62 research outputs found
Hymen Repair on the Arabic Internet
The permissability of hymen repair surgery is a controversial topic in Islamic contexts, as the opposing views of doctors convening at the 1987 meeting of the Islamic Organization of Medical Sciences testified. One would expect to find an even more diverse plethora of voices on the Internet, but the authors show that notwithstanding the image of the net as a decentralized medium that spurs pluralism, in practice it functions as a filter in which only a few dominant voices are heard in tremendous duplication
Sudden cardiac death due to deficiency of the mitochondrial inorganic pyrophosphatase PPA2
We have used whole exome sequencing to identify biallelic missense mutations in the nuclearencoded
mitochondrial inorganic pyrophosphatase (PPA2) in ten individuals from four unrelated
pedigrees that are associated with mitochondrial disease. These individuals show a range of severity,
indicating that PPA2 mutations may cause a spectrum of mitochondrial disease phenotypes. Severe
symptoms include seizures, lactic acidosis and cardiac arrhythmia and death within days of birth. In
the index family, presentation was milder and manifested as cardiac fibrosis and an exquisite
sensitivity to alcohol, leading to sudden arrhythmic cardiac death in the second decade of life.
Comparison of normal and mutated PPA2 containing mitochondria from fibroblasts showed the
activity of inorganic pyrophosphatase significantly reduced in affected individuals. Recombinant
PPA2 enzymes modeling hypomorphic missense mutations had decreased activity that correlated
with disease severity. These findings confirm the pathogenicity of PPA2 mutations, and suggest that
PPA2 is a new cardiomyopathy-associated protein, which has a greater physiological importance in
mitochondrial function than previously recognized
Microbial cycling of isoprene, the most abundantly produced biological volatile organic compound on Earth
Isoprene (2-methyl-1,3-butadiene), the most abundantly produced biogenic volatile organic compound (BVOC) on Earth, is highly reactive and can have diverse and often detrimental atmospheric effects, which impact on climate and health. Most isoprene is produced by terrestrial plants, but (micro)algal production is important in aquatic environments, and the relative bacterial contribution remains unknown. Soils are a sink for isoprene, and bacteria that can use isoprene as a carbon and energy source have been cultivated and also identified using cultivation-independent methods from soils, leaves and coastal/marine environments. Bacteria belonging to the Actinobacteria are most frequently isolated and identified, and Proteobacteria have also been shown to degrade isoprene. In the freshwater-sediment isolate, Rhodococcus strain AD45, initial oxidation of isoprene to 1,2-epoxy-isoprene is catalyzed by a multicomponent isoprene monooxygenase encoded by the genes isoABCDEF. The resultant epoxide is converted to a glutathione conjugate by a glutathione S-transferase encoded by isoI, and further degraded by enzymes encoded by isoGHJ. Genome sequence analysis of actinobacterial isolates belonging to the genera Rhodococcus, Mycobacterium and Gordonia has revealed that isoABCDEF and isoGHIJ are linked in an operon, either on a plasmid or the chromosome. In Rhodococcus strain AD45 both isoprene and epoxy-isoprene induce a high level of transcription of 22 contiguous genes, including isoABCDEF and isoGHIJ. Sequence analysis of the isoA gene, encoding the large subunit of the oxygenase component of isoprene monooxygenase, from isolates has facilitated the development of PCR primers that are proving valuable in investigating the ecology of uncultivated isoprene-degrading bacteria
Photography-based taxonomy is inadequate, unnecessary, and potentially harmful for biological sciences
The question whether taxonomic descriptions naming new animal species without type specimen(s) deposited in collections should be accepted for publication by scientific journals and allowed by the Code has already been discussed in Zootaxa (Dubois & NemĂ©sio 2007; Donegan 2008, 2009; NemĂ©sio 2009aâb; Dubois 2009; Gentile & Snell 2009; Minelli 2009; Cianferoni & Bartolozzi 2016; Amorim et al. 2016). This question was again raised in a letter supported
by 35 signatories published in the journal Nature (Pape et al. 2016) on 15 September 2016. On 25 September 2016, the following rebuttal (strictly limited to 300 words as per the editorial rules of Nature) was submitted to Nature, which on
18 October 2016 refused to publish it. As we think this problem is a very important one for zoological taxonomy, this text is published here exactly as submitted to Nature, followed by the list of the 493 taxonomists and collection-based
researchers who signed it in the short time span from 20 September to 6 October 2016
EXTREME VARIABILITY OF CLINICAL SYMPTOMS AMONG SIBS IN A MELAS FAMILY CORRELATED WITH HETEROPLASMY FOR THE MITOCHONDRIAL A3243G MUTATION
In a family with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with extremely varying clinical expression, we have identified the A3243G heteroplasmic point mutation in mitochondrial DNA. The degree of severity of the clinical symptoms in the various family members was reflected in the relative quantity of mutated mitochondrial DNA in different tissues. The biochemical activity of complex I of the respiratory chain in muscle was decreased in some members of this family
EXTREME VARIABILITY OF CLINICAL SYMPTOMS AMONG SIBS IN A MELAS FAMILY CORRELATED WITH HETEROPLASMY FOR THE MITOCHONDRIAL A3243G MUTATION
In a family with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with extremely varying clinical expression, we have identified the A3243G heteroplasmic point mutation in mitochondrial DNA. The degree of severity of the clinical symptoms in the various family members was reflected in the relative quantity of mutated mitochondrial DNA in different tissues. The biochemical activity of complex I of the respiratory chain in muscle was decreased in some members of this family
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