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.
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.
ObjectiveTo investigate diagnosis, gene detection, and treatment principle of medullary thyroid carcinoma.Method The relevant literatures and guidelines about diagnosis and treatment of medullary thyroid carcinoma were summarized and analyzed retrospectively. Resultsmedullary thyroid carcinoma was given priority to surgical treatment. hereditary medullary cancer could be prophylactic thyroidectomy by the RET gene test results. advanced progressive medullary thyroid carcinoma, could be treated by palliative surgery, external radiotherapy, or systemic treatment with the tyrosine kinase inhibitor. ConclusionsPrognosis of medullary thyroid carcinoma is worse, and occurrence of early metastasis is easy. so the first operation should be thoroughgoing. and the operation timing of prophylactic total thyroidectomy for hereditary medullary cancer could be determined by the results of RET gene detection to achieving early cure.
ObjectiveTo suggest the importance of taking notice of oral chemotherapy drugs in cancer patients, and the importance of drug-use evaluation in patients with insufficient kidney functions, by reporting one death case caused by multiple organ failure because of myelosuppression after oral tegafur, gimeracil and oteracil potassium (S-1) capsules for 10 days in a patient with insufficient kidney functions. MethodsThrough the analysis of one patient who died of multiple organ failure due to degree-Ⅳ myelosuppression and the related literature review, we discussed the necessity of individualized administration of clinical chemotherapy. ResultsThe patient had grade-Ⅱ renal insufficiency before chemotherapy and did not undergo dihydropyrimidine dehydrogenase (DPYD) gene test. Myelosuppression occurred 10 days after oral chemotherapy drugs. The white blood cells, neutrophils and platelets decreased progressively, and then developed into degree-Ⅳ suppression. Finally the patient died of multiple organ failure. Conclusions Genetic variation and renal insufficiency may cause differences in drug metabolism. The reduced urinary excretion of guimet pyrimidine (CDHP), the inhibitors of dihydropyrimidine dehydrogenase which is the 5-fluorouracil (5-FU) metabolic enzyme, may lead to elevated plasma concentration of 5-FU, thereby increasing myelosuppression and other adverse reactions. If DPYD gene detection results show low enzyme activity, it can cause lethal toxicity through deceleration of 5-FU metabolism and high concentration of blood. DPYD gene dzetection should be performed if allowed, and individualized treatment plan should be formulated after comprehensive evaluation. The overall situation of the patients should be considered before treatment, and then individualized drugs should be administered.
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.
Heritable aortic disease (HAD) is characterized by thoracic aortic aneurysm/dissection with strong genetic predisposition and high clinical phenotypic heterogeneity. HAD is one of the main causes of sudden death. Early diagnosis of this disease is difficult because of atypical clinical symptoms, leading to the deterioration of disease with the development of aortic aneurysm, aortic dissection or sudden death. Genetic testing plays an important role in the early diagnosis, standardized follow-up, screening of family members, genetic counseling and individualized treatment of HAD. This review was focused on the application of genetic testing in the standardized diagnosis and treatment of HAD.
Precision medicine is a medical paradigm founded on individual genetic information amalgamated with extensive clinical data to offer patients precise diagnoses and treatments. Genetic testing forms the cornerstone of accurate diagnosis, and skilled professionals in fields like clinical medicine, molecular biology, and bioinformatics play a crucial role in realizing the potential of precision medicine. This paper presents reference suggestions for the continuing education approach for relevant technical personnel. The main emphasis is on conducting routine face-to-face and hands-on training to enhance theoretical knowledge and professional skills. Secondly, there is a need to modify the training approach by reinforcing molecular biology, bioinformatics, and other courses, enhancing assessment methods, gradually implementing specialized training in precision medicine subspecialties, and ensuring effective clinical practice and management of precision medicine.