14 research outputs found

    Familial chylomicronemia: A rare case report

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    We report a 5-day-old neonate born out of 3rd-degree consanguinity who presented with milky blood, hepatosplenomegaly, and lipemia retinalis (fundus examination). The baby was asymptomatic, euglycemic, and did not have xanthomas. Lipid profile was altered (total cholesterol - 2340 mg/dl, triglycerides (TG) - >10,000 mg/dl, high-density lipoprotein - <5 mg/dl, lipoprotein (a) - <10.1 mg/dl, and apolipoprotein A1 - 795 mg/dl). Lipid profile of mother, father, and elder sibling were normal. The baby was started on skimmed milk powder and medium-chain TGs powder. The baby is under follow-up and lipid profile is improving

    A framework for human microbiome research

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    A variety of microbial communities and their genes (the microbiome) exist throughout the human body, with fundamental roles in human health and disease. The National Institutes of Health (NIH)-funded Human Microbiome Project Consortium has established a population-scale framework to develop metagenomic protocols, resulting in a broad range of quality-controlled resources and data including standardized methods for creating, processing and interpreting distinct types of high-throughput metagenomic data available to the scientific community. Here we present resources from a population of 242 healthy adults sampled at 15 or 18 body sites up to three times, which have generated 5,177 microbial taxonomic profiles from 16S ribosomal RNA genes and over 3.5 terabases of metagenomic sequence so far. In parallel, approximately 800 reference strains isolated from the human body have been sequenced. Collectively, these data represent the largest resource describing the abundance and variety of the human microbiome, while providing a framework for current and future studies

    Structure, function and diversity of the healthy human microbiome

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    Author Posting. © The Authors, 2012. This article is posted here by permission of Nature Publishing Group. The definitive version was published in Nature 486 (2012): 207-214, doi:10.1038/nature11234.Studies of the human microbiome have revealed that even healthy individuals differ remarkably in the microbes that occupy habitats such as the gut, skin and vagina. Much of this diversity remains unexplained, although diet, environment, host genetics and early microbial exposure have all been implicated. Accordingly, to characterize the ecology of human-associated microbial communities, the Human Microbiome Project has analysed the largest cohort and set of distinct, clinically relevant body habitats so far. We found the diversity and abundance of each habitat’s signature microbes to vary widely even among healthy subjects, with strong niche specialization both within and among individuals. The project encountered an estimated 81–99% of the genera, enzyme families and community configurations occupied by the healthy Western microbiome. Metagenomic carriage of metabolic pathways was stable among individuals despite variation in community structure, and ethnic/racial background proved to be one of the strongest associations of both pathways and microbes with clinical metadata. These results thus delineate the range of structural and functional configurations normal in the microbial communities of a healthy population, enabling future characterization of the epidemiology, ecology and translational applications of the human microbiome.This research was supported in part by National Institutes of Health grants U54HG004969 to B.W.B.; U54HG003273 to R.A.G.; U54HG004973 to R.A.G., S.K.H. and J.F.P.; U54HG003067 to E.S.Lander; U54AI084844 to K.E.N.; N01AI30071 to R.L.Strausberg; U54HG004968 to G.M.W.; U01HG004866 to O.R.W.; U54HG003079 to R.K.W.; R01HG005969 to C.H.; R01HG004872 to R.K.; R01HG004885 to M.P.; R01HG005975 to P.D.S.; R01HG004908 to Y.Y.; R01HG004900 to M.K.Cho and P. Sankar; R01HG005171 to D.E.H.; R01HG004853 to A.L.M.; R01HG004856 to R.R.; R01HG004877 to R.R.S. and R.F.; R01HG005172 to P. Spicer.; R01HG004857 to M.P.; R01HG004906 to T.M.S.; R21HG005811 to E.A.V.; M.J.B. was supported by UH2AR057506; G.A.B. was supported by UH2AI083263 and UH3AI083263 (G.A.B., C. N. Cornelissen, L. K. Eaves and J. F. Strauss); S.M.H. was supported by UH3DK083993 (V. B. Young, E. B. Chang, F. Meyer, T. M. S., M. L. Sogin, J. M. Tiedje); K.P.R. was supported by UH2DK083990 (J. V.); J.A.S. and H.H.K. were supported by UH2AR057504 and UH3AR057504 (J.A.S.); DP2OD001500 to K.M.A.; N01HG62088 to the Coriell Institute for Medical Research; U01DE016937 to F.E.D.; S.K.H. was supported by RC1DE0202098 and R01DE021574 (S.K.H. and H. Li); J.I. was supported by R21CA139193 (J.I. and D. S. Michaud); K.P.L. was supported by P30DE020751 (D. J. Smith); Army Research Office grant W911NF-11-1-0473 to C.H.; National Science Foundation grants NSF DBI-1053486 to C.H. and NSF IIS-0812111 to M.P.; The Office of Science of the US Department of Energy under Contract No. DE-AC02-05CH11231 for P.S. C.; LANL Laboratory-Directed Research and Development grant 20100034DR and the US Defense Threat Reduction Agency grants B104153I and B084531I to P.S.C.; Research Foundation - Flanders (FWO) grant to K.F. and J.Raes; R.K. is an HHMI Early Career Scientist; Gordon&BettyMoore Foundation funding and institutional funding fromthe J. David Gladstone Institutes to K.S.P.; A.M.S. was supported by fellowships provided by the Rackham Graduate School and the NIH Molecular Mechanisms in Microbial Pathogenesis Training Grant T32AI007528; a Crohn’s and Colitis Foundation of Canada Grant in Aid of Research to E.A.V.; 2010 IBM Faculty Award to K.C.W.; analysis of the HMPdata was performed using National Energy Research Scientific Computing resources, the BluBioU Computational Resource at Rice University

    Effects of a single episode of subgingival irrigation with tetracycline HCl or chlorhexidine: A clinical and microbiological study

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    Background: The present study was designed to evaluate clinical and antimicrobial effects of a single episode of subgingival tetracycline or chlorhexidine (CHX) irrigation in the absence of scaling and root planing. Materials and Methods: Thirty patients diagnosed with chronic periodontitis were recruited for this study, each providing four non-adjacent untreated periodontal pockets with a probing depth equal to or exceeding 6 mm. The four deep periodontal pockets in each patient were assigned to be irrigated with 150 ml each of CHX digluconate 0.2% (group A), tetracycline HCl at concentrations of 10 and 50 mg/ml (groups B and C, respectively), or sterile saline (group D) in a single episode. Recordings of plaque index (PI), gingival index (GI), probing pocket depth (PD), clinical attachment level (CAL), and subgingival bacterial counts from paper point samples were made pre-irrigation (day 0), and at days 7, 28, 56, and 84, post-irrigation. Results: The mean PI and GI scores for all the four groups were reduced post-irrigation, the reduction being significantly higher in group C compared to the other groups. The reduction in the PD and CAL was more significant in group C from day 0 to day 7, whereas the other groups showed minimal changes during this period. The change in the bacterial count was altered towards one of the periodontal health, it being more significant and consistent in the group C. Conclusion: The results of this study suggest that subgingival irrigation with high concentrations of tetracycline may play a beneficial role in the management of chronic periodontitis patients
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