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1.
J Oral Microbiol ; 16(1): 2374639, 2024.
Article in English | MEDLINE | ID: mdl-38979477

ABSTRACT

Background: Oral lichen planus (OLP) is a common oral mucosal disease, clinically categorized into erosive OLP (EOLP) and non-erosive OLP (NEOLP) based on symptoms, but its pathogenic mechanism remains unclear. This study aims to explore the relationship between OLP and the oral microbiome. Methods: We collected oral mucosal samples from 49 patients and 10 healthy individuals and conducted 16S rRNA and ITS gene sequencing to explore the oral fungal and bacterial communities. Results: We observed significantly lower α diversity of fungi in the EOLP group, with Candida being significantly enriched as the main dominant genus. In the NEOLP group, Aspergillaceae were significantly enriched. The EOLP group showed significant enrichment of Aggregatibacter and Lactobacillus, but the relative abundance of Streptococcus was notably lower than in the other two groups. In the NEOLP group, two species including Prevotella intermedia were significantly enriched. The microbial co-occurrence and co-exclusion networks display distinct characteristics across the three groups, with Lactobacillus assuming a significant bridging role in the ELOP group. Conclusions: Our study indicates that EOLP and NEOLP experience varying degrees of dysbiosis at both the fungal and bacterial levels. Therefore, the pathogenic mechanisms and interactive relationships of these microbiota associated with OLP merit further in-depth investigation.


The microbial community in the oral lesions of EOLP patients exhibits highly distinctive features, both in terms of bacteria and fungi.In NEOLP patients, the overall bacterial composition does not exhibit significant differences compared to the healthy population, but P. intermedia and Aspergillaceae are notably enriched.

2.
NPJ Sci Food ; 8(1): 41, 2024 Jun 27.
Article in English | MEDLINE | ID: mdl-38937488

ABSTRACT

Diabetes mellitus affected more than 500 million of people globally, with an annual mortality of 1.5 million directly attributable to diabetic complications. Oxidative stress, in particularly in post-prandial state, plays a vital role in the pathogenesis of the diabetic complications. However, oxidative status marker is generally poorly characterized and their mechanisms of action are not well understood. In this work, we proposed a new framework for deep characterization of oxidative stress in erythrocytes (and in urine) using home-built micro-scale NMR system. The dynamic of post-prandial oxidative status (against a wide variety of nutritional load) in individual was assessed based on the proposed oxidative status of the red blood cells, with respect to the traditional risk-factors such as urinary isoprostane, reveals new insights into our understanding of diabetes. This new method can be potentially important in drafting guidelines for sub-stratification of diabetes mellitus for clinical care and management.

3.
Allergy ; 79(5): 1230-1241, 2024 05.
Article in English | MEDLINE | ID: mdl-38403941

ABSTRACT

BACKGROUND: Identifying predictive biomarkers for allergen immunotherapy response is crucial for enhancing clinical efficacy. This study aims to identify such biomarkers in patients with allergic rhinitis (AR) undergoing subcutaneous immunotherapy (SCIT) for house dust mite allergy. METHODS: The Tongji (discovery) cohort comprised 72 AR patients who completed 1-year SCIT follow-up. Circulating T and B cell subsets were characterized using multiplexed flow cytometry before SCIT. Serum immunoglobulin levels and combined symptom and medication score (CSMS) were assessed before and after 12-month SCIT. Responders, exhibiting ≥30% CSMS improvement, were identified. The random forest algorithm and logistic regression analysis were used to select biomarkers and establish predictive models for SCIT efficacy in the Tongji cohort, which was validated in another Wisco cohort with 43 AR patients. RESULTS: Positive SCIT response correlated with higher baseline CSMS, allergen-specific IgE (sIgE)/total IgE (tIgE) ratio, and frequencies of Type 2 helper T cells, Type 2 follicular helper T (TFH2) cells, and CD23+ nonswitched memory B (BNSM) and switched memory B (BSM) cells, as well as lower follicular regulatory T (TFR) cell frequency and TFR/TFH2 cell ratio. The random forest algorithm identified sIgE/tIgE ratio, TFR/TFH2 cell ratio, and BNSM frequency as the key biomarkers discriminating responders from nonresponders in the Tongji cohort. Logistic regression analysis confirmed the predictive value of a combination model, including sIgE/tIgE ratio, TFR/TFH2 cell ratio, and CD23+ BSM frequency (AUC = 0.899 in Tongji; validated AUC = 0.893 in Wisco). CONCLUSIONS: A T- and B-cell signature combination efficiently identified SCIT responders before treatment, enabling personalized approaches for AR patients.


Subject(s)
Biomarkers , Desensitization, Immunologic , Pyroglyphidae , Rhinitis, Allergic , Humans , Rhinitis, Allergic/therapy , Rhinitis, Allergic/immunology , Male , Desensitization, Immunologic/methods , Animals , Female , Adult , Pyroglyphidae/immunology , Treatment Outcome , Immunoglobulin E/blood , Immunoglobulin E/immunology , Middle Aged , Young Adult , Allergens/immunology , Allergens/administration & dosage , Antigens, Dermatophagoides/immunology , Injections, Subcutaneous , Adolescent , Prognosis
4.
PLoS Genet ; 20(1): e1011107, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38181050

ABSTRACT

Eukaryotic chromatin is organized into either silenced heterochromatin or relaxed euchromatin regions, which controls the accessibility of transcriptional machinery and thus regulates gene expression. In fission yeast, Schizosaccharomyces pombe, Set1 is the sole H3K4 methyltransferase and is mainly enriched at the promoters of actively transcribed genes. In contrast, Clr4 methyltransferase initiates H3K9 methylation, which has long been regarded as a hallmark of heterochromatic silencing. Lsd1 and Lsd2 are two highly conserved H3K4 and H3K9 demethylases. As these histone-modifying enzymes perform critical roles in maintaining histone methylation patterns and, consequently, gene expression profiles, cross-regulations among these enzymes are part of the complex regulatory networks. Thus, elucidating the mechanisms that govern their signaling and mutual regulations remains crucial. Here, we demonstrated that C-terminal truncation mutants, lsd1-ΔHMG and lsd2-ΔC, do not compromise the integrity of the Lsd1/2 complex but impair their chromatin-binding capacity at the promoter region of target genomic loci. We identified protein-protein interactions between Lsd1/2 and Raf2 or Swd2, which are the subunits of the Clr4 complex (CLRC) and Set1-associated complex (COMPASS), respectively. We showed that Clr4 and Set1 modulate the protein levels of Lsd1 and Lsd2 in opposite ways through the ubiquitin-proteasome-dependent pathway. During heat stress, the protein levels of Lsd1 and Lsd2 are upregulated in a Set1-dependent manner. The increase in protein levels is crucial for differential gene expression under stress conditions. Together, our results support a cross-regulatory model by which Set1 and Clr4 methyltransferases control the protein levels of Lsd1/2 demethylases to shape the dynamic chromatin landscape.


Subject(s)
Schizosaccharomyces pombe Proteins , Schizosaccharomyces , Schizosaccharomyces/metabolism , Schizosaccharomyces pombe Proteins/genetics , Schizosaccharomyces pombe Proteins/metabolism , Histones/genetics , Histones/metabolism , Histone-Lysine N-Methyltransferase/genetics , Histone-Lysine N-Methyltransferase/metabolism , Cell Cycle Proteins/genetics , Cell Cycle Proteins/metabolism , Heterochromatin/metabolism , Transcription Factors/genetics
5.
Chinese Pharmacological Bulletin ; (12): 363-371, 2024.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1013585

ABSTRACT

Aim To anticipate the mechanism of zuka- mu granules (ZKMG) in the treatment of bronchial asthma, and to confirm the projected outcomes through in vivo tests via using network pharmacology and molecular docking technology. Methods The database was examined for ZKMG targets, active substances, and prospective targets for bronchial asthma. The protein protein interaction network diagram (PPI) and the medication component target network were created using ZKMG and the intersection targets of bronchial asthma. The Kyoto Encyclopedia of Genes and Genomics (KEGG) and gene ontology (GO) were used for enrichment analysis, and network pharmacology findings were used for molecular docking, ovalbumin (OVA) intraperitoneal injection was used to create a bronchial asthma model, and in vivo tests were used to confirm how ZKMG affected bronchial asthma. Results There were 176 key targets for ZKMG's treatment of bronchial asthma, most of which involved biological processes like signal transduction, negative regulation of apoptotic processes, and angiogenesis. ZKMG contained 194 potentially active components, including quercetin, kaempferol, luteolin, and other important components. Via signaling pathways such TNF, vascular endothelial growth factor A (VEGFA), cancer pathway, and MAPK, they had therapeutic effects on bronchial asthma. Conclusion Key components had strong binding activity with appropriate targets, according to molecular docking data. In vivo tests showed that ZKMG could reduce p-p38, p-ERKl/2, and p-I

6.
Nanotechnology ; 35(4)2023 Nov 09.
Article in English | MEDLINE | ID: mdl-37871595

ABSTRACT

A simple hydrothermal method based on an orthogonal experimental design was used to synthesis Pt-loaded TiO2mesoporous nanoparticles in one step. The successful synthesis of Pt-loaded TiO2nanoparticles was demonstrated by various characterization methods. The effects of the modification of Pt and its explanation are described in detail by means of the test results. Through systematic gas-sensing tests, we found that the Pt-loaded TiO2nanoparticles outperform pure TiO2nanoparticles, with a high response value (S= 42.5) to 200 ppm acetone at 260 °C and with a film thickness of 0.45 mm, far superior to that of pure TiO2. The response time (8 s) and recovery time (11 s) of the material are also relatively good with excellent selectivity and long-term stability (30 days). The frequent use of acetone as an organic solution in factories and laboratories, as well as the possibility of making a preliminary diagnosis of diabetes by detecting acetone levels in exhaled gas, make this work promising for environmental monitoring and medical diagnosis.

7.
Am J Transl Res ; 15(2): 1462-1468, 2023.
Article in English | MEDLINE | ID: mdl-36915732

ABSTRACT

We presented a case of successful awake endotracheal intubation in a patient with a giant goiter and severe tracheal stenosis. The patient had difficulty in airway management during the perioperative anesthesia due to tracheal deviation and stenosis caused by tumor compression. We applied a visual laryngeal mask combined with fiberoptic bronchoscope to visualize the whole procedure of endotracheal intubation, from visually assessing the glottic, subglottic, and the tracheal conditions, to evaluating the pressure of the tumor on the trachea and the maximum tracheal tube diameter that could be passed. During the entire process, the patient remained awake, maintained spontaneous breathing, and actively cooperated with the clinical staff. Hence, we demonstrated that this method is safe, effective, operable, and could be generalized as a form of endotracheal intubation for patients with known difficult airways.

8.
Juntendo Iji Zasshi ; 69(6): 466-476, 2023.
Article in English | MEDLINE | ID: mdl-38855066

ABSTRACT

Background: Compared to distal gastrectomy (DG), pylorus-preserving gastrectomy (PPG), a peristaltic function-preserving surgery for early gastric cancer (EGC), is advantageous as it leads to a more improved nutritional status and quality of life (QOL) of patients. In recent years, total laparoscopic PPG (TLPPG), an anastomosis which is performed intracorporeally, has increasingly replaced laparoscopic-assisted PPG (LAPPG) due to its minimal invasiveness. Aim: To evaluate the safety and feasibility of TLPPG in terms of perioperative efficacy. Patients: Three patients underwent TLPPG in the Affiliated Hospital of Changzhi Medical College from September 2021 to March 2022. Methods: Surgical safety analysis: Our three cases (TLPPG group) were compared to data from the CLASS-02 study, which collected data from multiple centers across China for the laparoscopic total gastrectomy (LTG group). The CLASS-02 study provides data from the most invasive type of gastric surgery, providing solid comparative data to our own.Postoperative short-term efficacy analysis: Patient questionnaire responses provided data on postoperative nutritional and QOL status. Results from our three cases were compared to the Japanese multicenter data PGSAS-37 (PGSAS group). Results: There were no complications or deaths occurred during or after operation in our cases. Compared to the PGSAS group, our cases scored lower for abdominal pain, dyspepsia, and weight loss. Conclusion: Although more case information is needed, our findings demonstrate that TLPPG may be a possible and effective treatment for EGC in China, similar to that in Japan.

9.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1008601

ABSTRACT

Neurodegenerative diseases are a collective term for a large group of diseases caused by degenerative changes in nerve cells. Aging is the main risk factor for neurodegenerative diseases. The neurovascular unit(NVU) is the smallest functional unit of the brain, which regulates brain blood flow and maintains brain homeostasis. Accelerated aging of NVU cells directly impairs NVU function and leads to the occurrence of various neurodegenerative diseases. The intrinsic mechanisms of NVU cell aging are complex and involve oxidative stress damage, loss of protein homeostasis, DNA damage, mitochondrial dysfunction, immune inflammatory response, and impaired cellular autophagy. In recent years, studies have found that traditional Chinese medicine(TCM) can inhibit NVU aging through multiple pathways and targets, exerting a brain-protective effect. Therefore, this article aimed to provide a theoretical basis for further research on TCM inhibition of NVU cell aging and references for new drug development and clinical applications by reviewing its mechanisms of anti-aging, such as regulating relevant proteins, improving mitochondrial dysfunction, reducing DNA damage, lowering inflammatory response, antioxidant stress, and modulating cellular autophagy.


Subject(s)
Humans , Medicine, Chinese Traditional , Neurodegenerative Diseases/drug therapy , Brain , Aging , Neurons , Blood-Brain Barrier
10.
Journal of Modern Urology ; (12): 307-312, 2023.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1006080

ABSTRACT

【Objective】 To investigate the prevalence and risk factors of lower urinary tract symptoms (LUTS) in rural children and adolescents. 【Methods】 An epidemiological LUTS survey was carried out on 4 100 children and adolescents (aged 6-16 years) in five primary and secondary schools in rural Henan by means of stratified random cluster sampling using anonymous questionnaires. Daytime urinary incontinence (DUI), nocturnal enuresis (NE), and postnatal diaper use and toilet training were investigated. 【Results】 A total of 3 885 valid questionnaires were recovered (with a recovery rate of 94.76%). The total prevalence of the four symptoms of LUTS, including urgency, frequency, DUI and NE, were 16.42%, 10.91%, 7.41% and 7.95%, respectively. As much as 21.13% subjects had at least one symptom. The prevalence of the four symptoms decreased gradually with age, decreased sharply in those aged 6 to 12 years, and then decreased slowly. The prevalence of LUTS in children who stopped using diapers and stared urine training after 1 year of age was significantly higher than that of those within 1 year of age (χ2=21.605, 23.111, 24.189, 23.509, all P<0.05; χ2=102.17, 72.168, 53.656, 197.76, all P<0.05). There were significant differences in the prevalence of LUTS between those with and without toilet training (χ2=315.273, 198.438, 105.723, 272.502, all P<0.05). The prevalence of LUTS in males was significantly higher than that in females (P<0.05). Constipation, prepuce and phimosis in boys were significantly associated with the prevalence of LUTS (P<0.05). 【Conclusion】 Rural children and adolescents have a high prevalence of LUTS. Diaper use after 1 year of age, history of urinary tract infection (UTI), lack of toilet training, constipation, and abnormal prepuce are risk factors of LUTS. Urine training before 1 year of age is a protective factor of LUTS.

11.
Journal of Modern Urology ; (12): 292-296, 2023.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1006077

ABSTRACT

【Objective】 To investigate the prevalence and risk factors of primary nocturnal enuresis (PNE) in adolescents, and to explore its psychological effects. 【Methods】 During Sep.2020 and Dec.2020, an epidemiological survey was conducted among 6 408 junior and senior high school students in a region of Henan Province by stratified and cluster random sampling. The survey included general information questionnaire, urinary frequency, urgency, incontinence, recurrent urinary tract infection (RUTI), Enuresis Questionnaire, Self-esteem Scale (SES) and the Pittsburgh Sleep Quality Index (PSQI). 【Results】 A total of 7, 000 questionnaires were distributed and 6 408 (91.54%) were valid. The survey showed that the total prevalence of PNE among adolescents was 2.98%. The prevalence was 4.67% in those aged 12 years and 1.37% in those aged 18 years. The results of Logistic regression analysis showed that male (OR=1.677, P<0.05), overweight (OR=1.842, P<0.05), urgency (OR=1.676, P<0.05), frequency (OR=1.919, P<0.05), incontinence (OR=3.493, P<0.001), RUTI (OR=2.535, P<0.001) and family history (OR=3.005, P<0.001) were related to the risk of PNE. The SES score of PNE patients was lower than that of non-PNE group (z=-3.097, P<0.05), and the PSQI was higher (z=-5.456, P<0.05). 【Conclusion】 The prevalence of PNE is high in adolescents and decreases gradually with age. Male, overweight, frequency, urgency, incontinence, RUTI and family history are risk factors. PNE has a negative impact on self-esteem and sleep quality in adolescents.

12.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1004745

ABSTRACT

【Objective】 To analyze the distribution of unexpected antibodies in tumor patients retrospectively and explore the clinical significance. 【Methods】 Unexpected antibody screening was performed on inpatients with blood preparation and blood transfusion in our hospital from January 2004 to December 2022, with 1 176 cases tested positive, and the types of unexpected antibodies and distribution characteristics were statistically analyzed. 【Results】 Unexpected antibodies were screened in 1 176 cases, with the positive rate at 1.05% (1 176/111 483). The unexpected antibodies were mainly anti-E 16.33%(192/1 176), anti-M 7.99% (94/1 176), anti-Mur 5.70% (67/1 176) and anti-Lea 4.76% (56/1 176). Among the 1 176 cases, gastrointestinal tumors accounted for 27.99% (329/1 176), gynecological tumors accounted for 24.84% (292/1 176), respiratory tumors accounted for 16.67% (196/1 176) . 【Conclusion】 The influencing factors of unexpected antibodies in tumor patients were disease type, blood transfusion history and blood type. Therefore, it is necessary for clinical departments to carry out unexpected antibody screening and perform Rh blood type matched transfusion for tumor patients to avoid alloantibody production.

13.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1004690

ABSTRACT

【Objective】 To carry out serological and molecular biological identification of B (A) subtype, and discuss the rational blood transfusion strategy. 【Methods】 Serological and direct sequencing methods were used to detect serotype and genotype of 7 cases of B (A) subtype, and cross matching was performed by saline medium and anti human globulin card to analyze the red blood cells(RBCs) transfusion strategy. 【Results】 The serology results of blood type of 7 samples were similar, with B(A)04/O01 in 3 cases, B(A)04/O02 in 2 cases and B(A)02/O01 in 2 cases. 7 cases of B (A) subtypes were matched with randomly selected blood donors of type O and B on the major side. 【Conclusion】 B(A) subtypes should be identified by genotyping techniques. Washed RBCs of type B and O can be used for B(A) blood type transfusion.

14.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1003592

ABSTRACT

@#Liquid chromatography-multiple-reaction monitoring (LC-MRM) has been widely recognized as the golden standard for multiple components-targeted quantitative analysis of complicated matrices,with extensive applications for analysis in such fields as chemical drugs, traditional Chinese medicines and foods.Unfortunately, when facing the task of quantitatively analyzing trace chemical components in complex matrices, MRM suffers dramatically from the background noise or matrix interference, leading to undesirable sensitivity and selectivity in terms of the lower limits of quantification (LOQ) and detection (LOD).In recent years, MRM cubed (MRM3), also known as MS3 scan, has received much attention because of its unique ability to significantly improve detection selectivity and sensitivity attributing to the successive ion filtering function, enabling LC-MRM3 as an emerging analytical tool.In this review,our attention is devoted to: 1) the illustration of the principle for MRM3; 2) parameter settings; and 3) the application progress of LC-MRM3 in such fields as the pursuit of biomarkers, pharmaceutical analysis, forensic analysis, toxicological analysis, food chemistry, and environmental analysis, aiming to provide a promising analytical tool of LC-MRM3 advantageous in the quantification analysis of trace chemical components in complex matrices.

15.
Chinese Pharmacological Bulletin ; (12): 1470-1477, 2023.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1013728

ABSTRACT

Aim To systematically evaluate the heat-clearing mechanism of Arnebiae Radix on two mouse models of blood heat syndrome. Methods The drug-forming molecules were screened by comprehensive network pharmacology methods, and the correlation between drug efficacy and related factors and targets was evaluated on the mouse model of short effect blood heat syndrome constructed by 2, 4-dinitrophenol (DNP) and the mouse model of severe blood heat syndrome (heat stroke) constructed by high temperature combined with lipopolysaccharide (LPS). Results A total of 277 shikonin related targets were collected, mainly involving biological processes such as inflammatory reaction, oxidation reaction and coagulation reaction. Shikonin, a representative compound, significantly improved the main syndromes of mice with blood heat syndrome, reduced the levels of inflammatory factors IL-1β, IL-6 and TNF-α in the two models, and reduced the contents of oxidative damage indexes LPO and MDA, and the two showed correlation. The main mechanism was to inhibit the expression of NF-ΚB p65 and up-regulate the expression of Nrf2. Conclusions Shikonin plays a pharmacological role in the prevention and treatment of blood heat syndrome by inhibiting inflammation and improving antioxidant capacity, which provides a pharmacological basis for shikonin in the prevention and treatment of blood heat syndrome.

16.
Chinese Journal of Hematology ; (12): 930-935, 2023.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1012259

ABSTRACT

Objective: To analyze the phenotype and genotype of two pedigrees with inherited fibrinogen (Fg) deficiency caused by two heterozygous mutations. We also preliminarily probed the molecular pathogenesis. Methods: The prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT) and plasma fibrinogen activity (Fg∶C) of all family members (nine people across three generations and three people across two generations) were measured by the clotting method. Fibrinogen antigen (Fg:Ag) was measured by immunoturbidimetry. Direct DNA sequencing was performed to analyze all exons, flanking sequences, and mutated sites of FGA, FGB, and FGG for all members. Thrombin-catalyzed fibrinogen polymerization was performed. ClustalX 2.1 software was used to analyze the conservatism of the mutated sites. MutationTaster, PolyPhen-2, PROVEAN, SIFT, and LRT online bioinformatics software were applied to predict pathogenicity. Swiss PDB Viewer 4.0.1 was used to analyze the changes in protein spatial structure and molecular forces before and after mutation. Results: The Fg∶C of two probands decreased (1.28 g/L and 0.98 g/L, respectively). The Fg∶Ag of proband 1 was in the normal range of 2.20 g/L, while it was decreased to 1.01 g/L in proband 2. Through genetic analysis, we identified a heterozygous missense mutation (c.293C>A; p.BβAla98Asp) in exon 2 of proband 1 and a heterozygous nonsense mutation (c.1418C>G; p.BβSer473*) in exon 8 of proband 2. The conservatism analysis revealed that Ala98 and Ser473 presented different conservative states among homologous species. Online bioinformatics software predicted that p.BβAla98Asp and p.BβSer473* were pathogenic. Protein models demonstrated that the p.BβAla98Asp mutation influenced hydrogen bonds between amino acids, and the p.BβSer473* mutation resulted in protein truncation. Conclusion: The dysfibrinogenemia of proband 1 and the hypofibrinogenemia of proband 2 appeared to be related to the p.BβAla98Asp heterozygous missense mutation and the p.BβSer473* heterozygous nonsense mutation, respectively. This is the first ever report of these mutations.


Subject(s)
Humans , Afibrinogenemia/genetics , Codon, Nonsense , Pedigree , Phenotype , Fibrinogen/genetics , Genotype
17.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1011072

ABSTRACT

The incidence of single-sided deafness(SSD) is increasing year by year. Due to the hearing defects of one ear, the ability of sound localization, speech recognition in noise, and quality of life of patients with single-sided deafness will be affected to varying degrees. This article reviews the intervention effects of different types of bone conduction hearing aids in patients with single-sided deafness and asymmetric hearing loss, and the differences of intervention effects between bone conduction hearing aids, contralateral routing of signal(CROS) aids, and cochlea implant(CI), to provide a reference for the auditory intervention and clinical treatment of single-sided deafness and asymmetric hearing loss.


Subject(s)
Humans , Quality of Life , Bone Conduction , Hearing Loss, Unilateral/therapy , Speech Perception , Hearing Aids , Hearing Loss , Sound Localization , Deafness , Treatment Outcome
18.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1009884

ABSTRACT

This report presents a case of a male infant, aged 32 days, who was admitted to the hospital due to 2 days of bloody stools and 1 day of fever. Upon admission, venous blood samples were collected, which appeared pink. Blood biochemistry tests revealed elevated levels of triglycerides and total cholesterol. The familial whole genome sequencing revealed a compound heterozygous variation in the LPL gene, with one variation inherited from the father and the other from the mother. The patient was diagnosed with lipoprotein lipase deficiency-related hyperlipoproteinemia. Acute symptoms including bloody stools, fever, and bloody ascites led to the consideration of acute pancreatitis, and the treatment involved fasting, plasma exchange, and whole blood exchange. Following the definitive diagnosis based on the genetic results, the patient was given a low-fat diet and received treatment with fat-soluble vitamins and trace elements, as well as adjustments to the feeding plan. After a 4-week hospitalization, the patient's condition improved and he was discharged. Follow-up showed a decrease in triglycerides and total cholesterol levels. At the age of 1 year, the patient's growth and psychomotor development were normal. This article emphasizes the multidisciplinary diagnosis and treatment of familial hyperlipoproteinemia presenting with symptoms suggestive of acute pancreatitis, including bloody ascites, in the neonatal period.


Subject(s)
Humans , Infant , Male , Acute Disease , Ascites , Cholesterol , Hyperlipoproteinemia Type I/genetics , Hyperlipoproteinemias , Lipoprotein Lipase/genetics , Pancreatitis , Triglycerides
19.
Journal of Experimental Hematology ; (6): 1872-1877, 2023.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1010052

ABSTRACT

OBJECTIVE@#To investigate the clinical characteristics, diagnosis, and treatment of one patient with TAFRO syndrome, and to strengthen the understanding of this rare type.@*METHODS@#The clinical manifestations, diagnosis and treatment process, and prognosis of the patient admitted in Gansu Provincial People's Hospital were retrospectively analyzed.@*RESULTS@#Combined with laboratory tests, bone marrow examination, imaging, pathology, etc, the patient was diagnosed with TAFRO syndrome. After three cycles of treatment with pomalidomide (2-3 mg/d, d1-21), cyclophosphamide (300 mg/m2, 0.54 g once a week) and dexamethasone (20 mg/d, two days a week), platelet count, serum creatinine and procalcitonin returned to normal, the systemic edema disappeared, and the patient's condition was alleviated. The therapeutic effect was good.@*CONCLUSION@#TAFRO syndrome is rare, involves multiple systems, progresses rapidly, and has a worse prognosis. The choice of the "Pomalidomide+cyclophosphamide+dexamethasone" regimen is help to improve the survival prognosis of patient with TAFRO syndrome.


Subject(s)
Humans , Thrombocytopenia , Retrospective Studies , Castleman Disease/diagnosis , Dexamethasone , Cyclophosphamide/therapeutic use
20.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-1010154

ABSTRACT

OBJECTIVE@#To investigate the significance of anti-histidyl tRNA synthetase (Jo-1) antibody in idiopathic inflammatory myopathies (IIM) and its diseases spectrum.@*METHODS@#We enrolled all the patients who were tested positive for anti-Jo-1 antibody by immunoblotting in Peking University People's Hospital between 2016 and 2022. And the patients diagnosed with anti-synthetase antibody syndrome (ASS) with negative serum anti-Jo-1 antibody were enrolled as controls. We analyzed the basic information, clinical characteristics, and various inflammatory and immunological indicators of the patients at the onset of illness.@*RESULTS@#A total of 165 patients with positive anti-Jo-1 antibody were enrolled in this study. Among them, 80.5% were diagnosed with connective tissue disease. And 57.6% (95/165) were diagnosed with IIM, including ASS (84/165, 50.9%), immune-mediated necrotizing myopathy (7/165, 4.2%) and dermatomyositis (4/165, 2.4%). There were 23.0% (38/165) diagnosed with other connective tissue disease, mainly including rheumatoid arthritis (11/165, 6.7%), undifferentiated connective tissue disease (5/165, 3.0%), interstitial pneumonia with autoimmune features (5/165, 3.0%), undifferentiated arthritis (4/165, 2.4%), Sjögren's syndrome (3/165, 1.8%), systemic lupus erythematosus (3/165, 1.8%), systemic vasculitis (3/165, 1.8%), and so on. Other cases included 3 (1.8%) malignant tumor patients, 4 (2.4%) infectious cases and so on. The diagnoses were not clear in 9.1% (15 /165) of the cohort. In the analysis of ASS subgroups, the group with positive serum anti-Jo-1 antibody had a younger age of onset than those with negative serum anti-Jo-1 antibody (49.9 years vs. 55.0 years, P=0.026). Clinical manifestations of arthritis (60.7% vs. 33.3%, P=0.002) and myalgia (47.1% vs. 22.2%, P=0.004) were more common in the ASS patients with positive anti-Jo-1 antibody. With the increase of anti-Jo-1 antibody titer, the incidence of the manifestations of arthritis, mechanic hands, Gottron sign and Raynaud phenomenon increased, and the proportion of abnormal creatine kinase and α-hydroxybutyric dehydrogenase index increased in the ASS patients. The incidence of myalgia and myasthenia were significantly more common in this cohort when anti-Jo-1 antibody-positive ASS patients were positive for one and more myositis specific antibodies/myositis associated autoantibodies (P < 0.05).@*CONCLUSION@#The disease spectrum in patients with positive serum anti-Jo-1 antibody includes a variety of diseases, mainly ASS. And anti-Jo-1 antibody can also be found in many connective tissue diseases, malignant tumor, infection and so on.


Subject(s)
Humans , Middle Aged , Myalgia , Myositis/epidemiology , Autoantibodies , Connective Tissue Diseases , Arthritis, Rheumatoid , Neoplasms
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