Search
Now showing items 1-10 of 55
Eular/Pres Endorsed Consensus Criteria For The Classification Of Childhood Vasculitides
(B M J Publishing Group, 2006)
Background: There has been a lack of appropriate classification criteria for vasculitis in children. Objective: To develop a widely accepted general classification for the vasculitides observed in children and specific and ...
Ahi1 Mutations Cause Both Retinal Dystrophy and Renal Cystic Disease in Joubert Syndrome
(B M J Publishing Group, 2006)
Background: Joubert syndrome (JS) is an autosomal recessive disorder characterised by hypotonia, ataxia, mental retardation, altered respiratory pattern, abnormal eye movements, and a brain malformation known as the molar ...
Evidence From Autoimmune Thyroiditis Of Skewed X-Chromosome Inactivation In Female Predisposition To Autoimmunity
(Nature Publishing Group, 2006)
The etiologic factors in the development of autoimmune thyroid diseases (AITDs) are not fully understood. We investigated the role of skewed X-chromosome inactivation (XCI) mosaicism in female predisposition to AITDs. One ...
Histological Response To Injected Gluteraldehyde Cross-Linked Bovine Collagen Based Implant In A Rat Model
(2006)
Background The aim of present study is to investigate the short and long term histopathological alterations caused by submucosal injection of gluteraldehyde cross-linked bovine collagen based on an experimental rat model. ...
Cardiac and Pulmonary Investigations in Bethlem Myopathy
(Amer Medical Assoc, 2006)
Background: Bethlem myopathy is considered a relatively mild neuromuscular disorder without significant cardiac and respiratory involvement. Objective: To investigate cardiac and respiratory involvement in Bethlem myopathy. ...
Escobar Syndrome Is A Prenatal Myasthenia Caused By Disruption Of The Acetylcholine Receptor Fetal Gamma Subunit
(Univ Chicago Press, 2006)
Escobar syndrome is a form of arthrogryposis multiplex congenita and features joint contractures, pterygia, and respiratory distress. Similar findings occur in newborns exposed to nicotinergic acetylcholine receptor (AChR) ...
Hepatitis B Immunoglobulin in Combination with Lamivudine for Prevention of Hepatitis B Virus Reactivation in Children Undergoing Bone Marrow Transplantation
(WILEY, 2006)
Abstract: There is little information in literature about the use of hepatitis B immunoglobulin (HBIg) in recipients of bone marrow transplantation (BMT). Here, we report two children who received IV HBIg (Hepatect‐CP) and ...
Hemophagocytic Syndrome and Acute Liver Failure Associated with Ethylene Glycol Ingestion: A Case Report
(Taylor & Francis, 2006)
The authors describe a case of accidental ethylene glycol poisoning in an 18-month-old boy who developed hemophagocytic syndrome (HPS). Ethylene glycol is a common substance in various antifreeze preparations. Acute ethylene ...
A Prompt Graft-Versus-Thalassemia Effect upon Withdrawal of CyclosporineA in A Child Who Received Allogeneic Peripheral Blood Stem Cell Transplantation
(Nature, 2006)
Stable mixed chimerism is a common event in children with thalassemia major who have undergone bone marrow transplantation (BMT). However, persistence of unstable mixed chimerism in these children is associated with a ...