PURPOSE:To investigate mitochondrial DNA(mtDNA) of Leber's hereditary optic neuropathy(LHON). METHODS:Polymerase chain reaction(PCR)method was used to analyse mtDNA of 11 patients in a pedigree with LHON and 4 control subjects from none LHON pedigree. RESULTS:There was a loss of a restriction site for the restriction endonuclease SfaN.Ⅰin Ihe Patients with LHON. In this pedigree,maternal lineage was regarded a carrier of the pathogenic gene. CONCLUSIONS:The patients with Leber's hereditary optic neuropathy have a point mutation in mtDNA,which results in loss ol SfaN I endonuclease restriction site .and this change is one of mechanisms inducing this disaese. （Chin J Ocul Fundus Dis,1997,13: 27-29）
Objective To study the etiology of primary intrahepatic stones. MethodsThe literatures in the recent years on the etiology of intrahepatic stone were revieved. Results The formation of intrahepatic stone mainly caused by bacteria infection, parasitic infestation, bile stasis, congenital anatomic abnormalities and immunoreaction of bile tract. Further investigation found that metabolic, low protein diet, environment and ethnic factors and gene mutation were considered to play important roles in the formation of the intrahepatic stone. Conclusion The formation of intrahepatic stone is complex and are result of multiple factors. It closely related to the infection and stasis of the bile duct.
Objective To review the recent research progress on relationshi p between subchondral bone and cartilage degeneration in osteoarthritis (OA), and to predict future research directions. Methods Recent l iteratures about the pathological changes of subchondral bone in OA were reviewed and analyzed in terms of biomechanics, bone remodel ingand biological factors. Results Subchondral bone sclerosis or softening was the result of osteoarthritis and also closely related to the occurrence and development of OA. Inhibiting the bone metabol ism of subchondral bone could slow the degeneration of articular cartilage. Conclusion For the treatment of OA, it is necessary to pay close attention to cartilage changes and the prevention of subchondral bone degeneration.
ObjectiveTo study the etiology and clinical features of patients with ophthalmoplegia resulting in vertigo. MethodsWe retrospectively analyzed the clinical data of 45 patients with vertigo caused by ophthamloplegia treated between January 2010 and December 2013. The causes and features of the disease, treatment and outcome were summarized. ResultsAmong the factors responsible for ophthalmoplegia resulting in vertigo, myasthenia gravis (MG) took the first place (20/45, 44.4%), followed by Graves' ophthalmopathy (9/45, 20.0%), diabetes (5/45, 11.1%), intracranial infection (4/45, 8.9%), medial rectus injury (3/45, 6.7%), orbital tumor (2/45, 4.4%), and Lambert-Eaton Myasthenic Syndrome (2/45, 4.4%). In 36 patients, the lesions located in the neuromuscular junction or muscles (80.0%). The pathogenesis of ophthalmoplegia were almost all caused by systemic diseases (88.9%), and the occurrence of local ophthalmology diseases was fewer (11.1%). Etiological treatments achieved beneficial effects. ConclusionThe etiology of ophthalmology diseases resulting in vertigo is confusing. We should care more for patients with ophthalmoplegia caused by systemic diseases resulting in ophthalmologic vertigo without vision damage. Careful examinations and proper treatments for etiological factors are necessary in clinical options.
ObjectiveTo analysis the causes of infant spasm (IS) and provide a theoretical basis for clinical diagnosis and treatment. MethodsCollected the clinical data of 116 IS cases in our hospital from May 2011 to December 2013, which conform to the diagnostic standard, and analysis its causes. ResultsIn the116 cases we collected, symptomatic IS is primarily for 78 cases (67.24%); the onset age of symptomatic IS within 6 months was 76.39% (55/72), higher than the rates of symptomatic IS beyond 6 months 52.27% (23/44) (P=0.007); The pathogenic factor in symptomatic IS, prenatal accounted for 48.72%, intrapartum factors accounted for 34.62%; for sexually transmitted diseases accounted for 47.44%, venereal disease accounted for 52.56%. In 78 cases of symptomatic IS, gender has no relation with its pathogenic factors; the onset age within 6 months of antepartum and intrapartum factor is significantly higher than the rates of symptomatic IS beyond 6 months (89.09% VS 69.57%); distribution between urban and rural areas and its pathogenic factors is related, prenatal factors of urban IS significantly lower than which in rural areas (38.30% VS 64.51%), intrapartum factor IS significantly higher than the rural IS (44.68% VS 19.35%). ConclusionThe cause of the IS given priority to with symptomatic, IS in the majority with, and prenatal or developmental factors in the higher flight in symptomatic, and the smaller of the onset age antepartum and intrapartum factor becomes more apparent, prenatal factors in the rural areas is higher than which in the unban areas, but intrapartum factor in the unban areas is higher than which in the rural areas. Magnetic resonance imaging (MRI) still plays an important role in etiology diagnosis.
Long-term chronic internal jugular vein (IJV) insufficiency, originally viewed as a non-pathological finding, may result in cerebral venous outflow disturbance, leading to cerebral venous ischemia and cerebral nervous functional disorders. In this article we discuss probable etiologies, symptoms, diagnosis and treatment of IJV disturbance, so as to provide some insights for clinicians.
Objective To review the research progress of alcohol-induced osteonecrosis of the femoral head (ONFH). Methods Recent literature concerning alcohol-induced ONFH was reviewed and summarized. Results Alcohol-induced ONFH accounte for approximately 1/3 of total ONFH. Alcohol intake and the incidence of ONFH has a significant dose-effect relationship. There are some correlations between alcohol-induced ONFH and lipid metabolism, secretion of corticosteroid, and some gene of alcohol or lipid metabolism. Conclusion The relationships between alcohol and lipid metabolism, and between alcohol and steroid are still the main direction of the research of ONFH. Gene level researches can not demonstrate the pathogenesis, therefore further research should be carried on.
Acute exacerbation of idiopathic pulmonary fibrosis (AE-IPF) is defined as an acute and clinically significant respiratory deterioration characterized by evidence of new, widespread alveolar abnormality. In the past, AE-IPF was considered to be idiopathic, which was hard to be prevented and its prognosis was hard to be obviously improved; the latest researches have shown that AE-IPF can be triggered by known causes, including pulmonary infection, aspiration, etc. This review summarizes the etiology or risk factors, treatment and prevention of AE-IPF according to the latest researches.
Primary osteoporosis is a severe social problem. It bothers the health of many aged people. Since May 1993, The doubleenergy density of bone test was carried out in postmenopausal women, among them, in 34 cases the concentration of estrogen, calcitonin parathyroidin, calcium and phosphorus in serum were examined. The results were as follows: the bone density decreased obviously while the serum calitonin and parathyroidun levels were high or low, was risen and fallen, but the serum calcium was higher than normal. Three types of osteoporosis in clinicspo stulated: 1.calcitonin and parathyroidin were normal or absent; 2.calcitonin was higher; 3.parathyroidin was higher. The treatment of the different types shouldbe individulized.
Atrial fibrillation （AF） as a most frequent arrhythmia has a high incidence of 79% in patients with mitral valve disease. Thrombosis, embolization and serious arrhythmia can be caused by AF. There is the recrudescent tendency in using drugs to recover the sinus rhythm, surgery and radio frequency ablation can only cure a part of patients. By now the pathogenesis of AF is not known clearly. The pathogenesis of AF from virulence gene, cardiac electrophysiology, connecxins, cell ultramicrostructure and cell signaling system are reviewed in this article.