Neurofibromatosis type 1 (NF1) presents with a diverse range of symptoms that can affect the skin, bones, eyes, central nervous system, and other organs. This article reports the diagnosis and treatment process of a patient with NF1 complicated by bilateral severe-to-profound sensorineural hearing loss. Genetic testing revealed a heterozygous variant of NF1 NM_ 000267.3: c.4054_ 4058del(p.Ser1352LeufsTer20, supporting the diagnosis of NF1. After thorough evaluation, a right cochlear implantation was performed, yielding satisfactory postoperative results. This case suggests that NF1 patients may exhibit phenotypic heterogeneity and atypicality, providing a reference for clinicians in the diagnosis and treatment of such patients.

Objective:To explore the clinical characteristics and experiences in diagnosis and treatment of severe hand injuries caused by chaff cutters.Methods:A retrospective analysis was conducted on 60 patients (193 digits) who had mangled hand injuries caused by chaff cutters and admitted to the Department of Upper Limb Repair and Reconstruction, Beijing Jishuitan Hospital Guizhou Hospital between January 2015 and June 2022. The patients were 39 males and 21 females, with 10 to 72 (mean 42.6) years old of age. The injuries involved 41 right hands and 19 left hands. The extent of hand injuries of soft tissue and bones varied from digit-tips to wrist. Among them, 5 digits were completely destroyed in 8 cases, 3 digits including thumb were destroyed in 12 cases, 4 digits including thumb were destroyed in 10 cases, 3 or more fingers without thumb were destroyed in 8 cases, simple hand destroyed in 8 cases, digits and palm destroyed in 8 cases, and total hand destroyed in 6 cases. The sizes of wound ranged from 1.8 cm×2.0 cm to 6.8 cm×15.6 cm. Based on the wound contamination and conditions of tissue damage, surgical treatment included debridement, stump trimming, in-situ replantation, transpositional replantation, venous bridging flap transfer and emergency or phased free second toe and free flap transfers. The flap sizes were 3.0 cm×5.0 cm-7.0 cm×16.0 cm. Both the reconstructed and flap donor sites were primarily closed in one stage. Postoperative follow-ups were conducted through regular visits of outpatient clinic or via WeChat interviews. The survival and functional recovery of flap and finger were observed.Results:Of the 60 patients, emergency orthotopic replantation of 112 digits were performed with survival of 96 digits; 16 digits transposition replantation were carried out with 12 survived; 5 digits received venous bridging flap transfer with 4 survived; all 5 Flow-through anteriolateral thigh perforator flaps (ALTPFs) were survived; all of 12 phase II digit reconstructions with free second toe transfer survived; and all 18 phase II free flap transfers survived [10 ALTPFs and 8 superficial circumflex iliac artery perforator flaps(SCIAPFs)]. Postoperative complications such as wound exudation and fever happened in 8 patients, and all were rectified after debridement and symptomatic anti-infection treatment. The follow-up ranged 6 to 18 months, with 12 months in average. Hand functions were assessed using the Michigan Hand Outcomes Questionnaire (MHQ), and the scores achieved at 20.3 to 72.8 points, with 42.6 points ± 16.6 points in average.Conclusion:Severe hand injuries caused by chaff cutters are severe and complicated. A thorough assessment of wound contamination and residual digits and tissues are required. Successful surgical outcomes can be achieved through emergency and elective surgery with multiple microsurgical techniques and multi-phased surgical reconstructions, although overall functional recovery of the injured hand is often not quite realistic.

BACKGROUND: Previous studies have examined the bulk transcriptome of peripheral blood immune cells in acquired immunodeficiency syndrome patients experiencing immunological non-responsiveness. This study aimed to investigate the characteristics of specific immune cell subtypes in acquired immunodeficiency syndrome patients who exhibit immunological non-responsiveness. METHODS: A single-cell transcriptome sequencing of peripheral blood mononuclear cells obtained from both immunological responders (IRs) (CD4 + T-cell count >500) and immunological non-responders (INRs) (CD4 + T-cell count <300) was conducted. The transcriptomic profiles were used to identify distinct cell subpopulations, marker genes, and differentially expressed genes aiming to uncover potential genetic factors associated with immunological non-responsiveness. RESULTS: Among the cellular subpopulations analyzed, the ratios of monocytes, CD16 + monocytes, and exhausted B cells demonstrated the most substantial differences between INRs and IRs, with fold changes of 39.79, 11.08, and 2.71, respectively. In contrast, the CD4 + T cell ratio was significantly decreased (0.39-fold change) in INRs compared with that in IRs. Similarly, the ratios of natural killer cells and terminal effector CD8 + T cells were also lower (0.37-fold and 0.27-fold, respectively) in the INRs group. In addition to several well-characterized immune cell-specific markers, we identified a set of 181 marker genes that were enriched in biological pathways associated with human immunodeficiency virus (HIV) replication. Notably, ISG15 , IFITM3 , PLSCR1 , HLA-DQB1 , CCL3L1 , and DDX5 , which have been demonstrated to influence HIV replication through their interaction with viral proteins, emerged as significant monocyte marker genes. Furthermore, the differentially expressed genes in natural killer cells were also enriched in biological pathways associated with HIV replication. CONCLUSIONS We generated an atlas of immune cell transcriptomes in HIV-infected IRs and INRs. Host genes associated with HIV replication were identified as markers of, and were found to be differentially expressed in, different types of immune cells.
Humans ; Acquired Immunodeficiency Syndrome ; Transcriptome/genetics* ; HIV ; HIV Infections/genetics* ; Leukocytes, Mononuclear/metabolism* ; CD4-Positive T-Lymphocytes/metabolism* ; Virus Replication ; Membrane Proteins/metabolism* ; RNA-Binding Proteins/metabolism*

Objective:To investigate and analyze the energy metabolism characteristics and the correlation between energy metabolism and the risk of secondary bacterial infection in patients with hepatitis B virus-related chronic liver disease (HBV-CLD).Methods:Data of 183 cases admitted to the Mengchao Hepatobiliary Hospital of Fujian Medical University from November 2017 to November 2020 were retrospectively analyzed. 79 cases of chronic hepatitis B, 51 cases of hepatitis B-related liver cirrhosis, and 53 cases of hepatitis B-related liver failure were collected. Among them patients with liver failure and decompensated liver cirrhosis were defined as severe liver disease group. The Quark RMR indirect calorimetry (COSMED Corporation, Italy) was used to exam the patients' energy metabolism condition, and the incidences of secondary bacterial infection of the patients during hospitalization were recorded. Shapiro-Wilk test and normal QQ plot were used to analyze the normal distribution of continuous variable data, which was consistent with the normal distribution and was described by mean ± standard deviation. In addition, if it did not conform to the normal distribution, the median and interquartile distance were used to describe it. Levene’s test was used to test the homogeneity of variance of the data, which was consistent with the normal distribution. The t-test was used to compare the means of the two groups of samples. One-way analysis of variance was used to compare the mean values of the three groups of samples, and then the Tukey's test was used to compare the two groups. If the variance was uneven or did not conform to the normal distribution, the Wilcoxon rank sum test was used to compare the differences between the two groups. Kruskal-Wallis test (H test) was used to compare the differences between the three groups of samples, and then the Dunnett’s test (Z test) was used for comparison between the two groups. Categorical variable data were analyzed using chi-square test. Logistic regression analysis was used to screen independent risk factors, and the criteria for variable inclusion ( P < 0.05). Results:The respiratory entropy (RQ) and non-protein respiratory entropy (npRQ) of the three groups had statistically significant difference ( P < 0.05). Among them, the RQ and npRQ of the chronic hepatitis B group were higher than hepatitis B-related liver cirrhosis group and hepatitis B-related liver failure group. There were statistically significant differences in fat oxidation rate (FAT%) and carbohydrate oxidation rate (CHO%) between the three groups ( P < 0.05). Compared with hepatitis B-related liver cirrhosis group and hepatitis B-related liver failure group, chronic hepatitis B group ( P < 0.05) had lower FAT% and higher CHO%. There were no statistically significant differences in the measured and predicted resting energy expenditure and protein oxidation rate (PRO%) between the three groups. The incidence of secondary bacterial infection in patients with severe liver disease was 48.39% (45/93). Compared with the non-infected group, the RQ and npRQ values ??of the infected group were significantly decreased ( P < 0.05), while FAT% was significantly increased ( P < 0.05). Logistic regression analysis showed that glutamyltransferase, cholesterol, and npRQ were independent risk factors for secondary bacterial infections in patients with severe liver disease. Glutamyltransferase elevation, and cholesterol and npRQ depletion had suggested an increased risk of secondary bacterial infection. Subgroup analysis of patients with hepatitis B-related liver failure also showed that compared with non-infected group, RQ value and npRQ value of secondary bacterial infection group were significantly decreased ( P < 0.05), while FAT% was significantly increased ( P < 0.05). Conclusion:Patients with hepatitis B virus-related chronic liver disease generally have abnormal energy metabolism. Low RQ, npRQ, CHO% and high FAT% are related to the severity of the disease; while npRQ reduction is related to the risk of secondary bacterial infection in patients with severe liver disease, and thus can be used as a clinical prognostic indicator.

To determine the value of radiomics in identifying lymph node (LN) metastasis in patients with rectal nonmucinous adenocarcinoma.
 Methods: Imaging data of 91 patients were retrospectively analyzed (61 in the training set and 30 in the test set). A total of 1 301 radiomics features were extracted from high-resolution T2-weighted images of the whole primary tumor. The least absolute shrinkage and selection operator (LASSO) logistic regression was performed to choose the optimal features and construct a radiomics classifier in the training set. Its discrimination performance was compared with that of morphological criteria by receiver operating characteristic (ROC) curve analysis, which was validated in the test set.
 Results: The radiomics classifier combined with five key features was significantly associated with LN metastasis, which distinguished LN metastasis with an area under curve (AUC) at 0.874 (95% CI 0.787 to 0.960) in the training set, and the performance was similar in the test set (AUC 0.878, 95% CI 0.727 to 1.000). The AUCs according to the morphological criteria in the training set and test set were 0.619 (95% CI 0.487 to 0.752) and 0.556 (95% CI 0.355 to 0.756), respectively. Discrimination of the radiomics classifier was superior to that of morphological criteria in both the two datasets (both P <0.05).
 Conclusion: The radiomics classifier provides individualized risk estimation for LN metastasis in rectal nonmucinous adenocarcinoma patients and it has the advantage over the morphological criteria.
Adenocarcinoma ; Humans ; Lymph Nodes ; Lymphatic Metastasis ; Rectal Neoplasms ; Retrospective Studies

Objective To analyze the epidemiological and clinical characteristics of 5 patients with importing yellow fever ,and to explore the preventive and control strategies of infection in hospital .Methods The epidemiological and clinical characteristics of 5 cases of importing yellow fever in Infectious Disease Hospital of Fujian Medical University from March 18th to April 6th in 2016 were retrospectively reviewed and analyzed .Results Five patients were all from Angola Luanda .One of them was vaccinated before going aboard ,and the others were vaccinated 1—10 days before disease onset in Angola .All of them were bitten by mosquitoes ,and their onset date ranged from March 11th to March 27th ,before returned to Fujian .The main clinical symptoms were fever ,chilly ,shivering ,fatigue ,arthrodynia ,headache ,and liver and kidney injury .At manifestations ,two patients had positive nuclear acid of yellow fever virus in serum samples and 3 patients were positive in urine samples .All of these patients were negative for dengue virus and Zika virus testing ,meanwhile no plasmodium was found in blood smears .All patients were cured and discharged . Conclusions There is risk of yellow fever transmission in Fujian Province . Prevention and control of the disease should be focus on improving the ability of finding and coping with the importing cases .Vaccination and hygiene knowledge propagation should be given for those who are going to epidemic country/area .Emergency monitoring and control of mosquitoes are necessary .

A method for simultaneous determination of 20 Perfluorinated alkyl substances ( PFAS) in animal liver using QuEChERs and HPLC_MS/MS technique was developed. The samples were extracted with 0. 1%hydrochloric acetonitrile and cleaned up with C18 , N_Propylethylendiamine ( PSA ) and graphitized carbon blacks ( GCB ) . The analytes were separated by a reversed phase C18 column and gradiently eluted with a mixed solution of 5 mmol/L ammonium acetate methanol and 5 mmol/L ammonium acetate. The samples were quantified using isotope internal standard and external standard with the matrix matched standard calibration curve method. Good linearity was obtained for all the 20 PFAS at the concentration of 0. 1-10 μg/L with the linear correlation coefficients more than 0. 9995. The limits of detection (LOD) and the limits of quantification ( LOQ) for PFAS were 0. 05-0. 2 μg/kg and 0. 4-0. 5 μg/kg, respectively. The recoveries at three different concentration levels ( 0 . 5 , 2 and 5 μg/kg ) were in the range of 70 . 3% -108 . 1%. The repeatability expressed as relative standard deviations (RSD) was ranged from 2. 1% to 11. 9% (n=6).

Objective To understand the cue-induced craving, physiological reactions to heroin-related cues, and to explore the factors that impact the cue-induced craving. Methods 369 abstinent heroin addicts were exposed to videotapes of heroin using and simulacrum after the self relaxation. The craving, abstinent symp-toms were measured before and after cue exposures. The physiological reactions were measured by multi-biofeed-back instrument before, during, and after cue exposure. BIS-Ⅱ questionnaire was used to collect information about their impulsive characteristic. Results After cue exposure, the self-reports scores of craving (t=11.24, P< 0.01), physiological index including heart rate((76.6±11.3) beats/min, F=19.23), skin conduct ((7.48± 4.25)μs, F=53.99), pupil size (t=11.73) had significant change in heroin addicts (P<0.01). Logistic regres-sion results showed that the scores of BIS-Ⅱ were related to cue-reduced craving (P=0.001,95% CI: 1.015～1. 065). Conclusions Exposure to drug-related cues can induces craving and physiological reactions in long term abstinence heroin addicts. High impulsive characteristic is a risk factor to induce drug-related craving. The inter-vention strategies should consider the impulsive characteristic and make a comprehensive intervention program to prevent relapse.

Objective:To understand whether or not biofeedback therapy(BT)and cue- exposure therapy(CET)could decrease craving and heroin-related cue reactivity in abstinent heroin dependents.Methods:Adopting stratified sampling means,60 abstinent heroin dependents whose craving increased after cue exposed,were allocated to experiment group(n=36)and control group(n=24).The control group dependents received assistance and education.Beside the assistance and education,the experiment group also received 12 times combination therapies of BT and CET.Results:After therapies,the experiment group dependents' craving,EMG and skin conductance(SC)were all decreased compared with control group before cue exposures and after cue exposures[Before cue exposures,the indexes were:craving(3.06±7.26)mm vs.(22.32±20.26)mm;EMG(8.52±4.23)μV vs.(12.06±5.17)μV,SC(2.14±1.43)μS vs.(4.61±2.24)μS.After cue exposures the indexes were:craving(6.97±10.30)mm vs.(33.14±25.40)mm,MEG(8.72±4.31)μV vs.(14.79±5.86)μV,SC(2.15±1.33)μS vs.(4.49±2.59)μS;Ps≤0.01.Conclusion:The combination of biofeedback therapy and cue-exposure therapy could decrease the dependents' craving and cue reactivity sensitivity.