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Toplam kayıt 114, listelenen: 1-10
Cervical Spine Dysmorphism: Report Of Two Unusual Cases Of Craniovertebral Junction
(Ortadogu Ad Pres & Publ Co, 2010)
Craniocervical junction anomalies are rare and their classification is considerably complex. Here we report two unusual cases of cervical spine dysmorphism presenting with the absence of posterior vertebral elements which ...
Early Onset Collagen Vi Myopathies: Genetic and Clinical Correlations
(Wiley, 2010)
Objective: Mutations in the genes encoding the extracellular matrix protein collagen VI (ColVI) cause a spectrum of disorders with variable inheritance including Ullrich congenital muscular dystrophy, Bethlem myopathy, and ...
Early Detection of Pulmonary Fungal Infection By Ct Scan in Pediatric All Patients Under Chemotherapy or In Post-Transplantation Period With Primary Complaint of Chest Pain
(Aves Yayincilik, 2010)
We describe herein four children with acute lymphoblastic leukemia who were diagnosed as pulmonary fungal infection after presenting with chest pain. The plain radiologic evaluations failed to reveal any positive findings, ...
Comparing Different Revisions Of The Childhood Health Assessment Questionnaire To Reduce The Ceiling Effect And Improve Score Distribution: Data From A Multi-Center European Cohort Study Of Children With Jia
(2010)
Background The original version of the Childhood Health Assessment Questionnaire (CHAQ30orig) suffers from a ceiling effect and hence has reduced clinical validity. The purpose of this study was to evaluate the effect of ...
Chronic Myeloid Leukemia Presenting With Visual And Auditory Impairment In An Adolescent: An Insight To Management Strategies
(Springer India, 2010)
A 15-year-old girl presented with progressive deterioration in vision and hearing over 1 week. A huge spleen was palpated below the left costal margin laying down to inguinal region. Blood count showed hyperleukocytosis ...
An Unusual Presentation of Pediatric Acute Lymphoblastic Leukemia with Parotid Gland Involvement and Dactylitis
(Aves Yayincilik, 2010)
Mumps infection during the course of childhood acute lymphoblastic leukemia (ALL) treatment has been reported to have a mild course and this was related to the intrinsic low cytopathological effect of the virus, contrasting ...
Gray Platelet Syndrome: Natural History Of A Large Patient Cohort And Locus Assignment To Chromosome 3P
(Amer Soc Hematology, 2010)
Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by macrothrombocytopenia and absence of platelet alpha-granules resulting in typical gray platelets on peripheral smears. GPS is associated with ...
Disruption of the Podosome Adaptor Protein Tks4 (Sh3Pxd2B) Causes The Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome
(Cell Press, 2010)
Frank-Ter Haar syndrome (FTHS), also known as Ter Haar syndrome, is an autosomal-recessive disorder characterized by skeletal, cardiovascular, and eye abnormalities, such as increased intraocular pressure, prominent eyes, ...
Disruption of Alx1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding The Spectrum of Autosomal-Recessive Alx-Related Frontonasal Dysplasia
(Cell Press, 2010)
We present an autosomal-recessive frontonasal dysplasia (FND) characterized by bilateral extreme microphthalmia, bilateral oblique facial cleft, complete cleft palate, hypertelorism, wide nasal bridge with hypoplasia of ...
Genotype/Phenotype Correlation In Nephrotic Syndrome Caused By Wt1 Mutations
(Amer Soc Nephrology, 2010)
Background and objectives: The risk of developing Wilms tumor (WT) can be present or absent in patients with nephrotic syndrome (NS) caused by WT1 mutations. Here, the genotype/phenotype correlation regarding the outcome ...