Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman Disease): Report of a case in a Nigerian Teaching Hospital

Sinus histiocytosis with massive lymphadenopathy (SHML) is a rare, benign disease of unknown aetiology. This disease typically presents with massive, painless cervical lymphadenopathy but may occur in a wide variety of extranodal sites. This report describes a 43-year old man with a left submandibular swelling and left lateral cervical lymphadenopathy clinically suggestive of a malignancy. Initial cytological examination of a fine needle aspirate specimen taken from the mass suggested a chronic granulomatous inflammatory lesion. A definitive diagnosis of SHML was however made only after excisional biopsy of the lesion. The patient was followed up for 6 months and no recurrence of the lesion was observed. SHML may be considered a rare lesion among Nigerians. Knowledge of its clinical presentation with understanding of the differentials diagnosis is important to avoid unnecessary intervention. The diagnosis can be made from FNAC, histopathology and immune-histochemistry. There is no ideal protocol for the treatment. Follow-up is however necessary to detect relapses

Concurrent pleomorphic adenoma in parapharyngeal space and submandibular gland

BACKGROUND: Pleomorphic adenoma in the parapharyngeal space either occurs de novo or as an extension from the deep lobe of the parotid gland. CASE PRESENTATION: A rare synchronous occurrence of pleomorphic adenoma in the parapharyngeal space and submandibular gland of a 48-year-old Nigerian male is reported. CONCLUSION: Pleomorphic adenoma concurrent in the parapharyngeal space and submandibular gland is very rare. A complete surgical excision of both tumors is the treatment of choice

Multidisciplinary approach to genomics research in Africa: the AfriCRAN model

This article is an outcome of the African Craniofacial Anomalies Research Network (AfriCRAN) Human Hereditary and Health (H3A) grant planning meeting in 2012 in Lagos, Nigeria. It describes the strengths of a multidisciplinary team approach to solving complex genetic traits in the craniofacial region. It also highlights the different components and argues for the composition of similar teams to fast track the discovery of disease genes, diagnostic tools, improved clinical treatment and ultimately prevention of diseases

Two new ArrayTrack libraries for personalized biomedical research

<p>Abstract</p> <p>Background</p> <p>Recent advances in high-throughput genotyping technology are paving the way for research in personalized medicine and nutrition. However, most of the genetic markers identified from association studies account for a small contribution to the total risk/benefit of the studied phenotypic trait. Testing whether the candidate genes identified by association studies are causal is critically important to the development of personalized medicine and nutrition. An efficient data mining strategy and a set of sophisticated tools are necessary to help better understand and utilize the findings from genetic association studies. </p> <p>Description</p> <p>SNP (single nucleotide polymorphism) and QTL (quantitative trait locus) libraries were constructed and incorporated into ArrayTrack, with user-friendly interfaces and powerful search features. Data from several public repositories were collected in the SNP and QTL libraries and connected to other domain libraries (genes, proteins, metabolites, and pathways) in ArrayTrack. Linking the data sets within ArrayTrack allows searching of SNP and QTL data as well as their relationships to other biological molecules. The SNP library includes approximately 15 million human SNPs and their annotations, while the QTL library contains publically available QTLs identified in mouse, rat, and human. The QTL library was developed for finding the overlap between the map position of a candidate or metabolic gene and QTLs from these species. Two use cases were included to demonstrate the utility of these tools. The SNP and QTL libraries are freely available to the public through ArrayTrack at <url>http://www.fda.gov/ArrayTrack</url>. </p> <p>Conclusions</p> <p>These libraries developed in ArrayTrack contain comprehensive information on SNPs and QTLs and are further cross-linked to other libraries. Connecting domain specific knowledge is a cornerstone of systems biology strategies and allows for a better understanding of the genetic and biological context of the findings from genetic association studies. </p

The META tool optimizes metagenomic analyses across sequencing platforms and classifiers

A major challenge in the field of metagenomics is the selection of the correct combination of sequencing platform and downstream metagenomic analysis algorithm, or “classifier”. Here, we present the Metagenomic Evaluation Tool Analyzer (META), which produces simulated data and facilitates platform and algorithm selection for any given metagenomic use case. META-generated in silico read data are modular, scalable, and reflect user-defined community profiles, while the downstream analysis is done using a variety of metagenomic classifiers. Reported results include information on resource utilization, time-to-answer, and performance. Real-world data can also be analyzed using selected classifiers and results benchmarked against simulations. To test the utility of the META software, simulated data was compared to real-world viral and bacterial metagenomic samples run on four different sequencers and analyzed using 12 metagenomic classifiers. Lastly, we introduce “META Score”: a unified, quantitative value which rates an analytic classifier’s ability to both identify and count taxa in a representative sample

Trio-Based GWAS Identifies Novel Associations and Subtype-Specific Risk Factors for Cleft Palate

Cleft palate (CP) is one of the most common craniofacial birth defects; however, there are relatively few established genetic risk factors associated with its occurrence despite high heritability. Historically, CP has been studied as a single phenotype, although it manifests across a spectrum of defects involving the hard and/or soft palate. We performed a genome-wide association study using transmission disequilibrium tests of 435 case-parent trios to evaluate broad risks for any cleft palate (ACP) (n = 435), and subtype-specific risks for any cleft soft palate (CSP), (n = 259) and any cleft hard palate (CHP) (n = 125). We identified a single genome-wide significant locus at 9q33.3 (lead SNP rs7035976, p = 4.24 × 1