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Molecular Based Newborn Screening in Germany: Follow-up for Cystinosis
Abstract: Background Newborn screening (NBS) programs for treatable metabolic disorders have been enormously successful, but molecular-based screening has not been broadly implemented so far. Methods This prospective pilot study was performed within the German NBS framework. DNA, extracted from dried blood cards was collected as part of the regular NBS program. As cystinosis has a prevalence of only 1:100,000-1:200,000, a molecular genetic assay for detection of the SMN1 gene mutation with a higher prevalence was also included in the screening process, a genetic defect that leads to spinal muscular atrophy (SMA). First tier multiplex PCR was employed for both diseases. The cystinosis screeni...
Thermophiles: Biodiversity, Ecology, and Evolution
These are indeed exciting times to be a microbiologist. With one of the buzzwords of the past decade-"Biodiversity," and microbes are reveling in the attention as they represent by far most of the biodiversity on Earth. Microbes can thrive in almost any environment where there is an exploitable energy source, and, as a result, the possible existence of microbial life elsewhere in the solar system has stimulated the imaginations of many. Extremophiles have taken center stage in these investigations, and thermophiles have taken on the lead roles. Consequently, in the past decade there has been a surge of interest and research in the Ecology, Biology, and Biotechnology of microorganisms from th...
Sulfur-inhibited Thermosphaera Aggregans Sp. Nov., a New Genus of Hyperthermophilic Archaea Isolated After Its Prediction from Environmentally Derived 16S RRNA Sequences
Recently, a new procedure was developed which allowed for the first time the isolation of a hyperthermophilic archaeum tracked by 16S rRNA analysis from a terrestrial hot solfataric spring (?Obsidian Pool?, Yellowstone National Park, WY, USA). This novel isolate is characterized here. Cells are round cocci with a diameter of 0?2--0?8 ?m, occurring singly, in pairs, short chains and in grape-like aggregates. The aggregates exhibit a weak bluish-green fluorescence under UV radiation at 420 nm. The new isolate is an anaerobic obligate heterotroph, using preferentially yeast extract for growth. The metabolic products include CO2, H2, acetate and isovalerate. Growth is observed between 65 and 90 ...
Isolation of a Hyperthermophilic Archaeum Predicted by in Situ RNA Analysis
A variety of hyperthermophilic bacteria and archaea have been isolated from high-temperature environments by plating and serial dilutions. However, these techniques allow only the small percentage of organisms able to form colonies, or those that are predominant within environmental samples, to be obtained in pure culture. Recently, in situ 16S ribosomal RNA analyses of samples from the Obsidian hot pool at Yellowstone National Park, Wyoming, revealed a variety of archaeal sequences, which were all different from those of previously isolated species. This suggests substantial diversity of archaea with so far unknown morphological, physiological and biochemical features, which may play an important part within high-temperature ecosystems. Here we describe a procedure to obtain pure cultures of unknown organisms harbouring specific 16S rRNA sequences identified previously within the environment. It combines visual recognition of single cells by phylogenetic staining and cloning by 'optical tweezers'. Our result validates polymerase chain reaction data on the existence of large archael communities.
Rapid Cycle Real-Time PCR — Methods and Applications
Rapid-Cycle Real-Time PCR is a powerful technique for nucleic acid amplification and analysis that often requires less than half an hour to perform. Samples are amplified by rapid-cycle PCR followed by immediate melting curve analysis in the same instrument. Melting curve analysis of PCR products with SYBR Green I often allows product identification without gel electrophoresis. Furthermore, in the presence of fluorescent hybridization probes, melting curves provide "dynamic dot blots" for fine sequence analysis, including single nucleotide polymorphisms (SNPs). The method is often cited as the most versatile, efficient method for nucleic acid analysis in research and diagnostics in the fields of genetics and oncology. Molecular diagnostics has never been easier!
The Third Domain
The Third Domain is the untold story of how the discovery of a new form of life-first ridiculed, then ignored for the past thirty years by mainstream scientists-is revolutionizing science, industry, and even our search for extraterrestrial life. Classification is a serious issue for science: if you don't know what you're looking at, how can you interpret what you see? Starting with Carolus Linnaeus in the 17th century, scientists have long struggled to order and categorize the many forms of life on Earth. But by the early 20th century the tree of life seemed to have stabilized, with two main domains of life at its roots: single-celled and multi-celled organisms. All creatures fit into one of...
Frontiers of Life
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Silver-Based Antimicrobials
There is some talk about an antibiotic Armageddon due to quickly developing resistance towards commercially available antibiotics. For the most part, the classical antibiotic pipeline has dried up, and antibiotic resistance to any new drugs quickly develops. It is here that metal-based antimicrobials can step forward as possible solutions in this antimicrobial resistance era. The biological targets of metal atoms are more diverse, thus making it more difficult for bacteria to develop resistance compared with classical antibiotics. The metal silver has been used since antiquity for wound healing and water purification. At present, it is the most prevalent antimicrobial metal used in healthcar...
Geomicrobiology
Volume 35 of Reviews in Mineralogy defines and explore the topic of geomicrobiology. It is organized so as to first introduce the nature, diversity, and metabolic impact of microorganisms and the types of solid phases they interact with. This is followed by a discussion of processes that occur at cell surfaces, interfaces between microbes and minerals, and within cells, and the resulting mineral precipitation, dissolution, and changes in aqueous geochemistry. The volume concludes with a discussion of the carbon cycle over geologic time. Basis for this volume was the Short Course on Geomicrobiology presented by the Mineralogical Society of America on October 18 and 19, 1997, at the Alta Peruvian Lodge in Alta, Utah.
