Search
Now showing items 81-90 of 180
Additional Diverse Findings Expand The Clinical Presentation of Dock8 Deficiency
(Springer/Plenum Publishers, 2012)
We describe seven Turkish children with DOCK8 deficiency who have not been previously reported. Three patients presented with typical features of recurrent or severe cutaneous viral infections, atopic dermatitis, and ...
Novel Mutations Consolidate Kctd7 As A Progressive Myoclonus Epilepsy Gene
(Bmj Publishing Group, 2012)
Background The progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous disorders characterised by myoclonus, epilepsy, and neurological deterioration. This study aimed to identify ...
Pharmacokinetics of Colchicine in Pediatric and Adult Patients with Familial Mediterranean Fever
(Biolife Sas, 2012)
This study sought to determine the appropriate starting dose of colchicine in children aged 2 to 4 years with familial Mediterranean fever (FMF) based on steady-state pharmacokinetics in pediatric patients with FMF >= 2 ...
Research Needs in Allergy: An Eaaci Position Paper, in Collaboration with EFA
(2012)
In less than half a century, allergy, originally perceived as a rare disease, has become a major public health threat, today affecting the lives of more than 60 million people in Europe, and probably close to one billion ...
The Role Of Spink5 In Asthma Related Physiological Events In The Airway Epithelium
(W B Saunders Co Ltd, 2012)
Background: Genetic studies have shown that variants in SPINK5 may be associated with atopic diseases and asthma. However, the functional role of SPINK5 protein in asthma has not been elucidated. Objectives: To determine ...
The Role Of The Resistive Index In Hashimoto'S Thyroiditis: A Sonographic Pilot Study In Children
(2012)
OBJECTIVE: The role of Doppler ultrasonography in the diagnosis of diffuse thyroid diseases is not well established. In particular, Doppler ultrasonography findings in children with Hashimoto's thyroiditis are very limited. ...
Spinal Cord Involvement In A Child With Familial Hemophagocytic Lymphohistiocytosis
(2012)
The involvement of the central nervous system (CNS) in familial hemophagocytic lymphohistiocytosis (FHL) has known to be limited to the brain, brain stem, and cerebellum. Herein, we report an 11-year-old boy who presented ...
The Use Of The Midas Questionnaire To Assess Migraine And Tension Type Headache In Adolescents
(Ortadogu Ad Pres & Publ Co, 2012)
Objective: Headache is the most common type of pain that children and adolescents complain as well as being the most common neurological symptom. Among all school-age children, 15-20% experience headache and 3-5% of these ...
Maxillofacial Osteosarcoma Successfully Treated with Surgery and Adjuvant Chemotherapy in a Child
(Comenius Univ, 2012)
Maxillofacial osteosarcoma constitutes a minor percentage of all the head and neck tumors. We describe a 10 year-old girl presenting with swelling and pain in left maxillary region and diagnosed as low grade osteosarcoma. ...
Meiotic Errors Followed By Two Parallel Postzygotic Trisomy Rescue Events Are A Frequent Cause Of Constitutional Segmental Mosaicism
(2012)
Structural copy number variation (CNV) is a frequent cause of human variation and disease. Evidence is mounting that somatic acquired CNVs are prevalent, with mosaicisms of large segmental CNVs in blood found in up to one ...