Zhang W.-M.,Pathology and Laboratory Medicine Institute |
Natowicz M.R.,Pathology and Laboratory Medicine Institute |
Natowicz M.R.,Cleveland Clinic |
Natowicz M.R.,Genomic Medicine Institute |
Natowicz M.R.,Pediatrics Institute
Clinical Biochemistry | Year: 2013
Objectives: Determinations of cerebrospinal fluid (CSF) lactate and pyruvate concentrations and CSF lactate:pyruvate (L/P) ratios are important in several clinical settings, yet published normative data have significant limitations. We sought to determine a large dataset of stringently-defined normative data for CSF lactate and pyruvate concentrations and CSF L/P ratios. Design and methods: We evaluated data from 627 patients who had determinations of CSF lactate and/or CSF pyruvate from 2001 to 2011 at the Cleveland Clinic. Inclusion in the normal reference population required normal CSF cell counts, glucose and protein and routine serum chemistries and absence of progressive brain disorder, epilepsy, or seizure within 24. h. Brain MRI, if done, showed no evidence of tumor, acute changes or basal ganglia abnormality. CSF cytology, CSF alanine and immunoglobulin levels, and oligoclonal band analysis were required to be normal, if done. Various inclusion/exclusion criteria were compared. Results: 92 patients fulfilled inclusion/exclusion criteria for a reference population. The 95% central intervals (2.5%-97.5%) for CSF lactate and pyruvate levels were 1.01-2.09. mM and 0.03-0.15. mM, respectively, and 9.05-26.37 for CSF L/P. There were no significant gender-related differences of CSF lactate or pyruvate concentrations or of CSF L/P. Weak positive correlations between the concentration of CSF lactate or pyruvate and age were noted. Conclusions: Using stringent inclusion/exclusion criteria, we determined normative data for CSF lactate and pyruvate concentrations and CSF L/P ratios in a large, well-characterized reference population. Normalcy of routine CSF and blood analytes are the most important parameters in determining reference intervals for CSF lactate and pyruvate. © 2012 The Canadian Society of Clinical Chemists.
Sivalingam M.,UKM Medical Molecular Biology Institute UMBI |
Looi M.L.,UKM Medical Molecular Biology Institute UMBI |
Zakaria S.Z.S.,National University of Malaysia |
Hamidah N.H.,National University of Malaysia |
And 5 more authors.
International Journal of Laboratory Hematology | Year: 2012
Introduction: To study the ß-gene mutations spectrum, the genotype/phenotype correlation, the modulatory effect of co-inherited factors such as α-gene mutations and of Xmn1 polymorphism in a large cohort of Malaysian patients. Methods: A total of 264 cases clinically diagnosed as Thalassemia major (TM) (111), Thalassemia intermedia (21), HbE-β Thalassemia (131), and 1 HbE homozygous were studied. The detection of α and ß gene mutations and characterization of Xmn1 polymorphism were performed by multiplex PCR, amplification refractory mutation system (ARMS), DNA sequencing, and restriction fragment length polymorphism (RFLP)-PCR. Results: A total of 19 ß Thalassemia mutations were characterized. CD26 and CD41/42 were the most common found in the Malay and Chinese population, respectively. The sensitivity of the clinical diagnosis for β TM, thalassemia intermedia, and HbE/β thalassemia was 94.0%, 15.2%, and 89.2%, respectively. Patients with Xmn1 heterozygosity [+/-] required less frequent transfusion compared with those without the polymorphism. Co-inheritance of α-thalassemia alleviates the severity of HbE-β thalassemia in our cohort. Conclusion: Molecular analysis should be used for a better diagnosis and management of β thalassemia. © 2012 Blackwell Publishing Ltd.
Greiwe J.C.,Bernstein Allergy Group |
Pazheri F.,Pediatrics Institute |
Schroer B.,Cleveland Clinic
Journal of Allergy and Clinical Immunology: In Practice | Year: 2015
Background: Rates of food allergies in children as well as the rate of families who employ nannies have increased dramatically over the past decade. It is essential that nannies have the knowledge and tools necessary to recognize and treat food allergy reactions. Objective: To identify gaps in knowledge in the nanny population with regard to food allergy in children. Methods: A Web-based survey was sent by e-mail to 709 nannies. Results: A total of 153 nannies (22%) completed the online survey: 26% of respondents had formal educational training at a nanny school; 99% recognized food allergy as a potentially fatal event; 37% reported caring for a child with food allergies. Of these, 71% had food allergy action plans, and 63% had epinephrine available. A total of 71% reported training on administering epinephrine. The nannies' major concerns included accidental ingestion and discomfort in administering epinephrine. A total of 36% were uncomfortable with recognizing a food allergy emergency, whereas 46% were uncomfortable administering epinephrine; 6% thought that a sensitized child could safely eat a small amount of allergenic food, whereas 14% believed that dilution with water might reduce an allergic reaction. A total of 66% desired additional information about recognizing food allergies, and 71% agreed that food allergy training should be required for all nannies. Conclusion: Nannies demonstrated gaps in knowledge with regard to food allergy in children, which reflects the need for more stringent training and education. Increased communication among parents, nannies, and physicians is needed to protect children with food allergy. © 2014 American Academy of Allergy, Asthma & Immunology.
Aljubeh J.M.,Pediatrics Institute |
Wang J.,Stanford University |
Al-Remeithi S.S.,Pediatrics Institute |
Malloy P.J.,Stanford University |
Feldman D.,Stanford University
Journal of Pediatric Endocrinology and Metabolism | Year: 2011
Background/aims: Two unrelated patients found to have hereditary vitamin D resistant rickets (HVDRR) were admitted to our hospital. Methods: This article describes the diagnosis, management and molecular basis for their disease. Results: Both patients had severe growth and motor developmental retardation, rickets with chest deformities and pulmonary abnormalities, but no alopecia. Both had hypocalcemia, secondary hyperparathyroidism and susceptibility to pulmonary infections. In both cases, good response with normalization of abnormal biochemistries and healing of rickets was achieved with IV calcium infusion. Subsequently, improvement was maintained with oral calcium. Both children harbored the same unique missense mutation in the vitamin D receptor (VDR) gene that substituted arginine with histidine at amino acid 274 (R274H) in the VDR ligand-binding domain (LBD). R274 is a contact point for the 1 α-hydroxyl group of 1,25(OH) 2D 3, the active ligand for the VDR. Functional analyses of the R274H mutation revealed a 100-fold decrease in activity compared to wild-type VDR. Conclusion: We describe a novel missense mutation at R274H in the VDR gene that resulted in the HVDRR syndrome in two unrelated children. Vigorous treatment using IV calcium to normalize their hypocalcemia achieved dramatic improvement in these complex and severely ill patients. © 2011 by Walter de Gruyter • Berlin • Boston.