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1.
Journal of Prevention and Treatment for Stomatological Diseases ; (12): 235-240, 2024.
Article in Chinese | WPRIM | ID: wpr-1006870

ABSTRACT

@#Risk assessment models for periodontal disease provide dentists with a precise and consolidated evaluation of the prognosis of periodontitis, enabling the formulation of personalized treatment plans. Periodontal risk assessment systems have been widely applied in clinical practice and research. The application fields of periodontal risk assessment systems vary based on the distinctions between clinical periodontal parameters and risk factors. The assessment models listed below are commonly used in clinical practice, including the periodontal risk calculator (PRC), which is an individual-based periodontal risk assessment tool that collects both periodontal and systemic information for prediction; the periodontal assessment tool (PAT), which allows for quantitative differentiation of stages of periodontal disease; the periodontal risk assessment (PRA) and modified periodontal risk assessment (mPRA), which are easy to use; and the classification and regression trees (CART), which assess the periodontal prognosis based on a single affected tooth. Additionally, there are orthodontic-periodontal combined risk assessment systems and implant periapical risk assessment systems tailored for patients needing multidisciplinary treatment. This review focuses on the current application status of periodontal risk assessment systems.

2.
São Paulo med. j ; 142(3): e2022578, 2024. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1450522

ABSTRACT

ABSTRACT BACKGROUND: Ankle taping (AT) is effective in preventing ankle sprain injuries in most common sports and is employed in rehabilitation and prevention sports. OBJECTIVE: This study aimed to investigate the effectiveness of AT to restricting excessive frontal plane ankle movements in semi-professional basketball players throughout the training session. DESIGN AND SETTING: A cross-sectional study was performed at the Universidad Europea de Madrid. METHODS: Forty male and female semi-professional basketball players were divided into two groups. The ankle dorsiflexion range of motion (ROM) and interlimb asymmetries in a weight-bearing lunge position were evaluated at four time points: 1) with no tape, 2) before practice, at 30 min of practice, and 3) immediately after practice. RESULTS: In male basketball players, no differences were observed in the right and left ankles between the baseline and 30 min and between baseline and 90 min of assessment. In female athletes, significant differences were reported between baseline and pre-training assessments for the right ankle and also significant differences between baseline and 90 min in both ankles. CONCLUSIONS: Ankle taping effectively decreased the ankle dorsiflexion ROM in male and female basketball players immediately after application. However, ROM restriction was very low after 30 and 90 min, as assessed in a single basketball practice. Therefore, the classic taping method should be revised to develop new prophylactic approaches, such as the implementation of semi-rigid bracing techniques or the addition of active stripes during training or game pauses.

3.
Med. infant ; 30(2): 191-197, Junio 2023. ilus
Article in Spanish | LILACS, UNISALUD, BINACIS | ID: biblio-1443762

ABSTRACT

Las enfermedades autoinflamatorias (AIDs) son un grupo heterogéneo de desórdenes monogénicos o poligénicos, con características de disregulación inmune innata y/o adaptativa, cuyo mecanismo central es la autoinflamación pero también pueden presentarse con autoinmunidad e inmunodeficiencia. En estos últimos años el desarrollo de las tecnologías de secuenciación masiva han provocado una explosión en el descubrimiento de nuevos genes responsables de AIDs monogénicas. Esto remarca la importancia de implementar este tipo de estudios para llegar a un diagnóstico definitivo sobre todo en este grupo de patologías genéticamente muy diversas donde los fenotipos clínicos se solapan. Sin embargo, dada la presencia de variantes de significación incierta (VUS), los resultados pueden no ser concluyentes planteándose la necesidad de desarrollar pruebas funcionales para determinar la patogenicidad de dichas variantes genéticas. En nuestro grupo de trabajo estamos aplicando la PCR digital en gotas (ddPCR), una técnica cuantitativa de 3era generación altamente sensible, especifica y reproducible que no necesita de curvas de calibración, para desarrollar pruebas funcionales que permitan no sólo reclasificar variantes VUS para lograr diagnósticos definitivos sino también estudiar los mecanismos responsables de las principales AIDs que permitan una estratificación de las terapéuticas especificas a aplicar y de esta manera poder contribuir al diagnóstico, tratamiento y seguimiento de nuestros pacientes en forma personalizada. (AU)


Autoinflammatory diseases (AIDs) are a heterogeneous group of monogenic or polygenic disorders, with characteristics of inborn and/or adaptive immune dysregulation, whose central mechanism is autoinflammation but may also present with autoimmunity and immunodeficiency. In recent years the development of massive sequencing technologies has led to an exponential increase in the discovery of new genes responsible for monogenic AIDs. This emphasizes the importance of the implementation of this type of studies to make a definitive diagnosis, especially in this group of genetically very diverse diseases with overlapping clinical phenotypes. However, given the presence of variants of uncertain significance (VUS), the results may not be conclusive, raising the need to develop functional tests to determine the pathogenicity of these genetic variants. In our working group we are applying droplet digital PCR (ddPCR), a highly sensitive, specific and reproducible third generation quantitative technique that does not require calibration curves, to develop functional tests that allow not only to reclassify VUS variants to achieve definitive diagnoses but also to study the mechanisms responsible for the main AIDs that allow for the stratification of specific treatments to be used and thereby contribute to the individualized diagnosis, treatment, and follow-up of our patients (AU)


Subject(s)
Humans , Male , Female , Child , Adolescent , Autoimmune Diseases/diagnosis , Therapeutics/instrumentation , Polymerase Chain Reaction/methods , Hereditary Autoinflammatory Diseases/diagnosis , Hereditary Autoinflammatory Diseases/genetics , High-Throughput Nucleotide Sequencing , Laboratories, Hospital
4.
Chinese Journal of Medical Instrumentation ; (6): 669-673, 2023.
Article in Chinese | WPRIM | ID: wpr-1010259

ABSTRACT

OBJECTIVE@#To interpret the key contents of the guidance of Personalized Medical Device Regulatory Pathways issued by the IMDRF, and provide reference for the improvement of China's medical device regulatory system.@*METHODS@#The regulatory requirements of personalized medical devices and point-of-care manufacture of medical device were described respectively, and the feasibility of implementing the regulation of point-of-care manufacture of medical device in China was analyzed.@*RESULTS@#The different regulatory pathways of medical devices produced at point-of-care are feasible and have different regulatory risks.@*CONCLUSIONS@#In combination with the recommendations provided by the IMDRF guidance and the clinical and regulatory realities in China, we should accelerate the improvement of the regulations and supporting documents for point-of-care manufacture of medical device in China.


Subject(s)
Commerce , Medical Device Legislation , China
5.
Acta Pharmaceutica Sinica ; (12): 2811-2817, 2023.
Article in Chinese | WPRIM | ID: wpr-999024

ABSTRACT

With the growing demand of personalized medicine for children, it is especially important to develop medicines for children. In this study, using metoprolol tartrate as model drug, we developed 3D printed chewable tablets suitable for children with automated dosage distribution using semi-solid extruded (SSE) 3D printing technology. Based on the quality by design concept, this study prepared a semi-solid material with good printability using gelatin as the substrate, constructed 3D models and printed tablets with the aid of computer-aided design. The printing parameters were optimized and determined as follows: print temperature of 35-37 ℃, print speed of 25 mm·s-1, fill rate of 15%, and number of outer profile layers of 2. Subsequently, the printing process and the quality uniformity of the tablets were verified, and a linear relationship between the dose and the number of model layers was obtained. Finally, 3D printed chewable tablets were superior in terms of appearance, dose accuracy and compliance compared with traditional split-dose commercially available tablets. In this study, 3D printed metoprolol tartrate chewable tablets with good performance were successfully prepared to address the personalized medication needs of pediatric patients.

6.
Chinese Journal of Neurology ; (12): 721-728, 2023.
Article in Chinese | WPRIM | ID: wpr-994888

ABSTRACT

Disease-modifying therapy (DMT), the dominating treatment for the remission stage of multiple sclerosis (MS), has reshaped the treatment situation of MS in China due to the increasing number of DMT drugs introduced since 2018. However, the current treatment status is still not satisfied because of the long-time lack of DMT drugs in the past and the latest advances in the diagnosis and treatment of MS. The treatment strategies and goals of MS advanced continuously attributed to the more clarified pathophysiology, more optional DMT drugs and more surveillance methods in disease progression and therapeutic efficacy combined with MRI and biomarkers,etc. Personalized treatment and follow-up protocol established on evidence based prognostication, drug and patient-related factors, probably will be one of the most optimal treatment algorithm in the future. Here is a comprehensive review on how to perform this personalized treatment based on national conditions.

7.
Chinese Journal of Medical Education Research ; (12): 942-946, 2023.
Article in Chinese | WPRIM | ID: wpr-991445

ABSTRACT

Objective:To understand the preferences of medical students for the performance, function and recommendation method of personalized learning resource recommendation system, as well as the correlation with the self-directed learning ability of medical students, so as to provide a reference for further building an effective learning platform and learning resource tool.Methods:A total of 482 first-year to third-year medical students in a medical university were selected as the research subjects. The electronic self-directed learning scale and the self-designed medical education learning resources recommendation system of performance, function and recommendation method scale were used to conduct a questionnaire survey. Pearson correlation analysis was used to explore the correlation between the performance, function and recommendation method preference of medical students' information resource recommendation system and self-directed learning ability.Results:Medical students had high demand and preference for learning [(4.35±0.58) points], accuracy [(4.32±0.62) points] and timeliness [(4.32±0.62) points] of learning resource recommendation system. In terms of the function of the recommendation system, the following [(4.10±0.71) points] and sharing [(3.94±0.82) points], and searching [(4.35±0.59) points], feedback [(4.09±0.73) points] and publication [(3.80±0.88) points] in the interactive function were all highly rated. For the preference of recommendation methods, the scores of discipline connection [(4.07±0.66) points] and time line [(4.02±0.74) points] were higher. The dimensions with high relevance to self-directed learning included timeliness ( r=0.367), social attributes ( r=0.361), and the basis of similar groups ( r=0.316). Conclusion:Medical students are familiar with and have a positive attitude towards the performance, functions and recommendation methods of the learning resource recommendation system, and have a cognitive foundation for the construction of the learning resource recommendation system and related resource platforms. This system has a certain correlation with the self-directed learning ability of medical students. Promoting the construction of medical education information resources is conducive to promoting the development of self-directed learning ability of medical students.

8.
International Journal of Biomedical Engineering ; (6): 360-364, 2023.
Article in Chinese | WPRIM | ID: wpr-989364

ABSTRACT

ICU acute respiratory distress syndrome has a high morbidity and mortality rate, and these patients usually need mechanical ventilation to maintain their respiratory function during treatment. However, improper setting of mechanical ventilation parameters may lead to ventilator-induced lung injury (VILI). In order to effectively prevent the occurrence of VILI, ARDSnet recommends the use of a protective ventilation strategy with low tidal volume and limited airway plateau pressure. However, from the perspective of ventilator energy transfer, VILI is actually the result of a combination of respiratory parameters such as tidal volume, airway pressure, and respiratory rate. The mechanical power well reflects the combined effect of the above parameters and is increasingly becoming a hot topic in clinical research. In this review paper, the definitions of mechanical energy and mechanical power were introduced, and the calculation methods of mechanical power under different respiratory modes are summarized. Moreover, the clinical studies related to mechanical power and VILI and further exploration of the safety threshold of mechanical power are reviewed. It is expected to provide new ideas for the future clinical development of personalized mechanical ventilation strategies and the effective prevention of VILI.

9.
Acta Pharmaceutica Sinica B ; (6): 4621-4637, 2023.
Article in English | WPRIM | ID: wpr-1011183

ABSTRACT

Hepatic stellate cells (HSCs) represent a significant component of hepatocellular carcinoma (HCC) microenvironments which play a critical role in tumor progression and drug resistance. Tumor-on-a-chip technology has provided a powerful in vitro platform to investigate the crosstalk between activated HSCs and HCC cells by mimicking physiological architecture with precise spatiotemporal control. Here we developed a tri-cell culture microfluidic chip to evaluate the impact of HSCs on HCC progression. On-chip analysis revealed activated HSCs contributed to endothelial invasion, HCC drug resistance and natural killer (NK) cell exhaustion. Cytokine array and RNA sequencing analysis were combined to indicate the iron-binding protein LIPOCALIN-2 (LCN-2) as a key factor in remodeling tumor microenvironments in the HCC-on-a-chip. LCN-2 targeted therapy demonstrated robust anti-tumor effects both in vitro 3D biomimetic chip and in vivo mouse model, including angiogenesis inhibition, sorafenib sensitivity promotion and NK-cell cytotoxicity enhancement. Taken together, the microfluidic platform exhibited obvious advantages in mimicking functional characteristics of tumor microenvironments and developing targeted therapies.

10.
Acta Pharmaceutica Sinica B ; (6): 3238-3251, 2023.
Article in English | WPRIM | ID: wpr-1011116

ABSTRACT

Emerging evidence has demonstrated the vital role of metabolism in various diseases or disorders. Metabolomics provides a comprehensive understanding of metabolism in biological systems. With advanced analytical techniques, metabolomics exhibits unprecedented significant value in basic drug research, including understanding disease mechanisms, identifying drug targets, and elucidating the mode of action of drugs. More importantly, metabolomics greatly accelerates the drug development process by predicting pharmacokinetics, pharmacodynamics, and drug response. In addition, metabolomics facilitates the exploration of drug repurposing and drug-drug interactions, as well as the development of personalized treatment strategies. Here, we briefly review the recent advances in technologies in metabolomics and update our knowledge of the applications of metabolomics in drug research and development.

11.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 190-199, 2023.
Article in Chinese | WPRIM | ID: wpr-972301

ABSTRACT

ObjectiveIn view of the standardization of clinical diagnosis and treatment of the acute abdomen and the inheritance of diagnosis and treatment experience of prestigious veteran traditional Chinese medicine(TCM) doctors, a diagnosis and treatment reasoning algorithm based on association rule mining under incomplete evidence(AMIE)+ random walk was proposed to provide information services and technical support for primary doctors by recommending personalized diagnosis and treatment plans based on medical records. MethodThe experience of diagnosis and treatment of acute abdomen of prestigious veteran TCM doctors and the text data of clinical diagnosis and treatment guidelines of integrated TCM and western medicine were collected to complete the task of knowledge extraction and construct acute abdomen knowledge graph based on Neo4j. On the basis of ontology-supported rule-based reasoning, the rule reasoning based on similar syndromes was used to expand the syndrome combinations whose Jaccard similarity was greater than the threshold in the syndrome recommendation results. The semantic path coverage algorithm was used to calculate the semantic similarity between the symptom nodes. The symptom nodes were divided into 10 categories, and the symptom nodes in the same category were extended. The random walk algorithm was used to search the symptom nodes connected with the syndrome, and the connection rules between the syndrome and symptom nodes were extended to realize the knowledge reasoning of AMIE+ random walk. ResultThe acute abdomen knowledge graph included 1 320 nodes and 2 464 relationships. According to the link prediction evaluation index of knowledge reasoning, the reasoning results of the three algorithms in the auxiliary diagnosis and treatment of acute abdomen were compared. The AMIE+ random walk algorithm complemented the knowledge graph by extending the similar syndrome connection rules and the syndrome-symptom connection rules. Compared with the knowledge reasoning algorithm based on ontology rules, the area under the curve (AUC) was 15.18% higher and the accuracy was 30.36% higher, which achieved more accurate and effective knowledge inference. ConclusionThis study used knowledge graph technology to visualize the diagnosis and treatment of acute abdomen with TCM and western medicine, assisting primary clinicians in intuitively viewing the diagnosis and treatment process and data relationship. The proposed diagnosis and treatment reasoning algorithm can realize the personalized diagnosis and treatment plan recommendation at the level of "disease-syndrome-diagnosis-treatment-prescription", which can assist primary doctors in disease diagnosis and treatment and clinical decision-making, contribute to the knowledge sharing and application of diagnosis and treatment experience and clinical guidelines of prestigious veteran TCM doctors, improve the level of primary clinical diagnosis and treatment, and promote the normalization and standardization of the diagnosis and treatment process of acute abdomen with integrated TCM and western medicine.

12.
Cancer Research on Prevention and Treatment ; (12): 1165-1173, 2023.
Article in Chinese | WPRIM | ID: wpr-1003795

ABSTRACT

Lymphoma refers to a group of heterogeneous malignancies originating from the reticuloendothelial and lymphatic systems. The clinical manifestations, treatment strategies, and disease outcomes of different types of lymphoma considerably vary. Recent developments in high-throughput sequencing technologies have enhanced understanding of the pathogenesis and molecular stratification of lymphoma. In the era of new drugs, precise stratification and targeted drug selection can not only improve the prognosis of patients with lymphoma but also reduce the toxic side effects of traditional chemotherapy, ultimately achieving the accurate diagnosis and individualized treatment of tumors. This article reviews the research progress of molecular diagnosis and individualized treatment of different lymphoma subtypes and lymphoma-related research in important meetings such as ASCO, EHA, and ICML in 2023.

13.
Journal of China Pharmaceutical University ; (6): 15-22, 2023.
Article in Chinese | WPRIM | ID: wpr-965246

ABSTRACT

@#With the rapid advancement of science and technology, the application of 3D printing technology for personalized drug manufacturing is becoming increasingly sophisticated.Compared to traditional manufacturing technology, 3D printing can easily customize preparations with specific sizes, shapes and release behaviors for personalized drug use.This review summarizes the principles of several 3D printing technologies commonly used in drug manufacturing, lists the unique advantages and application examples of 3D printing technology for pharmaceutical preparation, analyses the current research status and development trends of the global industry of drug 3D printing, and summarizes the current problems and challenges facing drug 3D printing, aiming to provide some guidance for researchers of 3D printed drugs.

14.
Journal of Prevention and Treatment for Stomatological Diseases ; (12): 381-388, 2023.
Article in Chinese | WPRIM | ID: wpr-964429

ABSTRACT

@#With the development of computer-aided surgery and rapid prototyping via 3D printing technology, digital surgery has rapidly advanced in clinical practice, especially in the field of oral and maxillofacial surgery. 3D printing technology has been applied to the functional restoration and reconstruction of the jawbone. Before surgery, a 3D digital model is constructed through software to plan the scope of the osteotomy, shape the bone graft and plan the placement of the implant. Additionally, 3D models of personalized surgical instrument guides are printed prior to surgery. With these 3D-printed models and guides, accurate excision of the jaw tumor, accurate placement of the grafted bone and precise placement of implants can be achieved during surgery. Postoperative evaluation of accuracy and function shows that 3D printing technology can aid in achieving the biomechanical goals of simultaneous implant placement in jaw reconstruction, and in combination with dental implant restoration, the technology can improve patients' postoperative occlusal and masticatory functions. Nevertheless, 3D printing technology still has limitations, such as time-consuming preparation before surgery. In the future, further development of 3D printing technology, optimization of surgical plans, and alternative biological materials are needed. Based on domestic and foreign literature and our research results, we have reviewed the process and clinical application prospects of jaw reconstruction via 3D printing technology to provide a reference for oral and maxillofacial surgeons.

15.
Chinese Journal of Reparative and Reconstructive Surgery ; (12): 833-838, 2023.
Article in Chinese | WPRIM | ID: wpr-981676

ABSTRACT

OBJECTIVE@#To investigate the effectiveness of anterior cruciate ligament (ACL) reconstruction assisted by personalized femoral locator based on the apex of deep cartilage (ADC) combined with patient imaging data.@*METHODS@#Between January 2021 and January 2022, a total of 40 patients with primary ACL rupture were selected and randomly divided into study group (ACL reconstruction assisted by personalized femoral locator based on ADC) and control group (ACL reconstruction assisted by intraoperative fluoroscopy and traditional femoral locator), with 20 cases in each group. There was no significant difference in gender, age, body mass index, affected side, cause of injury, and preoperative International Knee Documentation Committee (IKDC) score, Lyshlom score, and Tegner score between the two groups ( P>0.05). IKDC score, Lyshlom score, and Tegner score were used to evaluate the functional recovery of the affected knee before operation and at 3, 6, and 12 months after operation. CT scan and three-dimensional reconstruction were performed before and after operation to measure the horizontal distance from ADC to the anterior cartilage margin (L) and the horizontal distance from ADC to the center of the femoral canal (I), and the anteroposterior position of the bone canal (R) was calculated by I/L; the distance from the center to the distal cartilage margin (D) was measured on the two-dimensional cross section; the R value and D value were compared between the two groups.@*RESULTS@#The operation time of the study group was significantly less than that of the control group [ MD=-6.90 (-8.78, -5.03), P<0.001]. The incisions of the two groups healed by first intention, and no complication such as intra-articular infection, nerve injury, and deep vein thrombosis of lower limbs occurred. There was no significant difference in the R value and D value between the preoperative simulated positioning and the actual intraoperative positioning in the study group [ MD=0.52 (-2.85, 3.88), P=0.758; MD=0.36 (-0.39, 1.11), P=0.351]. There was no significant difference in the actual intraoperative positioning R value and D value between the study group and the control group [ MD=1.01 (-2.57, 4.58), P=0.573; MD=0.24 (-0.34, 0.82), P=0.411]. The patients in both groups were followed up 12-13 months (mean, 12.4 months). The IKDC score, Lysholm score, and Tegner score of the two groups increased gradually with time, and there were significant differences between pre- and post-operation ( P<0.05). There was no significant difference in the scores between the two groups at each time point after operation ( P>0.05).@*CONCLUSION@#The personalized femoral locator based on ADC can accurately assist the femoral tunnel positioning in ACL reconstruction, which can shorten the operation time when compared with traditional surgical methods, and achieve satisfactory early effectiveness.


Subject(s)
Humans , Anterior Cruciate Ligament Injuries/surgery , Anterior Cruciate Ligament Reconstruction/methods , Cartilage/surgery , Knee Joint/surgery , Treatment Outcome
16.
China Journal of Chinese Materia Medica ; (24): 1866-1875, 2023.
Article in Chinese | WPRIM | ID: wpr-981405

ABSTRACT

According to the method of predicting the physical properties of oily powder based on the additive physical properties of Chinese medicinal powder, Dioscoreae Rhizoma and calcined Ostreae Concha with high sieve rate and good fluidity were mixed and crushed with Persicae Semen, Platycladi Semen, Raphani Semen, Ziziphi Spinosae Semen, and other typical oily materials with high fatty oil content in proportion to obtain 23 mixed powders. Fifteen physical properties such as bulk density, water absorption, and maximum torque force were measured, and the physical properties of typical oily powders were predicted. When the mixing and grinding ratio was in the range of 5∶1-1∶1, the r value in the correlation equation between the weighted average score of the mixed powder and the powder proportion ranged from 0.801 to 0.986, and the linearity was good, indicating that the method of predicting the physical properties of oily powder based on the additive physical properties of traditional Chinese medicine(TCM)powder was feasible. The results of cluster analysis showed that the classification boundaries of the five kinds of TCM materials were clear, and the similarity of the physical fingerprints of powdery and oily materials decreased from 80.6% to 37.2%, which solved the problem of fuzzy classification boundaries of powdery and oily materials due to the lack of representativeness of oily material model drugs. The classification of TCM materials was optimized, laying a foundation for optimizing the prediction model of the prescription of personalized water-paste pills.


Subject(s)
Medicine, Chinese Traditional , Drugs, Chinese Herbal , Powders , Prescriptions
17.
China Tropical Medicine ; (12): 76-2023.
Article in Chinese | WPRIM | ID: wpr-979591

ABSTRACT

@#Abstract: Objective To explore the accurate diagnosis of children with suspected rare inherited metabolic diseases, and to compare the application value of mass spectrometry and genetic testing in the diagnosis of rare inherited metabolic diseases (IMD). Methods The clinical information, mass spectrometry, and genetic results of children with suspected rare inherited metabolic diseases admitted to the Department of Pediatrics, the Affiliated Haikou Hospital of Xiangya Medical College, Central South University from March 2017 to December 2021 were analyzed retrospectively. Results 156 children with suspected rare inherited metabolic diseases were detected by mass spectrometry, 67 cases were positive and 89 cases were negative. Children with positive initial examination were retested, and 19 cases were positive. Among the retest positive cases, 13 cases were given genetic testing, and 9 cases were positive and 4 cases were negative. Among the initial negative cases, 54 children with poor therapeutic effect and high clinical suspicion of inherited metabolic diseases completed genetic testing, 15 cases were positive and 39 cases were negative. The results of the two detection methods were compared, the positive rate of mass spectrometry was 19.4%(13/67), and the positive rate of genetic testing was 35.8%(24/67). The continuity correction of Pearson's chi-square test of continuity correction suggested that the results of genetic testing and mass spectrometry were different, and the difference was statistically significant (P<0.05). Taking genetic testing as the gold standard, the sensitivity and specificity of mass spectrometry detection were 37.5% (95%CI:19.6%-59.2%) and 90.7% (95%CI:76.9%-97.0%), respectively. Among the 24 confirmed cases, 5 cases were diagnosed by gene panel and 19 cases were diagnosed by whole exome sequencing (WES). One case diagnosed by WES had no pathogenic mutation detected by gene panel before diagnosis. The detection of DNM1L gene c.1040C>G and AMN gene c.651+1G>C are novel pathogenic gene variants, which have clinical significance. Conclusions The ability of mass spectrometry in the diagnosis of inherited metabolic diseases is limited. Genetic testing, especially whole exome sequencing, can be the first choice for individualized diagnosis of suspected rare inherited metabolic diseases. In addition, the new mutation sites found by WES in this study enriched the pathogenic gene mutation spectrum and provided direction for further functional biological experiments.

18.
Journal of Southern Medical University ; (12): 1047-1050, 2023.
Article in Chinese | WPRIM | ID: wpr-987021

ABSTRACT

OBJECTIVE@#To evaluate the value of pharmacogenetic testing for improving the efficacy and safety of treatment with cyclosporine, tacrolimus, and cyclophosphamide (CTX) for PLA2R-related membranous nephropathy and for determing individualized and precise treatment plans for the patients.@*METHODS@#A total of 63 patients with PLA2R-related membranous nephropathy hospitalized in the Department of Nephrology at our hospital from January, 2019 to October, 2021 were enrolled in this study. Thirty-three of the patients underwent pharmacogenetic testing before taking the immunosuppressive drugs selected based on the results of genetic screening for sensitive targets, and the other 30 patients were empirically given immunosuppressive drugs according to the guidelines (control group). The clinical efficacy and adverse effects of the immunosuppressive drugs were analyzed for all the patients. The two groups of patients were compared for demographic and biochemical parameters including 24-h urine protein, serum albumin, renal function, and serum anti-phospholipase A2 receptor antibody both before and at 3 months after the beginning of the treatment.@*RESULTS@#Among the 33 patients undergoing pharmacogenetic testing, 51.5% showed a GG genotype for cyclosporine, and 61.6% had an AG genotype for tacrolimus; for CTX, 51.5% of the patients showed a homozygous deletion and 63.6% had an AA genotype. After treatment for 3 months, serum anti-phospholipase A2 receptor antibody, 24-h urine protein, and serum albumin levels were significantly improved in pharmacogenetic testing group as compared with the control group (P < 0.05).@*CONCLUSION@#Individualized and precise administration of immunosuppressive drugs based on pharmacogenetic testing better controls proteinuria and serum antiphospholipase A2 receptor antibodies and increases serum albumin level in patients with PLA2R-related membranous nephropathy.


Subject(s)
Humans , Autoantibodies , Cyclosporine/therapeutic use , Glomerulonephritis, Membranous/diagnosis , Homozygote , Immunosuppressive Agents/therapeutic use , Pharmacogenomic Testing , Receptors, Phospholipase A2 , Sequence Deletion , Serum Albumin , Tacrolimus/therapeutic use
19.
Cancer Research on Prevention and Treatment ; (12): 437-441, 2023.
Article in Chinese | WPRIM | ID: wpr-986213

ABSTRACT

In the past two decades, the survival of HER2-positive early-stage breast cancer patients has significantly improved with the development of HER2-targeted therapies. The focus has been placed on maximizing the clinical benefit of HER2-positive early-stage breast cancer by optimizing the treatment frameworks and therapeutic strategies in this field. In this paper, several important clinical studies of HER2-positive early-stage breast cancer in the neoadjuvant or adjuvant settings will be summarized and analyzed to provide clues for the development of personalized treatment strategies in the future.

20.
Journal of Biomedical Engineering ; (6): 1093-1101, 2023.
Article in Chinese | WPRIM | ID: wpr-1008938

ABSTRACT

Rapid and accurate identification and effective non-drug intervention are the worldwide challenges in the field of depression. Electroencephalogram (EEG) signals contain rich quantitative markers of depression, but whole-brain EEG signals acquisition process is too complicated to be applied on a large-scale population. Based on the wearable frontal lobe EEG monitoring device developed by the authors' laboratory, this study discussed the application of wearable EEG signal in depression recognition and intervention. The technical principle of wearable EEG signals monitoring device and the commonly used wearable EEG devices were introduced. Key technologies for wearable EEG signals-based depression recognition and the existing technical limitations were reviewed and discussed. Finally, a closed-loop brain-computer music interface system for personalized depression intervention was proposed, and the technical challenges were further discussed. This review paper may contribute to the transformation of relevant theories and technologies from basic research to application, and further advance the process of depression screening and personalized intervention.


Subject(s)
Humans , Algorithms , Depression/therapy , Music , Music Therapy , Electroencephalography , Wearable Electronic Devices
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