[Clinical characteristics and management status of Turner syndrome in 1 089 children].

Objective: To investigate the clinical characteristics and management status of children with Turner syndrome (TS) in China. Methods: As a cross-sectional study, 1 089 TS patients were included in the database of the National Collaborative Alliance for the Diagnosis and Treatment of Turner Syndrome from August 2019 to November 2023. Clinical characteristics (growth development, sexual development, organ anomalies, etc.), karyotypes, auxiliary examinations, and treatments were collected and analyzed. Results: Among the 1 089 TS cases, 809 were recorded karyotypes. The karyotype distribution was as follows: 45, X in 317 cases (39.2%), X chromosome structural variants (including partial deletions of p or q arm, ring chromosome, and marker chromosome) in 89 cases (11.0%), 45, X/46, XX mosaicism in 158 cases (19.5%), mosaicism with X chromosome structural variants in 209 cases (25.8%), and presence of Y chromosome material in 36 cases (4.4%). Among the 824 TS cases, the age of diagnosis was 9.7(6.4, 12.2) years, with a height standard deviation score (HtSDS) of -3.1±1.2. Five hundred and fifty three cases underwent growth hormone (GH) stimulation test, and 352 cases (63.7%) had GH peak values <10 µg/L and 75.9% (577/760) had low IGF1 levels, with IGF1 SDS ≤-2 accounting for 38.2% (290 cases). Among 471 cases aged ≥8 years, 132 cases (28.0%) showed spontaneous sexual development (mean bone age (11.0±1.7) years), 10 cases had spontaneous menarche (mean bone age (12.0±2.2) years), and 2 cases had regular menstrual cycles. Common physical features included cubitus valgus (311 cases (28.5%)), neck webbing (188 cases (17.2%)), low posterior hairline (185 cases (17.0%)), shield chest (153 cases (14.0%)), high arched palate (127 cases (11.6%)), short fourth metacarpal (43 cases (3.9%)), and spinal abnormalities (38 cases (3.5%)). Congenital cardiovascular and urogenital anomalies occurred in 91 cases (19.4%) and 66 cases (12.0%)respectively. Abdominal ultrasound in 33 cases (7.2%) indicated fatty liver, hepatomegaly, intrahepatic bile duct stones, and splenomegaly. Among 23 cases undergoing oral glucose tolerance test (OGTT) test, 2 were diagnosed with diabetes mellitus and 4 with impaired glucose tolerance. Following diagnosis, 669 cases (80.7%) received rhGH treatment at a chronological age of (9±4) years and bone age of (8.3±3.2) years. Additionally, 112 cases (19.4%) received sex hormone replacement therapy starting at the age of (14±4) years and bone age of (12.6±1.2) years. Conclusions: The karyotypes of 45, X and mosaicism were most common in Chinese children with TS. The clinical manifestations were mainly short stature and gonadal dysplasia. However, a few TS children could be in the normal range of height, and some cases among those aged of ≥8 years old had spontaneous sexual development. Some exhibited physical features, congenital cardiovascular and urogenital anomalies, and dysfunction of the hypothalamic-pituitary-IGF1 axis. Moreover, a few of them developed impaired glucose tolerance and diabetes mellitus. Following diagnosis, most of the patients received rhGH treatment, and a few of them received sex hormone replacement therapy.

Association of gut microbiota with acute kidney injury: a two-sample Mendelian randomisation and case-control study.

Epidemiologic studies have implicated the gut microbiota in acute kidney injury (AKI), but the causal relationship is unclear. Using Mendelian randomisation, we explored the causal role of gut microbiota in the development of acute kidney injury after excluding confounding and reverse causality. Mendel randomised (MR) study was conducted using data from intestinal microbiota and genome-wide association studies (GWAS) disease of acute kidney injury and the sequencing data of case-control study confirmed this finding. The summary statistics of intestinal microbiota (n = 13,266) conducted by MiBioGen Alliance was taken as the exposure, while the statistics of acute kidney injury obtained from FinnGen Alliance data (2,383 cases and 212,841 controls) were taken as the results. A total of 42 patients were included in this case-control study. Evidence for the protective causal associations of the genus Flavonifractor id.2059 with AKI was found in inverse variance weighting (odds ratio = 0.48 [95% confidence interval, 0.32-0.72]; P = 0.0003). Additionally, a case-control study showed that the relative abundance of the genus Flavonifractor id.2059 ( P = 0.0169) in septic non-AKI patients was higher than that in septic AKI patients. Compared with S-AKI patients who died within 28 days, the relative abundance of the genus Flavonifractor id.2059 in surviving patients was higher ( P = 0.0281). Phylogenetic analysis showed that OTU68 and HQ455040.1334-739 (genus Flavonifractor, Genetic similarity: 100%), as well as OTU2271 and LT598575.1365-770 (genus Pseudoflavonifractor, Genetic similarity: 100%), have closest genetic ties. Correlation analysis showed that the genus Flavonifractor id.2059 was related to the creatinine value (Spearman correlation: -0.379, P = 0.013). The present study demonstrates that the genus Flavonifractor id.2059 is associated with a reduced risk of AKI, revealing potential implications for the prevention and treatment of acute kidney injury.

Reducing Diarrhea in Critically Ill Patients Receiving Enteral Nutrition Support: An Evidence-Based Quality Improvement Project.

BACKGROUND: Diarrhea during enteral nutrition may induce various complications and increase the nursing workload. LOCAL PROBLEM: The diarrhea rate in our intensive care units (ICUs) was 37.14% from May to July 2021. Nurses reported a moderate to heavy burden regarding care for those with diarrhea. METHODS: A pre-post implementation design was used to evaluate the impact of evidence-based interventions for diarrhea screening and prevention. INTERVENTIONS: A diarrhea risk screening tool and countermeasures were developed through an extensive literature review. Tools were integrated into the electronic health record system. RESULTS: The rate of diarrhea decreased from 37.14% to 17.33% ( P = .000). Nurse's compliance with practice standards increased for diarrhea assessment, risk factor screening, agent choice, and countermeasures provision ( P < .05). CONCLUSIONS: The evidence-based tools developed for this project helped decrease the diarrhea rate in our ICUs.

[Application of the CRISPR/Cas system in gene editing and nucleic acid detection of parasitic diseases: a review].

CRISPR/Cas system, an adaptive immune system with clustered regularly interspaced short palindromic repeats, may interfere with exogenous nucleic acids and protect prokaryotes from external damages, is an effective gene editing and nucleic acid detection tools. The CRISPR/Cas system has been widely applied in virology and bacteriology; however, there is relatively less knowledge about the application of the CRISPR/Cas system in parasitic diseases. The review summarizes the mechanisms of action of the CRISPR/Cas system and provides a comprehensive overview of their application in gene editing and nucleic acid detection of parasitic diseases, so as to provide insights into future studies on parasitic diseases.

Drug-related problems associated with direct oral anticoagulants: an observational cross-sectional study of medical record review by pharmacists in a large teaching hospital.

Background: Prescribing DOACs presents with challenges in the elderly and patients with renal and hepatic impairment. To mitigate safety risks, pharmacists have a role in detection, prevention, and resolution of DOAC-associated drug-related problems (DRPs). Objectives: To identify the types of DOAC-associated DRPs in patients on DOAC therapy and factors that predispose patients to DOAC-associated DRPs. Methods: An observational cross-sectional study was conducted in SGH from January 1, 2017, to May 31, 2019, on patients prescribed with a DOAC (rivaroxaban, dabigatran, and apixaban). Data were electronically extracted for patient demographics, clinical characteristics, and details of DOAC-related DRPs identified by pharmacists. Matching of DRP group to non-DRP group at a ratio of 1:2 based on gender, race, and DOAC was performed. The DRP group included patients with detected DRPs while non-DRP group included patients without them. Descriptive analysis was used to summarize patient characteristics and types of DOAC-associated DRPs. In the matched population, conditional logistic regression was used to calculate unadjusted (UOR) and adjusted odds (AOR) ratio to detect association of DOAC-associated DRPs with age, renal function, ≥2 comorbidities, and DOAC indication (atrial fibrillation [AF] vs venous thromboembolism). Results: A total of 8432 patients prescribed DOACs were analyzed, which consisted of 827 (9.8%) and 7602 (90.2%) patients with DRPs and no DRPs, respectively. The top DOAC-associated DRP was inappropriate drug regimen (n = 487, 60.1%). After matching, 2403 patients were analyzed, consisting of 801 patients from DRP group and 1602 from non-DRP group. Factors associated with DOAC-associated DRPs were statistically significant for renal function at creatinine clearance (CrCl) of >30 to 50 mL/min/1.73 m2 (AOR: 1.42; 95% CI: 1.14-1.76; P = .002), 15 to 30 mL/min/1.73 m2 (OR: 1.94; 95% CI: 1.42-2.66; P < .001), and <15 mL/min/1.73m2 (OR: 2.35; 95% CI: 1.13-4.88; P = .022), respectively, compared with a CrCl of >50 mL/min/1.73 m2 and DOAC indication for AF (AOR: 1.84; 95% CI: 1.47-2.30; P < .001) compared with venous thromboembolism. Conclusion: Inappropriate drug regimen was the most common DOAC-associated DRP. Impaired renal function and patients with AF increased the likelihood of DOAC-associated DRPs.

Medical expenses of patients with severe mental disorders in Beijing, China.

OBJECTIVES: Mental health has become a significant public health problem that impacts both economic and social development, with severe mental disorders (SMDs) being the top priority. Over recent years, Beijing, China, has introduced several policies to reduce the economic burden on patients with mental health disorders. The aim of this study was to investigate the current status and composition of patients' medical expenses following the introduction of multiple medical policies, explore the factors that may impact the utilisation of medical services and provide a reference and basis for subsequent policy improvements. STUDY DESIGN: Multistage sampling was used to select a representative study population. A retrospective survey was used to collect patient information and data on medical expenses in 2019. METHODS: Descriptive statistics were applied to analyse the current status of patients' medical expenses, and a two-part model was used to examine the factors influencing healthcare utilisation and to model predicted expenses. RESULTS: Among 4940 participants, the average outpatient expenses of patients with SMD who incurred medical expenses were 8373.61 Yuan, and the average hospitalisation expenses were 81,594.05 Yuan. The out-of-pocket expenses were 29.22% of outpatient expenses and 8.13% of inpatient expenses. Factors such as age, household status, economic status, marital status, participation in the Community Free-Medication Service (CFMS) and the type of disease diagnosed influenced the differences in medical expenses and utilisation of services. CONCLUSIONS: The medical expenses of patients with SMD in Beijing are high, but a number of introduced policies have effectively reduced these costs for patients. Future studies should focus on the impact of factors such as age, economic status, participation in the CFMS and the type of disease diagnosed on medical expenses.

Programming co-assembled peptide nanofiber morphology via anionic amino acid type: Insights from molecular dynamics simulations.

Co-assembling peptides can be crafted into supramolecular biomaterials for use in biotechnological applications, such as cell culture scaffolds, drug delivery, biosensors, and tissue engineering. Peptide co-assembly refers to the spontaneous organization of two different peptides into a supramolecular architecture. Here we use molecular dynamics simulations to quantify the effect of anionic amino acid type on co-assembly dynamics and nanofiber structure in binary CATCH(+/-) peptide systems. CATCH peptide sequences follow a general pattern: CQCFCFCFCQC, where all C's are either a positively charged or a negatively charged amino acid. Specifically, we investigate the effect of substituting aspartic acid residues for the glutamic acid residues in the established CATCH(6E-) molecule, while keeping CATCH(6K+) unchanged. Our results show that structures consisting of CATCH(6K+) and CATCH(6D-) form flatter ß-sheets, have stronger interactions between charged residues on opposing ß-sheet faces, and have slower co-assembly kinetics than structures consisting of CATCH(6K+) and CATCH(6E-). Knowledge of the effect of sidechain type on assembly dynamics and fibrillar structure can help guide the development of advanced biomaterials and grant insight into sequence-to-structure relationships.

Mitochondrial electron transport chain, ceramide, and coenzyme Q are linked in a pathway that drives insulin resistance in skeletal muscle.

Insulin resistance (IR) is a complex metabolic disorder that underlies several human diseases, including type 2 diabetes and cardiovascular disease. Despite extensive research, the precise mechanisms underlying IR development remain poorly understood. Previously we showed that deficiency of coenzyme Q (CoQ) is necessary and sufficient for IR in adipocytes and skeletal muscle (Fazakerley et al., 2018). Here, we provide new insights into the mechanistic connections between cellular alterations associated with IR, including increased ceramides, CoQ deficiency, mitochondrial dysfunction, and oxidative stress. We demonstrate that elevated levels of ceramide in the mitochondria of skeletal muscle cells result in CoQ depletion and loss of mitochondrial respiratory chain components, leading to mitochondrial dysfunction and IR. Further, decreasing mitochondrial ceramide levels in vitro and in animal models (mice, C57BL/6J) (under chow and high-fat diet) increased CoQ levels and was protective against IR. CoQ supplementation also rescued ceramide-associated IR. Examination of the mitochondrial proteome from human muscle biopsies revealed a strong correlation between the respirasome system and mitochondrial ceramide as key determinants of insulin sensitivity. Our findings highlight the mitochondrial ceramide-CoQ-respiratory chain nexus as a potential foundation of an IR pathway that may also play a critical role in other conditions associated with ceramide accumulation and mitochondrial dysfunction, such as heart failure, cancer, and aging. These insights may have important clinical implications for the development of novel therapeutic strategies for the treatment of IR and related metabolic disorders.

Attitudes and Practices Surrounding Opioid Prescriptions following Open Reduction Internal Fixation of Distal Radius and Ankle Fractures: A Survey of the Canadian Orthopaedic Association Membership.

Background: The past two decades have seen a significant increase in consequences associated with nonmedical misuse of prescription opioids, such as addiction and unintentional overdose deaths. This study aimed to use an electronic survey to assess attitudes and opioid-prescribing practices of Canadian orthopaedic surgeons and trainees following open reduction internal fixation (ORIF) of distal radius and ankle fractures. This study was the first to assess these factors following ORIF of distal radius and ankle fractures using a survey design. Methods: A 40-item survey was developed focusing on four themes: respondent demographics, opioid-prescribing practice, patients with substance use disorders, and drug diversion. The survey was distributed among members of the Canadian Orthopaedic Association. Descriptive statistics were used to summarize respondent demographics and outcomes of interest. A Chi-square test was used to determine if proportion of opioid prescriptions between attending surgeons and surgeons in training was equal. Results: 191 surveys were completed. Most respondents prescribed 10-40 tabs of immediate-release opioids, though this number varied considerably. While most respondents believed patients consumed only 40-80% of the prescribed opioids (73.6%), only 28.7% of respondents counselled patients on safe storage/disposal of leftover opioids. 30.5% of respondents felt confident in their knowledge of opioid use and mechanisms of addiction. Most respondents desired further education on topics such as procedure-based opioid-prescribing protocols (74.2%), alternative pain management strategies (69.7%), and mechanisms of opioid addiction (49.0%). Conclusions: The principle finding of this study is the lack of a standardized approach to postoperative prescribing in distal radius and ankle fractures, illustrated by the wide range in number of opioids prescribed by Canadian orthopaedic surgeons. Our data suggest a trend towards overprescription among respondents following distal radius and ankle ORIF. Future studies should aim to rationalize interventions targeted at reducing postoperative opioid prescribing for common orthopaedic trauma procedures.

[Preventive effect of atropine premedication on vagal reflex in patients undergoing suspension laryngoscopy during anesthesia induction].

Objective: To evaluate the preventive effect of atropine premedication during anesthesia induction on vagal reflex in patients undergoing suspension laryngoscopy. Methods: A total of 342 patients (202 males and 140 females) scheduled for suspension laryngoscopy under general anesthesia in Beijing Tongren Hospital from October 2021 to March 2022 were prospectively enrolled, with a mean age of (48.1±11.9) years. The patients were randomly divided into two groups using the random number table method: the treatment group (n=171) and the control group (n=171). Patients in the treatment group were administrated with 0.5 mg atropine intravenously guttae (ivgtt) while patients in the control group were given equivalent volume of normal saline. For all patients, if heart rate (HR)<50 beats/min happened during the insertion of the suspension laryngoscope, the operation should be stopped and the laryngoscope should be removed. Patients without HR recovery after the removal of the laryngoscope should be given 0.5 mg atropine, and the operation should be continued after the HR recovered. The primary outcome was the incidence of HR fluctuation over 20% (ΔHR>20%) before and immediately after suspension laryngoscope fixation, and the secondary outcomes included HR, mean arterial pressure (MAP) of the two groups recorded before and after anesthesia induction, before and immediately after suspension laryngoscope fixation, and the incidences of sinus bradycardia, laryngoscope removal and atropine treatment during operation. Results: The incidences of ΔHR>20% and bradycardia immediately after the suspension laryngoscope fixation were 14.6% (25/171) and 12.9% (22/171) in the treatment group, which were significantly lower than those in the control group [28.1% (48/171) and 29.8% (51/171)] (both P<0.05). The HR immediately after the suspension laryngoscope fixation in the treatment group [(66.4±13.5) beats/min] and in the control group [(60.8±15.7) beats/min] was significantly lower than those before the suspension laryngoscope fixation [(74.7±11.1) beats/min and (67.6±12.8) beats/min, respectively] (both P<0.05). There were no significant differences in MAP between the two groups at each time point (all P>0.05). The incidence of laryngoscope removal once plus 0.5 mg atropine administration, laryngoscope removal twice plus 0.5 mg atropine administration and laryngoscope removal twice plus 1.0 mg atropine administration was 9.9% (17/171), 1.8% (3/171) and 0 (0) in the treatment group, respectively, which was significantly lower than those in the control group [24.0% (41/171), 5.8% (10/171) and 2.3% (4/171), respectively] (all P<0.05). Conclusion: Atropine premedication during anesthesia induction can effectively reduce the occurrence of vagal reflex in patients undergoing suspension laryngoscopy.

Positive PPD Test and TB-Ab Misdiagnosed as Tuberculosis Finally Proved as Sarcoidosis by Thoracoscopy: a Case Report.

BACKGROUND: Tuberculosis (TB) is a common infectious disease in developing countries. Tuberculosis and sarcoidosis are difficult to differentiate. We report a case of a patient who was initially misdiagnosed as tuberculosis due to positive tuberculin test (PPD test) and tuberculosis antibody (TB-Ab), which was eventually proven as sarcoidosis by thoracoscopy. METHODS: Appropriate laboratory tests are carried out and a chest CT scan, bronchoscopy, thoracoscopic pathological biopsy were done. RESULTS: Serum sedimentation was increased and tuberculosis antibody was positive. The chest CT scan showed multiple pulmonary nodules in both lungs. The bronchoscopy demonstrated no abnormality. Thoracoscopic pathology showed noncaseating granulomas and acid-fast staining was negative. CONCLUSIONS: When a patient has multiple pulmonary nodules and lymphadenopathy without obvious tuberculosis poisoning symptoms, physicians should pay attention to tuberculosis, sarcoidosis, and lung cancer. Pathology is crucial for the ultimate diagnosis.

[The analysis of a pedigree with hereditary coagulation factor â ¤ deficiency caused by compound heterozygous variation of F5 gene].

Objective: To analyze the gene variation of a genetic coagulation factor Ⅴ (FⅤ) deficiency pedigree and explore the molecular pathogenesis. Methods: The proband was a 32 years old female. The patient was prone to nose bleeding since childhood which was usually self-healed. On March 10, 2021, the proband went to the First Affiliated Hospital of Air Force Medical University for treatment of knee hematoma caused by a fall. None of the family members reported any history of bleeding. The prothrombin time (PT), activated partial thromboplastin time (APTT) and FⅤ activity (FⅤ: C) were detected by clotting method and the FⅤ antigen (FⅤ: Ag) was tested with enzyme-linked immunosorbent assay (ELISA). All exons and flanks of F5 gene were determined by Sanger sequencing. Clustalx-2.1-win, PolyPhen-2 and Swiss-PDBViewer software were used to analyze the conservatism of missense variation sites, whether the variations were harmful and their influences on protein structure and function. MutationTaster and NetGene2 software were used to analyze whether the splice site variation was harmful and its effect on the splice site. Results: The PT and APTT of the proband prolonged to 24.0 s and 69.8 s, respectively. The FⅤ: C and FⅤ: Ag decreased to 6% and 9%, respectively. There were compound heterozygous variations in F5 gene, which included c.911G>A heterozygous missense variation in exon 6 leading to p.Gly276Glu variation and c.5208+1G>A heterozygous missense variation in intron 15. The father and daughter had the p.Gly276Glu heterozygous variation. Her mother and son had the c.5208+1G>A heterozygous variation. Software analysis results of p.Gly276Glu heterozygous variation showed that Gly276 was conserved among homologous species, the variation was harmful, and it could affect the local structure and function of the protein. The c.5208+1G>A heterozygous variation was deleterious and resulted in the disappearance of the splice site, thereby affecting the protein function. Conclusion: The p.Gly276Glu and c.5208+1G>A compound heterozygous variants are deleterious variants associated with the patient's disease and may be the molecular pathogenesis of inherited FⅤ deficiency in this family.

Organizing Pneumonia Secondary to Infection with Coxiella Burnetii: a Case Report.

BACKGROUND: Organizing pneumonia is a non-specific inflammatory response to various types of damage to the lungs. It is usually considered bacterial pneumonia that has not been absorbed for more than 4 weeks, accompanied by granulomas and fibrosis. Lung lesions in patients with organizing pneumonia are usually irreversible and the prognosis is relatively poor. Coxiella burnetii can cause Q fever. Acute Q fever usually presents as a self-limiting febrile illness with a good prognosis, but there are few cases of coexisting organizing pneumonia. We report a case of organizing pneumonia secondary to Coxiella burnetii infection. METHODS: Percutaneous lung biopsy, Next-generation sequencing (NGS). RESULTS: Percutaneous lung biopsy showed the existence of organizing pneumonia, and external examination of NGS showed the existence of Coxiella burnetii infection. After symptomatic treatment with azithromycin and glucocorticoids, the patient improved and was discharged from the hospital. CONCLUSIONS: For lesions with obvious heterogeneous enhancement on chest CT imaging, percutaneous lung biopsy or bronchoscopy should be performed promptly to obtain pathological tissue, and NGS should be used for definite diagnosis if necessary.

Mycobacterium Tuberculosis Infection in AECOPD Combined with Pulmonary Embolism: a Case Report.

BACKGROUND: Mycobacterium tuberculosis belongs to the group of mycobacteria, most of which can cause a delayed hypersensitivity reaction in the body and is a bacterium that causes tuberculosis. Mycobacterium tuberculosis infection often presents with symptoms of tuberculosis toxicity and rarely with respiratory distress. At the same time, chest imaging often shows an ill-defined solid shadow in the apical and posterior segments of the upper lobe and, less frequently, in the dorsal segment of the lower lobe, and less frequently a diffuse nodular shadow. We report a case of AECOPD combined with pulmonary embolism infected with Mycobacterium tuberculosis. METHODS: Bronchoscopy, Next-generation sequencing (NGS). RESULTS: Antacid staining of bronchoalveolar lavage fluid suggested that a small amount of Mycobacterium antacid was visible. NGS was sent for examination and it suggested the presence of Mycobacterium tuberculosis with a sequence number of 5 (reference range ≥ 0). Treatment such as bronchodilation and antituberculosis was given. CONCLUSIONS: In patients with dyspnea, it is crucial to find the causative agent and to promptly improve relevant examinations such as pulmonary arteriography and bronchoscopy, and if necessary, to make a definitive diagnosis by NGS.

T-SPOT.TB Negative and Diagnosed as Interstitial Pulmonary Tuberculosis by NGS: a Case Report and Literature Review.

BACKGROUND: Tuberculosis is an airborne infectious disease with multiple morphologic changes on chest imaging. Tuberculosis-specific enzyme-linked immunospot assay (T-SPOT.TB) is widely used in the diagnosis of tuberculosis. Clinically, pulmonary tuberculosis with T-SPOT.TB negative and interstitial changes is very rare. METHODS: T-SPOT.TB, pathogenetic testing, chest CT scan, next-generation sequencing (NGS). RESULTS: Laboratory tests showed negative T-SPOT.TB and sputum antacid staining, chest CT showed interstitial fibrosis and multiple high-density shadows in both lungs, and sputum NGS showed Mycobacterium tuberculosis infection. CONCLUSIONS: Negative T-SPOT.TB and interstitial lung changes do not exclude Mycobacterium tuberculosis infection. NGS has a high specificity in the detection of pathogens in infectious diseases, especially in complex, mixed infectious diseases.

Rare Co-Infection of the Lungs with EBV and Pneumocystis Carinii in a Patient with Kidney Cancer: a Case Report.

BACKGROUND: Epstein-Barr virus (EBV) is the primary agent of infectious mononucleosis, lymphoma, and naso-pharyngeal carcinoma, but rarely involves the lungs. Pneumocystis carinii is commonly found in patients with HIV infection and is not pathogenic when the host is healthy, but opportunistic infections can occur when the body is immunocompromised, causing pneumocystis pneumonia (PCP). It is rare for both diseases to occur in the lungs of the same patient. METHODS: Next-generation sequencing (NGS), laboratory examination, chest CT scan, electronic bronchoscopy, and pathogenetic examination were used in this study. RESULTS: Laboratory tests showed (1-3)-ß-D-glucan of 889.47 pg/mL, negative human immunodeficiency virus (HIV) antibody, and negative Aspergillus immunological test. Chest CT showed multiple high-density shadows in both lungs, and EBV infection combined with Pneumocystis carinii pneumonia was confirmed by bronchoscopic biopsy and NGS examination. CONCLUSIONS: Elevated serum (1-3)-ß-D-glucan is not a specific index for infectious diseases. Bronchoscopy and the NGS has high specificity in pathogen detection of infectious diseases.

D-Dimer and Procalcitonin Improve the Sensitivity of BAP-65 Score in Predicting AECOPD Patients Admission to ICU.

BACKGROUND: The study aimed at investigating the effectiveness of the BAP-65 score combined with D-dimer and procalcitonin (PCT) in predicting admission of acute exacerbation chronic obstructive pulmonary disease (AECOPD) patients to the intensive care unit (ICU). METHODS: We conducted a retrospective study. We analyzed data from 369 patients over the age of 40 years ad-mitted to our hospital with AECOPD. All patients received blood routine measurements and BAP-65 score calculation on admission. Receiver operating characteristic curves (ROC) were used to assess the sensitivity and specificity of D-dimer, PCT, and BAP-65 scores and combined metrics in predicting the risk of admissions to the ICU of AECOPD patients. RESULTS: We found that the percentage of patients with AECOPD admitted to the ICU was 32.25% (119/369). The area under the curve (AUC) of D-dimer, PCT, and BAP-65 score in individually predicting the probability of entering the ICU of AECOPD patients were 0.74 (95% CI 0.68 - 0.80), 0.83 (95% CI 0.78 - 0.88), and 0.72 (95% CI 0.66 - 0.79), respectively. The sensitivities of D-dimer, PCT, and BAP-65 score were 0.51, 0.65, and 0.52, respectively. The specificities of D-dimer, PCT, and BAP-65 score were 0.90, 0.91, and 0.92, respectively. The AUC of D-dimer and PCT combined with BAP-65 score was 0.90 (95% CI 0.86 - 0.94), the sensitivity and specificity were 0.90 and 0.80, respectively. CONCLUSIONS: D-dimer and procalcitonin improve the sensitivity of the BAP-65 score in predicting the probability of AECOPD patients entering the ICU while having a good specificity.

Non-Tuberculous Mycobacteria with Enlarged Mediastinal Lymph Node by Next Generation Sequencing: Case Report.

BACKGROUND: A young patient characterized by rapid enlargement of mediastinal lymph nodes was diagnosed as non-tuberculous mycobacterial pulmonary disease (NTM-PD) by bronchoalveolar lavage fluid Next Generation Sequencing (NGS). METHODS: Laboratory examination, Chest CT scan, electronic bronchoscopy, and endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) were performed to diagnose non-tuberculous mycobacterium pulmonary disease. RESULTS: Detection of bird-intracellular mycobacterium complex in bronchoalveolar lavage fluid by NGS. Chest CT scan showed multiple enlarged lymph nodes in mediastinum. 4R region TBNA: chronic granulomatous inflammation, positive bacilli were found by acid-fast staining. After the anti-NTM treatment, the symptoms of the patients were relieved. CONCLUSIONS: When the patient shows mediastinal lymph node enlargement of unknown cause, NTM-PD can be considered and NGS can be used to assist in the diagnosis.