ObjectiveMitochondrial encephalomyopathy is a series of diseases that drag in central nervous system and generalized muscles. The pathogenesis of the disease is lack of ATP for the dysfunction of mitochondria. The misdiagnosis rate of the disease is high and the purpose of this study is to improve the recognition and diagnosis of mitochondrial encephalomyopathy and thus, clinicians could take rational treatment in time and improve patients' prognosis. MethodsThe clinical data of 11 patients with mitochondrial encephalomyopathy were analyzed including the physical data, clinical presentations, laboratory data, neuroimaging findings, muscle biopsy, genetic testing, treatment and prognosis. Reviewing literature and summarizing the clinical characteristics of mitochondrial encephalomyopathy. ResultsAmong the 11 patients with mitochondrial encephalomyopathy, the mean age was 17 years old. 1 case had family history. 7 cases were misdiagnosed in the first clinic visit. The onset of the 11 cases, 9 were paroxysmal and 2 were hidden. In the course, 10 cases had an epileptic seizure. Among the 9 cases who took the determination of serum lactate, 8 was in high level.9 cases had MRI examination and all found abnormality, 10 patients had EEG examination, and 9 cases found abnormality, 6 cases had muscle biopsy and all found the ragged red fiber(RRF). 6 cases had molecular genetic testing, and all found mutations in mitochondrial DNA. Among the 10 cases who had epileptic seizure, 3 cases can be controlled with single kind of antiepileptic drug. The other 7 cases had a recurrence of epilepsy with single kind of antiepileptic drugs, but can be cotrolled after drug adjusting or drug combination. ConclusionMitochondrial encephalomyopathy is often accompanied by seizure, which is usually found in children, and also often accompanied by systemic muscle symptoms. The clinical manifestations of the disease is not typical, but is complex and varied symptoms, so the clinical misdiagnosis rate is high. Mitochondrial encephalomyopathy mainly involves the main intracranial artery distribution area (parietal lobe, temporal lobe, occipital lobe, etc.) in central nervous system, and can involve more than one part. Patients with mitochondrial myopathy brain are usually detected the elevation of serum lactate levels, but if the lactic acid level is normal, it does not rule out the possibility of the disease, the confirmation of the disease is mainly by muscle biopsy or genetic tests. There is no specific treatment for mitochondrial encephalomyopathy till now, and it still give priority to symptomatic treatment. And the prognosis is poorer.
Objective To study the latest research progress of the formation mechanism of cholesterol stone disease and forming factors of cholesterol stone disease and to provide new theoretical level and develop a new development direction for guiding clinical application. Methods The related literatures at home and abroad were analyzed, compared and summarized, and the current relevant research dynamic of cholesterol stone disease was sketched. Results The formation of cholesterol gallstone is closely related to the abnormal levels of serum lipids metabolism, bacterial and viral infection, and the expression of genes related to cholesterol gallstone. Conclusions The formation of cholesterol calculus disease is a kind of interaction and intricate disease process involving of environmental factors, genetic factors, and biological factors. Although there has been a lot of blood lipid, protein correlation research with cholesterol stone, there are also many studies such as using gene transplantation and gene knockout, but gene technology of cholesterol stone disease diagnosis and treatment is expected to become the new hot research topic.
Paediatric retinal disease is the most important part of paediatric ophthalmology. It usually manifests as leukocoria or yellow pupil, typically in retinopathy of prematurity, familial exudative vitreoretinopathy, persistent hyperplastic primary vitreous, Coats disease and retinoblastoma. It also can be manifested as nystamus poor visual fixation or progressive worsening of visual function, typically in Leber congenital amaurosis, Stargardt disease, Best disease and cone and rod dystrophy. Paediatric retinal diseases can be roughly divided into acquired, hereditary and congenital developmental abnormalities. With the development of gene and stem cell technologies, the advent of new medicine, equipments and new techniques, the concept of diagnosis and treatment in paediatric retinal diseases is also changing. In China, the level is improving progressively in both clinical and research areas of paediatric retinal diseases.
ObjectivesTo provide a reference for the evaluation procedures of genetic testing technology applicable to China by combining the existing evaluation frameworks and procedures for genetic testing techniques globally, and also put forward design suggestions for the construction of evaluation procedures in China.MethodsThe literature research method was primarily used to summarize different evaluation progress, as well as put forward design suggestions.ResultsAt present, numerous developed countries have organized genetic testing technology evaluation projects. The various evaluation frameworks developed were based on the ACCE or HTA framework. The evaluation and decision-making procedures were similar in general, including topic selection, evaluation implementation, results reporting and making recommendations. However, there still remained difficulties such as limited evidence and uncertainty in decision-making.ConclusionsTo establish the procedures of genetic testing technology applicable in China, the following specific procedures are recommended: selecting target genetic testing technology topics; analyzing necessity and feasibility of target testing technology evaluation; evaluating and reviewing the evidence; applying results and decision-making transformation; developing regular review and revision mechanisms.
Inherited eye disease is a heterogeneous group of eye disorders caused by genetic defects, which has many genetic characteristics, such as multiple inheritance modes and numerous gene variation types. Over the past few decades, genetic testing has improved significantly, with more and more known disease-causing gene variants identified. With the rapid development of high-throughput sequencing technology, clinical diagnosis and treatment of eye genetic diseases have been accelerated, and molecular diagnosis of eye genetic diseases has become an important step in accurate diagnosis and treatment. How to correctly select and evaluate each kind of genetic testing technology, reasonably standardize the use of genetic testing technology, and provide patients with more accurate genetic counseling are problem that clinicians need to seriously consider.
Inherited retinal diseases (IRD) are a group of genetic disorders with high genetic and clinical heterogeneity. Patients with IRD may have their clinical diagnosis confirmed by genetic testing. Over the past 30 years, rapid advances in molecular genetics have raised the disease-causing gene variant detection rate and the accuracy of genetic testing, which provide hope to patients. The genetic diagnosis of patients with IRD is complicated due to the overlapping clinical phenotypes, and the fact that different variants lead to different phenotypes and severity even of the same gene. It is very important to overall evaluate the clinical phenotype of patients, precisely select genetic testing methods, and reasonably define disease-causing genes and variants during genetic diagnosis, which can guide the patient's subsequent treatment and provide genetic counseling.