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Mitochondrial (mt)DNA mutations have been revealed to be associated with Leber's hereditary optic neuropathy (LHON). The present study conducted clinical, genetic and molecular evaluations of two Han Chinese families. A total of 4 (3 men and 1 female) out of 14 matrilineal relatives in the families exhibited visual impairment with variable severity and age of onset. The average age of onset of visual loss was 20.5 years old. Molecular analysis of the complete mitochondrial genome in these pedigrees demonstrated that the three primary mutations associated with LHON were not detected; however, the homoplasmic m.5587T>C mutation was identified, which was localized at the end of the mitochondrially encoded transfer (t)RNA alanine gene and may alter the tertiary structure of this tRNA. Subsequently, this structural alteration may result in tRNA metabolism failure. In addition, distinct sets of mtDNA polymorphisms belonging to haplogroup F1 were detected in both families tested. The findings of the present study suggested that the m.5587T>C mutation may be involved in the pathogenesis of visual impairment. In addition, the mtDNA variant m.15024G>A(p.C93H) in the mitochondrially encoded cytochrome B gene was detected in both families, which exhibited evolutionary conservation, indicating it may serve a potential modifying role in the development of visual impairment associated with m.5587T>C mutation in these families. Furthermore, other modifying factors, including nuclear modifier genes, and environmental and personal factors may also contribute to the development of LHON in subjects carrying this mutation. [ABSTRACT FROM AUTHOR]

BACKGROUND:Sinus fungus ball, an accumulation of fungal dense concretions, is a common disease in practice, and might cause fatal complications or lead to death once converted into invasive type. Early preoperative diagnosis of this disease can lead to appropriate treatment for patients and prevent multiple surgical procedures. Up to now, the diagnostic criteria of sinus fungus ball have been defined and computed tomography (CT) scan was considered as a valuable preoperative diagnostic tool. However, the sensitivity of clinical CT is only about 62%. Thus, investigating the factors which influence sensitivity is necessary for clinical CT to be a more valuable preoperative diagnosis tool. Furthermore, CT scan usually presents micro-calcifications or spots with metallic density in sinus fungus ball. Previous literatures show that there are some metallic elements such as calcium and zinc in fungus ball, and they concluded that endodontic treatment has a strong correlation with the development of maxillary sinus fungus ball and zinc ion was an exogenous risk factor. But the pathogenesis of sinus fungus ball still remains unclear because fungus ball can also develop in other non-maxillary sinuses or the maxillary sinus without root canal treatment. Is zinc ion the endogenous factor? Study on this point might be also helpful for investigating the pathogenesis of sinus fungus ball. In this paper, we tried to investigate the factors which influence the sensitivity of clinical CT by imaging sinus fungus ball with microCT. The origin of zinc ion was also studied through elements test for different fungal ball samples using x-ray fluorescence technique. METHODS:Specimens including fungal ball material and sinus mucosa from patients confirmed by pathological findings were extracted after surgery. All fungal ball specimens came from sphenoid sinus, ethmoidal sinus and maxillary sinus with or without previous endodontic treatment respectively. All of them were imaged by microCT with spatial resolution up to 5μm to acquire three-dimensional structure, and then the heavy metal elements were detected with x-ray fluorescence spectrometer analysis. RESULT:High concentration of zinc and calcium were detected in all fungal ball specimens compared to sinus mucosa membrane. Particles with different size varied from disperse to density, which have similar shape to the result of clinical CT but with different size, were found in three-dimensional reconstruction results of microCT. CONCLUSIONS:Spatial resolution is an influent factor of clinical CT sensitivity for sinus fungus ball. Improving the resolution of clinical CT will help to improve its sensitivity. Besides iatrogenic endodontic materials, endogenous metal elements of zinc and calcium might associate with the growth of fungal ball and the micro-calcifications or spots with metallic density of CT imaging.