs). The goal of CPUs was and is to carry out differential diagnostics of acute or newly occurring chest pain of undetermined origin in a rapid ...
F. Post, T. Gori, E. Giannitsis, H. Darius, S. Baldus, C. Hamm, R. Hambrecht, Hans Martin Hofmeister, H. Katus, S. Perings, J. Senges, T. Münzel   +11 more
semanticscholar   +1 more source

An unusual timing for symptomatic chest pain in an adult chest wall myofibroma: a case report [PDF]

, 2014
INTRODUCTION: Myofibromas are benign mesenchymal neoplasms that can present as solitary and multicentric lesions. They can occur in several locations and can occur at any age from neonates to elderly patients.
Chin-Li Chen, Hung Chang
core   +2 more sources

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Diagnostic values of chest pain history, ECG, troponin and clinical gestalt in patients with chest pain and potential acute coronary syndrome assessed in the emergency department

SpringerPlus, 2015
In the assessment of chest pain patients with suspected acute coronary syndrome (ACS) in the emergency department (ED), physicians rely on global diagnostic impressions (‘gestalt’).
A. Mokhtari, Eric Dryver, Martin Söderholm, U. Ekelund   +3 more
semanticscholar   +1 more source

Differences in delivery of prehospital ambulance care comparing non-white versus white patients with suspected cardiac chest pain: cross-sectional study [PDF]

, 2014
Introduction Quality implies equitable care irrespective of ethnicity. There have been few previous studies investigating quality of prehospital cardiac care by ethnicity.
,, Asghar, Zahid, Phung, Viet-Hai, Siriwardena, A. Niroshan, Windle, Karen   +4 more
core  

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

Performance of different dynamic oxygenation indices incorporating heart rate to predict non-invasive ventilation outcomes in hypoxemic respiratory failure

The Egyptian Journal of Bronchology
Background Non-invasive ventilation (NIV) becomes crucial ventilatory support for respiratory failure patients, but wasting time in high-risk patients for suspected NIV failure and delayed intubation with invasive mechanical ventilation (IMV) is also ...
Omnia Mohamed Mamdouh, Ashraf El Sayed Ahmed, Ahmed Zidan Abuzeid Hashem, Hadeer Ahmed Elshahaat   +3 more
doaj   +1 more source

Retrospective study of atypical presentation in cases diagnosed as acute myocardial infarction [PDF]

, 2015
Introduction: AMI presentation is consider fundamental part for diagnosis as a history of chest pain usually lead the ED physicians to think about it or at least he/she is considered as one of differential diagnosis from all life threatening conditions
Elkandow, Ali Elhaj Mohammed
core