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Department of Clinical Haematology, Royal Manchester Children's Hospital, Manchester, UK Department of Genetic Medicine, St Mary's Hospital, Manchester, UK Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacolo
This article was published in the following journal.
Name: British journal of haematology
Rosai-Dorfman disease is a rare systemic proliferative disorder of histiocytes, which mainly manifests as lymphadenopathy but also often involves extranodal tissues. Rosai-Dorfman disease was often se...
We report the case of a patient with a long-standing history of extranodal, sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) and no evidence of original cutaneous involvement a...
Scimitar syndrome is a rare congenital disorder which is associated with right lung developmental abnormalities, mainly hypoplastic right lung. We present the case of a neonate with a retrocardiac lun...
Dextrocardia, or right-lying heart, is an uncommon congenital heart disease in which the apex of the heart is located on the right side of chest. Persistent left superior vena cava (PLSVA) is a rare v...
Nutcracker syndrome is rarely seen in the young. Most of the symptoms regress during follow-up. Rarely surgical intervention is necessary. This case presentation is unique for its being the first case...
The research project aims to try to answer the many questions raised by the identification of new early repolarization syndrome. The questions are varied with both taking optimal clinical ...
This study assessed the efficacy and safety of generic imatinib in patients with chronic myeloid leukemia (CML) in Jordan. It was a multicenter, non-interventional, open-label, prospective...
Primary Objective: -To assess the change in glycosylated hemoglobin (HbA1c) in uncontrolled Type 2 diabetes patients on OAD agent in Jordan after 6 months of treatment with basal insulin ...
This study will investigate Ebstein's anomaly, a congenital abnormality of the tricuspid valve of the heart and try to identify the genetic origins of the disease. Adults and children 2 y...
The objective of this study is to determine the safety and feasibility of autologous mononuclear cells (MNS) collected from bone marrow (BM) and using an add-on intramyocardial delivery fo...
A supernumerary rib developing from an abnormal enlargement of the costal element of the C7 vertebra. This anomaly is found in 1-2% of the population and can put pressure on adjacent structures causing CERVICAL RIB SYNDROME; THORACIC OUTLET SYNDROME; or other conditions.
Interposition of a portion of the colon (e.g., SIGMOID COLON) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition.
A congenital coronary vessel anomaly in which the left main CORONARY ARTERY originates from the PULMONARY ARTERY instead of from AORTA. The congenital heart defect typically results in coronary artery FISTULA; LEFT-SIDED HEART FAILURE and MITRAL VALVE INSUFFICIENCY during the first months of life.
Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...