Multiple acyl-CoA dehydrogenation deficiency (MADD) is an autosomal recessive disease affecting amino acid, fatty acid, and choline metabolisms and is a common genetic defect responsible for lipid storage myopathy. Most forms of MADD are caused by a deficiency of electron transfer flavoprotein (ETF) or ETF dehydrogenase (ETFDH). However, its molecular feature has not been found uniformly in previous reports of Chinese patients. A large cohort of 56 late-onset MADD patients from 51 unrelated pedigrees in southern China was recruited to investigate a clear correlation between clinical phenotype and molecular genetic basis. All exons of ETFA, ETFB, and ETFDH, including the intron-exon boundaries, and 5' and 3' untranslated regions were directly sequenced. ETFDH deficiencies affected 94.1% (48/51) of the pedigrees. ETFDH-c.250G>A is the most common mutation, representing a high allelic frequency of 83.3% (80/96). Carrier frequency of c.250G>A is estimated to be 1.35% (7/520) in the normal population. A significant reduced expression of ETFDH was identified in the muscle of ETFDH-deficient patients. ETFDH deficiency is a major cause of riboflavin-responsive MADD in southern China, and c.250G>A is an important mutation that could be employed as a fast and reliable screening method.

A coal burst mitigation strategy for tailgate in mining of deep inclined longwall panels with top coal caving at Huafeng Coal Mine is presented in this paper. Field data showed that coal bursts, rib sloughing or slabbing, large convergence, and so forth frequently occurred within the tailgate entries during development and panel retreating employing standard longwall top coal caving (LTCC) layout which resulted in fatal injuries and tremendous profit loss. The contributing factors leading to coal bursts were analyzed. Laboratory tests, in situ measurement, and field observation demonstrate that the intrinsic bursting proneness of the coal seam and immediate roof stratum, deep cover, overlying ultrathick (500–800 m) conglomerate strata, faults, and, most importantly, improper panel layout led to coal bursts. By employing a new strategy, that is, longwall mining with split-level gateroads (LMSG), gateroads on either end of a LMSG panel are located at different levels within a coal seam, adjacent LMSG panels overlap end to end, and the tailgate of the adjacent new LMSG panel can be located below the headgate entry of the previous LMSG panel or may be offset horizontally with respect to it. Numerical modeling was carried out to investigate the stress distribution and yield zone development within surrounding rock mass which was validated by field investigation. The results indicate that standard LTCC system gave rise to high ground pressure around tailgate entries next to the gob, while LMSG tailgate entry below the gob edge was in a destressed environment. Therefore, coal bursts are significantly mitigated. Field practice of LMSG at Huafeng Coal Mine demonstrates how the new strategy effectively dealt with coal burst problems in mining of deep inclined longwall panels with a reduced incidence of ground control problems. The new strategy can potentially be applied in similar settings.

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