Rubinstein-Taybi syndrome in diverse populations.

Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in individuals of European descent but not in other populations. In this study, individuals from diverse populations with RSTS were assessed by clinical examination and facial analysis technology. Clinical data of 38 individuals from 14 different countries were analyzed. The median age was 7 years (age range: 7 months to 47 years), and 63% were females. The most common phenotypic features in all population groups included broad thumbs and/or halluces in 97%, convex nasal ridge in 94%, and arched eyebrows in 92%. Face images of 87 individuals with RSTS (age range: 2 months to 47 years) were collected for evaluation using facial analysis technology. We compared images from 82 individuals with RSTS against 82 age- and sex-matched controls and obtained an area under the receiver operating characteristic curve (AUC) of 0.99 (p < .001), demonstrating excellent discrimination efficacy. The discrimination was, however, poor in the African group (AUC: 0.79; p = .145). Individuals with EP300 variants were more effectively discriminated (AUC: 0.95) compared with those with CREBBP variants (AUC: 0.93). This study shows that clinical examination combined with facial analysis technology may enable earlier and improved diagnosis of RSTS in diverse populations.

A COMPARISON OF RAPID DIAGNOSTIC TESTING (BY PLASMODIUM LACTATE DEHYDROGENASE), AND QUANTITATIVE BUFFY COAT TECHNIQUE IN MALARIA DIAGNOSIS IN CHILDREN.

BACKGROUND: The World Health Organization (WHO) considers early and rapid diagnosis as one of the strategies to control malaria. This study compared the performance of Quantitative Buffy Coat (QBC) test and the Plasmodium lactate dehydrogenase (pLDH) rapid diagnostic test (RDT) with microscopy as the gold standard. MATERIALS AND METHODS: The study involved children ages 0-5 years who presented with a history of fever at the University College Hospital, Ibadan, Nigeria. Blood was collected from each patient and used for RDT, QBC and Giemsa-stained blood films for malaria parasites (MP). Results of QBC and RDT were compared with microscopy results for the diagnosis of malaria. RESULTS: A total of 370 cases (194 boys and 176 girls) were studied giving a male: female ratio of 1.1:1. Of the 370 cases tested using Giemsa-stained thick blood films for MP, 78 (21 %) were positive. For the QBC test, 78 (21%) of the cases were positive with sensitivity, specificity, positive and negative predictive values of 70.5 %, 92.1%, 70.5 % and 92.1 % respectively. Seventy-six (20%) of the cases were positive by RDT with sensitivity, specificity, positive and negative predictive values of 84.2 %, 95.2 %, 82.1 %, and 95.9 % respectively. There was no significant difference in the sensitivity of QBC compared with the RDT. CONCLUSION: Both the QBC and the pfLDH (RDT) performed reasonably well in this study Malaria rapid diagnostic tests are recommended in malaria endemic clinical settings to avoid unnecessary antimalarial treatment. List of Abbreviations: AO: Acridine orange, AIDS: Acquired immunodeficiency syndrome, ACT: Artemisinin-based combination therapy, CM:Cerebral malaria, BCP:Benzothiocarboxypurine, DDT:Dichloro-diphenyl-trichloroethane, DNA:DeoxyriboNucleic Acid, ELAM-1: Endothelial leukocyte adhesion molecule, G6PD: Glucose-6-Phosphate Dehydrogenase, HIV: Human immuno deficiency virus, HRP 2: Histidine Rich Protein 2, ICAM -1: Inter cellular adhesion molecule1, ICER: Incremental cost effectiveness ratio, IL-1: Interleukin -1, IFN-g: Interferon-gamma, IgG: Immunoglobulin G, MP: Malaria parasite, NADP: Oxidised Nicotinamide Adenine Dinucleotide Phosphate, NADPH: Reduced Nicotinamide Adenine Dinucleotide Phosphate, PCV: Packed Cell Volume (haematocrit), P. falciparum: Plasmodium falciparum, PLDH: Plasmodium lactate dehydrogenase, PCR: Polymerase Chain Reaction, PPV: Positive predictive value, QBC: Quantitative Buffy Coat examination, TNF: Tumour necrosis factor, NPV: Negative predictive value, RDT: Rapid diagnostic test, SP: Sulphadoxine -Pyrimethamine, SMA: Severe malarial anaemia, UM: Uncomplicated malaria, USA:United States of America, VCAM-1: Vascular cell adhesion molecule, WBC: White Blood Cell, WHO: World Health Organization.