Nanophthalmos (NNO) is a hereditary, congenital, ocular developmental disorder characterized by shortening of the entire eyeball.It has a low incidence worldwide and is considered a rare disease.Genetic modes of nanophthalmos include autosomal dominant and recessive inheritance, and sporadic cases have also been reported.Currently, at least six genes, including PRSS56, MFRP, TMEM98, MYRF, CRB1 and BEST1, have been reported to be associated with the onset of this disease.Common pathological phenotypes include short axial length, high hyperopia, and a high tendency to be complicated by angle-closure glaucoma and uveal effusion syndrome, etc.Different NNO genotypes show significant differences in clinical phenotypes.Studies on the correlation between NNO genotypes and phenotypes have provided an important basis for early clinical intervention.However, due to the limitated sample size of rare diseases, existing studies mainly focus on exploring the variant sites of different genotypes and the clinical phenotypes of patients.It is difficult to form a discussion on the overall correlation between the phenotypes and genotypes of NNO.This article collects and sorts out the research reports on NNO from 2010 to 2024, aiming to review the research progress on the correlation between genotypes and phenotypes of NNO from aspects such as gene mutation types and regional populations, in order to improve the understanding of NNO and provide more ideas and theoretical basis for studying its occurrence and development as well as gene therapy.

Thyrotoxic periodic paralysis(TPP) is a rare but potentially life-threatening complication of thyrotoxicosis. TPP secondary to thyrotoxicosis factitia(TF) is exceptionally uncommon. Here, we report the case of a 31-year-old female who developed TF and subsequent TPP after taking laxatives containing unknown ingredients. The patient presented with acute onset of quadriplegia. Laboratory investigations revealed severe hypokalemia(serum potassium 1.47mmol/L), thyrotoxicosis[thyroid stimulating hormone(TSH)<0.005 mIU/L, free thyroxine(FT 4) 30.84 pmol/L, free triiodothyronine(FT 3) 7.71 pmol/L], and a decreased thyroglobulin level(3.08 ng/mL). The patient′s symptoms resolved rapidly following potassium supplementation, and thyroid function gradually normalized after discontinuation of the suspected medication. This case highlights the importance of considering TF in the differential diagnosis of TPP, particularly in patients with a history of unknown medication use. It also underscores the diagnostic value of thyroglobulin measurement in identifying TF and outlines clinical strategies for the management of TF-induced TPP.

Objective To explore the effectiveness and safety of polyglycolic acid(PGA)and hydroxypropyl methylcellulose(HPMC)composite materials for suturing after canine sleeve gastrectomy.Methods A total of 36 healthy Beagle dogs were randomly divided into experimental group and control group in a 1∶1 male-to-female ratio.The experimental group underwent gastric sleeve resection with PGA+HPMC composite material for suture reinforcement,while the control group used NV-ET-M60E-2 suture material.Postoperative monitoring included survival status,food intake,and body temperature changes.Venous blood samples were collected before surgery,3 days after surgery,and before euthanasia for routine blood tests.At 2,4,and 8 weeks postoperatively,six dogs were euthanized at each time point for histological examination,hard tissue pathological evaluation,and safety assessment of the heart,liver,spleen,lungs,and kidneys.Results There were no significant differences in blood routine test results between the control group and the experimental group(P＞0.05).Before dissection,the percentage of basophils was significantly higher in the control group than in the experimental group(P=0.015).At 2 weeks after surgery,the severity of liver cell edema in the control group was higher than in the experimental group(P=0.036).However,the two groups did not significantly differ in the histological examination results of the heart,liver,spleen,lungs,or kidneys at other time points(P＞0.05).Hard tissue pathological slice results at 2,4,and 8 weeks after surgery showed no material residue in either group by the 8th week,and there were no significant differences in inflammation and necrosis scores or fibrosis/fat infiltration totals between the two groups(P＞0.05).Inflammation scores and fibrosis/fat infiltration totals at 8 weeks post-operation were significantly lower than those at 2 weeks post-operation(P＜0.05).During the experiment,no near-death phenomena occurred in either group,and no fever or refusal to eat was observed within 3 days after surgery.At dissection,the Beagle dogs appeared normal with glossy fur and no abnormal secretions.Conclusion PGA+HPMC composite materials can be effectively degraded and used as non-toxic suture fixation materials for wound suturing after sleeve gastrectomy,providing a theoretical basis for their clinical application.

Objective To evaluate the effectiveness of different tip positions applied to midline catheters(MC)and provide evidence-based evidence for venous catheter tip positioning in clinical practice.Methods Computerized searches of PubMed,Web of Science,Embase,Cochrane Library,CINAHL,CNKI,Wanfang Database,VIP,and CBM for studies on the effectiveness of applying MC with different tip positions were performed from the time of database construction to July 2024.Meta-analysis was performed using Rev Man 5.3 software after 2 investigators independently screened the studies,extracted the information and evaluated the quality of the included studies.Results A total of 9 studies with 2 302 hospitalized patients were included.The quality evaluation results of the included studies are all B-level.Meta-analysis showed that when the tip of the MC was located in the subclavian vein compared with the tip of the MC in the axillary vein,the rate of total catheter-related complications,phlebitis,blood leakage,infiltration,catheter occlusion,catheter dislocation,and catheter-associated thrombosis were lower,with a statistically significant difference(P＜0.05).When the tip of the MC was located in the subclavian vein compared with the tip of the MC in the axillary vein,the catheter retention time was longer,with a statistically significant difference(P=0.007).The descriptive analysis showed a lower rate of extubation due to complications when the tip of the MC was located in the subclavian vein compared with when the tip was located in the axillary vein(P＜0.05).Conclusion When the tip of the MC is located in the subclavian vein compared to when it is located in the axillary vein,the incidence of total catheter-related complications,phlebitis,blood leakage,infiltration,catheter occlusion,catheter dislocation,catheter-associated thrombosis,and the rate of catheter extractions due to complications were lower,and the catheter was left in place for a longer period of time.Due to the limitations of the quantity and quality of the included studies,more large-sample,high-quality studies are needed to further validate the effectiveness of different tip positions of MC.

Objective:This study aimed to analyze the genetic variation of the human papillomavirus (HPV) type 39 genomes and to predict and screen the dominant T-cell and B-cell epitopes of the viral early proteins (E1, E2, E6, E7) and late proteins (L1, L2).Methods:A total of 70 full-length sequences of HPV39 variants were retrieved from the clinical samples and the National Center for Biotechnology Information (NCBI) to construct a phylogenetic tree, analyze genetic polymorphisms, and predict the physicochemical properties of the viral proteins. Next, T-cell and B-cell epitopes were predicted using IEDB and ABCpred, and potential dominant epitopes were further selected based on parameters such as the secondary structure of the epitope region, peptide flexibility, hydrophilicity, surface accessibility and antigenicity. Finally, a homology analysis of the potential dominant epitopes was performed with 12 high-risk HPV types.Results:HPV39 variants from different sources can be clustered into two lineages (A and B), each exhibiting distinct mutation patterns. The mutation rate was the highest in E7 and the lowest in E1 among the different viral genes. However, these nucleotide/amino acid mutations did not significantly impact the physicochemical properties of the viral proteins. After prediction and screening, 5 and 6 potential dominant B-cell epitopes were identified in both L1 and L2, respectively. E1, E2, E6, and E7 yielded 18, 10, 4, and 1 potential dominant HLA-I restricted T-cell epitopes, respectively. Additionally, E1, E2, and E6 yielded 7, 3, and 2 potential dominant HLA-II restricted T-cell epitopes, respectively. Homology analysis indicated that T-cell dominant epitopes in E1, E2, and E6, as well as B-cell epitopes in L2, showed high homology (93%-100%) with HPV68, HPV33, HPV45, and HPV59.Conclusions:Bioinformatics analysis and prediction revealed that HPV39 variants can be clustered into two main evolutionary branches, A and B, each exhibiting a specific mutation pattern. The viral proteins contain potential dominant T-cell and B-cell epitopes that can be further investigated, providing valuable theoretical support for the development of HPV39-related peptide-based vaccines and therapeutics.

Objective To evaluate the relationship between systemic inflammation makers and bone mineral density(BMD)in male patients with type 2 diabetes(T2DM).Methods A total of 261 male patients with T2DM were selected and divided into three groups based on diagnostic criteria:the normal bone mass group(96 cases),the reduced bone mass group(111 cases)and the osteoporosis group(54 cases).Differences in systemic inflammation markers and bone metabolic markers were compared between the three groups.Multivariate ordered Logistic regression analysis was used to investigate factors influencing the progression from normal bone mass to osteoporosis in male patients with T2DM.Receiver operating characteristic(ROC)curves were used to evaluate the predictive value of inflammatory markers for osteoporosis in male patients with T2DM.Correlation analysis was conducted to investigate the correlation between inflammatory markers and BMD and bone turnover markers(BTM)in male patients with T2DM.Results Platelet count(PLT),platelet-to-lymphocyte ratio(PLR),systemic inflammatory index(SII)and neutrophil-to-lymphocyte ratio(NLR)were significantly higher in the osteoporosis group than those in the normal bone mass group(P＜0.05).Multivariate ordered Logistic regression analysis showed that PLR and SII were risk factors for the progression from normal bone mass to osteoporosis in male patients with T2DM(P＜0.05).The area under the ROC curve of PLR was 0.590,and the cut-off value was 96.67.The area under the curve of SII was 0.613,with a cut-off value of 307.9,and the area under the combined curve of the above two indicators was 0.612.In patients with osteoporosis and osteopenia,SII,PLR and PLT were negatively correlated with L1-4 BMD and left hip BMD(P＜0.05).SII was also negatively correlated with left femoral neck BMD(P＜0.05).Conclusion Inflammatory markers PLR and SII have predictive values for the progression from normal bone mass to bone loss and osteoporosis in male patients with T2DM.

Thyrotoxic periodic paralysis(TPP) is a rare but potentially life-threatening complication of thyrotoxicosis. TPP secondary to thyrotoxicosis factitia(TF) is exceptionally uncommon. Here, we report the case of a 31-year-old female who developed TF and subsequent TPP after taking laxatives containing unknown ingredients. The patient presented with acute onset of quadriplegia. Laboratory investigations revealed severe hypokalemia(serum potassium 1.47mmol/L), thyrotoxicosis[thyroid stimulating hormone(TSH)<0.005 mIU/L, free thyroxine(FT 4) 30.84 pmol/L, free triiodothyronine(FT 3) 7.71 pmol/L], and a decreased thyroglobulin level(3.08 ng/mL). The patient′s symptoms resolved rapidly following potassium supplementation, and thyroid function gradually normalized after discontinuation of the suspected medication. This case highlights the importance of considering TF in the differential diagnosis of TPP, particularly in patients with a history of unknown medication use. It also underscores the diagnostic value of thyroglobulin measurement in identifying TF and outlines clinical strategies for the management of TF-induced TPP.

The purpose of this paper is to explore the decoction and dosing methods of rhubarb root and rhizome in classical prescriptions and to provide a reference basis for the clinical use of rhubarb root and rhizome. By collating the relevant classical prescriptions of rhubarb root and rhizome in Shanghan Lun and Jingui Yaolüe, the relationship between its decoction and dosing methods and the syndrome was analyzed. The decoction of rhubarb root and rhizome in classical prescriptions can be divided into three categories: simultaneous decoction, decoction later, and other methods (impregnation in Mafei decoction, decoction with water from the well spring first taken in the morning, and pills). If it enters the blood level or wants to slow down, rhubarb root and rhizome should be decocted at the same time with other drugs. If it enters the qi level and wants to speed up, rhubarb root and rhizome should be decocted later. If it wants to upwardly move, rhubarb root and rhizome should be immersed in Mafei decoction. If it wants to suppress liver yang, rhubarb root and rhizome should be decocted with water from the well spring first taken in the morning. If the disease is prolonged, rhubarb root and rhizome should be taken in pill form. The dosing methods of rhubarb root and rhizome can be divided into five categories: draught, twice, three times, before meals, and unspecified. For acute and serious illnesses with excess of pathogenic qi and adequate vital qi, we choose draught. For gastrointestinal diseases, we choose to take the medicine twice. For achieving a moderate and long-lasting effect, we choose to take the medicine three times. If the disease is located in the lower part of the heart and abdomen, we choose to take it before meals. The use of rhubarb root and rhizome in clinical practice requires the selection of the appropriate decoction and dosing methods according to the location of the disease, the severity of the disease, the patient′s constitution, and the condition after taking the medicine.

ObjectiveTo elucidate the critical role of rehabilitation medical records (including electronic records) in rehabilitation medicine's clinical practice and management, comprehensively analyzed the structure, core content and data standards of rehabilitation medical records, to develop a standardized medical record data architecture and core dataset suitable for rehabilitation medicine and to explore the application of rehabilitation data in performance evaluation and payment. MethodsBased on the regulatory documents Basic Specifications for Medical Record Writing and Basic Specifications for Electronic Medical Records (Trial) issued by National Health Commission of China, and referencing the World Health Organization (WHO) Family of International Classifications (WHO-FICs) classifications, International Classification of Diseases (ICD-10/ICD-11), International Classification of Functioning, Disability and Health (ICF), and International Classification of Health Interventions (ICHI Beta-3), this study constructed the data architecture, core content and data standards for rehabilitation medical records. Furthermore, it explored the application of rehabilitation record summary sheets (home page) data in rehabilitation medical statistics and payment methods, including Diagnosis-related Groups (DRG), Diagnosis-Intervention Packet (DIP) and Case Mix Index. ResultsThis study proposed a systematic standard framework for rehabilitation medical records, covering key components such as patient demographics, rehabilitation diagnosis, functional assessment, rehabilitation treatment prescriptions, progress evaluations and discharge summaries. The research analyzed the systematic application methods and data standards of ICD-10/ICD-11, ICF and ICHI Beta-3 in the fields of medical record terminology, coding and assessment. Constructing a standardized data structure and data standards for rehabilitation medical records can significantly improve the quality of data reporting based on the medical record summary sheet, thereby enhancing the quality control of rehabilitation services, effectively supporting the optimization of rehabilitation medical insurance payment mechanisms, and contributing to the establishment of rehabilitation medical performance evaluation and payment based on DRG and DIP. ConclusionStructured rehabilitation records and data standardization are crucial tools for quality control in rehabilitation. Systematically applying the three reference classifications of the WHO-FICs, and aligning with national medical record and electronic health record specifications, facilitate the development of a standardized rehabilitation record architecture and core dataset. Standardizing rehabilitation care pathways based on the ICF methodology, and developing ICF- and ICD-11-based rehabilitation assessment tools, auxiliary diagnostic and therapeutic systems, and supporting terminology and coding systems, can effectively enhance the quality of rehabilitation records and enable interoperability and sharing of rehabilitation data with other medical data, ultimately improving the quality and safety of rehabilitation services.

ObjectiveTo explore the data standard system of electronic medical records in the field of rehabilitation, focusing on the terminology and coding standards, data structure, and key content categories of rehabilitation electronic medical records. MethodsBased on the Administrative Norms for the Application of Electronic Medical Records issued by the National Health Commission of China, the electronic medical record standard architecture issued by the International Organization for Standardization and Health Level Seven (HL7), the framework of the World Health Organization Family of International Classifications (WHO-FICs), Basic Architecture and Data Standards of Electronic Medical Records, Basic Data Set of Electronic Medical Records, and Specifications for Sharing Documents of Electronic Medical Records, the study constructed and organized the data structure, content, and data standards of rehabilitation electronic medical records. ResultsThe data structure of rehabilitation electronic medical records should strictly follow the structure of electronic medical records, including four levels (clinical document, document section, data set and data element) and four major content areas (basic information, diagnostic information, intervention information and cost information). Rehabilitation electronic medical records further integrated information related to rehabilitation needs and characteristics, emphasizing rehabilitation treatment, into clinical information. By fully applying the WHO-FICs reference classifications, rehabilitation electronic medical records could establish a standardized framework, diagnostic criteria, functional description tools, coding tools and terminology index tools for the coding, indexing, functional description, and analysis and interpretation of diseases and health problems. The study elaborated on the data structure and content categories of rehabilitation electronic medical records in four major categories, refined the granularity of reporting rehabilitation content in electronic medical records, and provided detailed data reporting guidance for rehabilitation electronic medical records. ConclusionThe standardization of rehabilitation electronic medical records is significant for improving the quality of rehabilitation medical services and promoting the rehabilitation process of patients. The development of rehabilitation electronic medical records must be based on the national and international standards. Under the general electronic medical records data structure and standards, a rehabilitation electronic medical records data system should be constructed which incorporates core data such as disease diagnosis, functional description and assessment, and rehabilitation interventions. The standardized rehabilitation electronic medical records scheme constructed in this study can support the improvement of standardization of rehabilitation electronic medical records data information.