A novel variant in the FLCN gene in a Chinese family with Birt-Hogg-Dubé syndrome.

BACKGROUND: This study aimed to identify disease-causing variants within a Chinese family affected by Birt-Hogg-Dubé syndrome (BHDS), which arises from an autosomal dominant inheritance pattern attributed to variants in the folliculin (FLCN) gene, recognized as a tumor suppressor gene. METHODS: A Chinese proband diagnosed with BHDS due to renal tumors underwent next-generation sequencing (NGS), revealing a novel variant in the FLCN gene. Sanger sequencing was subsequently performed on blood samples obtained from family members to confirm the presence of this variant. RESULTS: A novel germline frameshift variant (NM_144997.5:c.977dup) was identified in five individuals among the screened family members, marking the first report of this variant. Additionally, a somatic frameshift variant (NM_144997.5:c.1252del) was detected in the renal tumors of the proband. No variant was detected in unaffected family members. CONCLUSIONS: A novel heterozygous variant was identified in exon 9 of the FLCN gene, which broadens the spectrum of FLCN variants. We recommend that molecular analysis of the FLCN gene be performed in patients with suspected BHDS and their families.

YAP promotes the early development of temporomandibular joint bony ankylosis by regulating mesenchymal stem cell function.

To explore the role of YAP, a key effector of the Hippo pathway, in temporomandibular joint (TMJ) ankylosis. The temporal and spatial expression of YAP was detected via immunohistochemistry and multiplex immunohistochemistry on postoperative Days 1, 4, 7, 9, 11, 14 and 28 in a sheep model. Isolated mesenchymal stem cells (MSCs) from samples of the Day 14. The relative mRNA expression of YAP was examined before and after the osteogenic induction of MSCs. A YAP-silenced MSC model was constructed, and the effect of YAP knockdown on MSC function was examined. YAP is expressed in the nucleus of the key sites that determine the ankylosis formation, indicating that YAP is activated in a physiological state. The expression of YAP increased gradually over time. Moreover, the number of cells coexpressing of RUNX2 and YAP-with the osteogenic active zone labelled by RUNX2-tended to increase after Day 9. After the osteogenic induction of MSCs, the expression of YAP increased. After silencing YAP, the osteogenic, proliferative and migratory abilities of the MSCs were inhibited. YAP is involved in the early development of TMJ bony ankylosis. Inhibition of YAP using shRNA might be a promising way to prevent or treat TMJ ankylosis.

Additive-assisted synthesis of α-Kdo glycosides with peracetylated glycosyl ynenoate as a donor.

A DMF-modulated glycosylation approach for the stereoselective synthesis of α-Kdo glycosides with readily accessible peracetylated Kdo ynenoate as a donor was described. By utilizing this approach, we completed the synthesis of various linkage types of Kdo-Kdo disaccharides and the α-Kdo-containing protected trisaccharide variant relevant to the lipopolysaccharide of Coxiella burnetii strain Nine Mile.

Promoting the four electrocatalytic reactions of OER/ORR/HER/MOR using a multi-component metal sulfide heterostructure for zinc-air batteries and water-splitting.

Multi-component metal sulfide heterostructures are promising for multi-functional catalytic activities. In this work, we fabricated a multi-component metal sulfide heterostructure (Co-S-INF, composed of Co3S4 and (Fe, Ni)9S8) with nanoflower morphology clustered with numerous nanosheets by the electrodeposition of cobalt on iron-nickel foam followed by hydrothermal sulfurization treatment. Co-S-INF possesses high multi-functional electrocatalytic properties toward the oxygen evolution reaction (OER), oxygen reduction reaction (ORR), hydrogen evolution reaction (HER), and methanol oxidation reaction (MOR). In particular, the ORR potential at 10 mA cm-2 is 0.682 V, and the OER, HER, and MOR potentials at 100 mA cm-2 are 1.478 V, 0.289 V, and 1.417 V, respectively. By using Co-S-INF, the aqueous ZAB with an ultrahigh peak power density of 332.30 mW cm-2 and an overall water splitting (OWS) device with a low splitting voltage of 1.82 V at 100 mA cm-2 can be obtained. In addition, the OWS potential can be further decreased to 1.70 V at a current density of 100 mA cm-2 with the assistance of MOR at the anode accompanying the production of the high value-added formate. Our work opens the way for the application and development of multi-functional electrocatalysts.

Recycling the Spent LiNi1- x - yMnxCoyO2 Cathodes for High-Performance Electrocatalysts toward Both the Oxygen Catalytic and Methanol Oxidation Reactions.

The traditional recycling methods of the spent lithium ion batteries (LIBs) involve the intricate and cumbersome steps. This work proposes a facile method of acid leaching followed by the sulfurization treatment to achieve the high Li leaching efficiency, and obtain high-performance multi-function electrocatalysts for oxygen reduction (ORR), oxygen evolution (OER), and methanol oxidation reactions (MOR) from the spent LIB ternary cathodes. By this method, the Li leaching efficiency from the spent LIB ternary cathode can reach 98.3%, and the transition metal sulfide heterostructures (LNMCO-H-450S) consisting MnS, NiS2, and NiCo2S4 phases can be obtained. LNMCO-H-450S shows the superior bifunctional oxygen catalytic activities with ORR half-wave potential of 0.763 V and OER potential at 10 mA cm-2 of 1.561 V, surpassing most of the state-of-the-art electrocatalysts. LNMCO-H-450S also demonstrates the superior MOR catalytic activity with the potential at 100 mA cm-2 being 1.37 V. Using LNMCO-H-450S as the oxygen catalyst, this work can construct the aqueous and solid-state zinc-air batteries with high power density of 309 and 257 mW cm-2, respectively. This work provides a promising strategy for the efficient recovery of Li, and reutilization of Ni, Co, and Mn from the spent LIB ternary cathodes.

Prophylactic effects of Periplaneta americana L. extract on anxiety-like and depression-like behaviors in rats exposed to chronic stress.

The effect of P. americana L. on anxiety and depression-behavior after chronic stress (CS) is still unknown. Here, CS were induced by a combined stimulation of chronic restraint stress, excess failure and improper diet in SD rats. At 15 days after CS, except for normal group and model group, all the groups were continuously administrated P. americana L. (i.g., 400, 200, 100 mg/kg) treatment for 14 days. Anxiety and depression-behavior was determined by sucrose preference test, forced swimming and open field. The contents of cortisol (CORT), adrenocorticotropic hormone (ACTH), adrenocorticotropic hormone-releasing hormone (CRH), interleukin (IL)-4, IL-6, IL-17 and interferon (IFN) -γ were detected by ELISA. 16S rRNA analysis was performed to examine the composition of gut microbiota. Our results indicated that P. americana L. improved the anxiety and depression-behavior. P. americana L. reduced the release of IL-6, IL-17 and IFN-γ and increased the release of IL-4. Comparably, remarkably decreased CRH, ACTH and CORT were observed by the treatment of P. americana L. 16S rRNA analysis suggested that Bifidobacterium and sulfate-reducing bacteria may be responsible for improving CS in P. americana L. -treated rats. Collectively, P. americana L. could relieve CS are associated with regulation of intestinal flora.

Development and validation of a prognostic model incorporating tumor thrombus grading for nonmetastatic clear cell renal cell carcinoma with tumor thrombus: A multicohort study.

There is significant variability with respect to the prognosis of nonmetastatic clear cell renal cell carcinoma (ccRCC) patients with venous tumor thrombus (VTT). By applying multiregion whole-exome sequencing on normal-tumor-thrombus-metastasis quadruples from 33 ccRCC patients, we showed that metastases were mainly seeded by VTT (81.8%) rather than primary tumors (PTs). A total of 706 nonmetastatic ccRCC patients with VTT from three independent cohorts were included in this study. C-index analysis revealed that pathological grading of VTT outperformed other indicators in risk assessment (OS: 0.663 versus 0.501-0.610, 0.667 versus 0.544-0.651, and 0.719 versus 0.511-0.700 for Training, China-Validation, and Poland-Validation cohorts, respectively). We constructed a risk predicting model, TT-GPS score, based on four independent variables: VTT height, VTT grading, perinephric fat invasion, and sarcomatoid differentiation in PT. The TT-GPS score displayed better discriminatory ability (OS, c-index: 0.706-0.840, AUC: 0.788-0.874; DFS, c-index: 0.691-0.717, AUC: 0.771-0.789) than previously reported models in risk assessment. In conclusion, we identified for the first-time pathological grading of VTT as an unheeded prognostic factor. By incorporating VTT grading, the TT-GPS score is a promising prognostic tool in predicting the survival of nonmetastatic ccRCC patients with VTT.

Promoter-Controlled Synthesis and Conformational Analysis of Cyclic Mannosides up to a 32-mer.

Cyclodextrins are widely used as carriers of small molecules for drug delivery owing to their remarkable host properties and excellent biocompatibility. However, cyclic oligosaccharides with different sizes and shapes are limited. Cycloglycosylation of ultra-large bifunctional saccharide precursors is challenging due to the constrained conformational spaces. Herein we report a promoter-controlled cycloglycosylation approach for the synthesis of cyclic α-(1→6)-linked mannosides up to a 32-mer. Cycloglycosylation of the bifunctional thioglycosides and (Z)-ynenoates was found to be highly dependent on the promoters. In particular, a sufficient amount of a gold(I) complex played a key role in the proper preorganization of the ultra-large cyclic transition state, providing a cyclic 32-mer polymannoside, which represents the largest synthetic cyclic polysaccharide to date. NMR experiments and a computational study revealed that the cyclic 2-mer, 4-mer, 8-mer, 16-mer, and 32-mer mannosides adopted different conformational states and shapes.

Plasma metagenomics reveals regional variations of emerging and re-emerging pathogens in Chinese blood donors with an emphasis on human parvovirus B19.

At present, many infectious pathogens, especially emerging/re-emerging pathogens, exist in the blood of voluntary blood donors and may be transmitted through blood transfusions. However, most of Chinese blood centers only routinely screen for HBV, HCV, HIV, and syphilis. We employed metagenomic next-generation sequencing (mNGS) to investigate the microbiome in healthy voluntary blood donors to help assess blood safety in China by identifying infectious pathogens presented in donations that could lead to transfusion-acquired infections. We collected 10,720 plasma samples from voluntary blood donors from seven blood centers in different cities during 2012-2018 in China. A total of 562 GB of clean data was obtained. By analyzing the sequencing data, it was found that the most commonly identified bacteria found in the healthy blood were Serratia spp. (5.0176%), Pseudomonas spp. (0.6637%), and Burkholderia spp. (0.5544%). The principal eukaryote were Leishmania spp (1.3723%), Toxoplasma gondii (0.6352%), and Candida dubliniensis (0.1848%). Among viruses, Human Parvovirus B19 (B19V) accounts for the highest proportion (0.1490%), followed by Torque teno midi virus (0.0032%) and Torque teno virus (0.0015%). Since that B19V is a non-negligible threat to blood safety, we evaluated the positive samples for B19V tested by mNGS using quantitative polymerase chain reaction, Sanger sequencing, and phylogenetic analysis to achieve a better understanding of B19V in Chinese blood donors. Subsequently, 9 (0.07%) donations were positive for B19V DNA. The quantitative DNA levels ranged from 5.58 × 102 to 7.24 × 104 IU/ml. The phylogenic analyses showed that prevalent genotypes belonged to the B19-1A subtype, which disclosed previously unknown regional variability in the B19V positivity rate. The investigation revealed that many microbes dwell in the blood of healthy donors, including some pathogens that may be dormant in the blood and only cause disease under specific conditions. Thus, investigating the range and nature of potential pathogens in the qualified donations provided a framework for targeted interventions to help prevent emerging and re-emerging infectious diseases.

Comparison of anticoagulation monitoring strategies for adults supported on extracorporeal membrane oxygenation: A systematic review.

BACKGROUND: Anticoagulation is critical in patients supported on extracorporeal membrane oxygenation (ECMO). The appropriate monitoring strategies for heparin remain unclear. OBJECTIVES: This systematic review aimed to compare the accuracy and safety of various monitoring strategies for patients supported on ECMO. METHODS: The PubMed and Web of Science databases were searched for articles in March 2023 without restrictions on publication date. Anticoagulation monitoring strategies for adults supported on ECMO were compared across all included studies. The incidence of bleeding, thrombosis, mortality, blood transfusion, correlation between tests and heparin dose, and the discordance between different tests were discussed in the included studies. The risk of bias was assessed using the Newcastle-Ottawa Scale and Cochrane Collaboration's tool. RESULTS: Twenty-six studies, including a total of 1,684 patients, met the inclusion criteria. The monitoring of anticoagulation by activated partial thromboplastin time (aPTT) resulted in less blood product transfusion than that by activated clotting time (ACT). Moreover, the monitoring of anticoagulation by anti-factor Xa (Anti-Xa) resulted in a more stable anticoagulation than that by aPTT. Anti-Xa and aPTT correlated with heparin dose better than ACT, and the discordance between different monitoring tests was common. Finally, combined monitoring showed some advantages in reducing mortality and blood product transfusion. CONCLUSION: Anti-Xa and aPTT are more suitable for anticoagulation monitoring for patients supported on ECMO than ACT. Thromboelastography and combination strategies are less applied. Most of the studies were retrospective, and their sample sizes were relatively small; thus, more appropriate monitoring strategies and higher quality research are needed.

Mechanisms of conservation tillage on nitrogen-fertilizer reduction and maize grain improvement in Mollisols of Northeast China: Insights from a 15N tracing study.

Conservation tillage is an important management practice to guarantee soil fertility in degraded Mollisols. It is still unclear, however, whether the improvement and stability of crop yield under conservation tillage can be sustainable with increasing soil fertility and reducing fertilizer-N application. Based on a long-term tillage experiment initiated in Lishu Conservation Tillage Research and Development Station by Chinese Academy of Sciences, we conducted a 15N tracing field micro-plot experiment to investigate the effects of reducing nitrogen application on maize yield and fertilizer-N transformation under long-term conservation tillage agroecosystem. There were four treatments, including conventional ridge tillage (RT), no-tillage with 0% (NT0), 100% (NTS) maize straw mul-ching, and 20% reduced fertilizer-N plus 100% maize stover mulching (RNTS). The results showed that after a complete cultivation round, the average percentages of fertilizer N recovery in soil residues, crop usage, and gaseous loss were 34%, 50%, and 16%, respectively. Compared with conventional ridge tillage, no-tillage with maize straw mulching (NTS and RNTS) significantly increased the use efficiency of fertilizer N in current season by 10% to 14%. From the perspective of N sourcing analysis, the average percentage of fertilizer N absorbed by crop parts (including seeds, straws, roots, and cobs) to the total N uptake reached nearly 40%, indicating that soil N pool was the main source of N for crop uptakes. In comparison with conventional ridge tillage, conservation tillage significantly increased total N storage in 0-40 cm by reducing soil disturbance and increasing organic inputs, and thus ensured the expansion and efficiency increment of soil N pool in degraded Mollisols. Compared with conventional ridge tillage, NTS and RNTS treatments significantly increased the maize yield from 2016 to 2018. In all, by improving fertilizer nitrogen utilization efficiency and maintaining the continuous supply of soil nitrogen, long-term management of no-tillage with maize straw mulching could achieve a stable and increasing maize yield in three consecutive growing seasons and simultaneously reduce environmental risks derived by fertilizer-N losses, even under the condition of 20% reduction of fertilizer-N application, and thus actualize the sustainable development of agriculture in Mollisols of Northeast China.

Oncologic safety of the pedicled submental island flap for reconstruction in oral tongue squamous cell carcinoma: An analysis of 101 cases.

OBJECTIVE: To evaluate whether the pedicle submental island flap (SIF) can be safely used in the oral tongue squamous cell carcinoma (OTSCC) patients with pathologically node-positive (pN+) neck, especially pN+ at level I. METHODS: Retrospectively, 101 OTSCC patients with SIF reconstruction were enrolled. Oncological outcomes included the total locoregional recurrence, the SIF related locoregional recurrence (SRLR) which referred to the local recurrence at flap and ipsilateral neck recurrence at level I, recurrence free survival (RFS), overall survival (OS), and disease specific survival (DSS). RESULTS: Sixty-one patients were pathologically node-negative (pN0) and 40 were pN+. Thirteen patients experienced locoregional recurrence, of which 5 had a SRLR. The pN+ group had a significantly higher locoregional recurrence rate, lower 5-year RFS, OS and DSS than pN0 group (P < 0.05). Patients with pN0 had a significantly higher neck RFS when compared to those with pN+ either at level I (P = 0.005) or at other levels (P < 0.001). However, the neck RFS was similar between the two subgroups of pN+ (P = 0.550). Especially, patients with pN+ at level I had a significantly higher SRLR rate (P = 0.006) compared to those with pN0 at level I. Multivariate analysis showed that pN+ was an unfavorable factor for tumor recurrence and OS. CONCLUSION: Our data did not support the use of SIF in OTSCC patients with pN+ neck at level I due to an significantly increased SRLR rate compared to those with pN0 neck at level I.

Suppressing the Surface Amorphization of Ba0.5Sr0.5Co0.8Fe0.2O3-δ Perovskite toward Oxygen Catalytic Reactions by Introducing the Compressive Stress.

Ba0.5Sr0.5Co0.8Fe0.2O3-δ (BSCF) perovskite has been recognized as a promising oxygen evolution reaction (OER) catalyst due to its superior intrinsic catalytic activity. However, BSCF suffers from serious degradation during the OER process due to its surface amorphization caused by the segregation of A-site ions (Ba2+ and Sr2+). Herein, we construct a novel BSCF composite catalyst (BSCF-GDC-NR) by anchoring the gadolinium-doped ceria oxide (GDC) nanoparticles on the surface of a BSCF nanorod by a concentration-difference electrospinning method. Our BSCF-GDC-NR has greatly improved bifunctional oxygen catalytic activity and stability toward both oxygen reduction reaction (ORR) and OER compared with the pristine BSCF. The improvement of the stability can be related to that anchoring GDC on BSCF effectively suppresses the segregation and dissolution of A-site elements in BSCF during the preparation and catalytic processes. The suppression effects are ascribed to the introduction of compressive stress between BSCF and GDC, which greatly inhibits the diffusions of Ba and Sr ions. This work can give a guidance for developing the perovskite oxygen catalysts with high activity and stability.

Prognostic value of systemic immune-inflammation index in non-metastatic clear cell renal cell carcinoma with tumor thrombus.

This study aims to determine the prognostic value of SII for non-metastatic clear cell renal cell carcinoma (ccRCC) patients with venous tumor thrombus (VTT). We retrospectively collected and analyzed 328 non-metastatic ccRCC patients with VTT who underwent radical nephrectomy and thrombectomy from 3 tertiary centers in China between 2011 to 2021. Kaplan-Meier analyses and Cox proportional hazard analyses were used to determine its prognostic value for overall survival (OS) and disease free survival (DFS). The Harrell concordance index (C-index), receiver operating characteristic curve (ROC) analysis, and decision curve analysis (DCA) were used to evaluate its role in the improvement of prognostic accuracy of the existing models. Nomogram models containing the SII were then developed and evaluated by R. Patients were divided into low-SII and high-SII groups based on the SII optimal cut-off value 912 calculated by the Youden index in all patients. Higher SII was correlated with more symptoms, longer surgical time, higher WHO/ISUP grade, and longer tumor diameter. Kaplan-Meier analyses revealed significant differences in OS and DFS between two groups. Multivariate analyses revealed that SII was an independent prognostic factor for OS (HR:2.220, p=0.002) and DFS (HR:1.846, p=0.002). Compared with other indicators, SII had a superior accuracy (c-index=0.630 for OS and 0.595 for DFS). It also improved the performance of models for predicting OS and DFS (all p <0.01). Based on the results of LASSO Cox regression analysis, we constructed a nomogram to predict OS and it performed well on both the training cohort (AUC=0.805) and the validation cohort (AUC=0.795). Risk stratification based on nomogram can distinguish patients with different risks (all p <0.001). Preoperative SII is an independent predictive factor for OS and DFS of non-metastatic ccRCC patients with VTT. It can be used to improve the performance of current risk models.

Clinical characteristics and prognosis of paroxysmal sympathetic hyperactivity in patients with severe nontraumatic brain injury.

OBJECTIVE: This prospective study investigated and analyzed the clinical characteristics and prognosis of paroxysmal sympathetic hyperactivity (PSH) in patients with severe nontraumatic brain injury. METHODS: Patients presenting with severe nontraumatic brain injury with PSH from July 2018 to June 2019 were enrolled. A PSH assessment measure ≥ 8 points was used as the criterion for PSH. Clinical data, indicators related to PSH, treatment effects and the prognosis were prospectively collected and analyzed. RESULTS: A total of 220 patients with severe nontraumatic brain injury were analyzed, and PSH occurred in 8 patients (3.6%).     The primary neurological diseases included acute cerebral infarction, anti-N-methyl-D-aspartate receptor encephalitis, hypoxic encephalopathy and acute disseminated encephalitis. The Glasgow Coma Scale score was lower than 8 in the 8 patients with PSH. Seven of these eight patients had a Glasgow outcome scale (GOS) score of 3 or less than 3, and one patient had a GOS of 5 after 6 months. The medicines that effectively controlled PSH included dexmedetomidine, clonazepam, midazolam and diazepam. CONCLUSIONS: Although the incidence was lower for nontraumatic brain injury complicated with PSH than for traumatic brain injury, patients with PSH had a more severe disease state and poorer prognoses. Dexmedetomidine might effectively control PSH.

IDENTIFICATION OF SUBPHENOTYPES OF SEPSIS-ASSOCIATED LIVER DYSFUNCTION USING CLUSTER ANALYSIS.

ABSTRACT: Objectives: We attempted to identify and validate the subphenotypes of sepsis-associated liver dysfunction (SALD) using routine clinical information. Design: This article is a retrospective observational cohort study. Setting: We used the Medical Information Mart for Intensive Care IV database and the eICU Collaborative Research Database. Patients: We included adult patients (age ≥18 years) who developed SALD within the first 48 hours of intensive care unit (ICU) admission. We excluded patients who died or were discharged from the ICU within the first 48 hours of admission. Patients with abnormal liver function before ICU admission were also excluded. Measurements and Main Results: Patients in the MIMIC-IV 1.0 database served as a derivation cohort. Patients in the eICU database were used as validation cohort. We identified four subphenotypes of SALD (subphenotype α, ß, γ, δ) using K-means cluster analysis in 5234 patients in derivation cohort. The baseline characteristics and clinical outcomes were compared between the phenotypes using one-way analysis of variance/Kruskal-Wallis test and the χ 2 test. Moreover, we used line charts to illustrate the trend of liver function parameters over 14 days after ICU admission. Subphenotype α (n = 1,055) was the most severe cluster, characterized by shock with multiple organ dysfunction (MODS) group. Subphenotype ß (n = 1,179) had the highest median bilirubin level and the highest proportion of patients with underlying liver disease and coexisting coagulopathy (increased bilirubin group). Subphenotype γ (n = 1,661) was the cluster with the highest mean age and had the highest proportion of patients with chronic kidney disease (aged group). Subphenotype δ (n = 1,683) had the lowest 28-day and in-hospital mortality (mild group). The characteristics of clusters in the validation cohort were similar to those in the derivation cohort. In addition, we were surprised to find that GGT levels in subphenotype δ were significantly higher than in other subphenotypes, showing a different pattern from bilirubin. Conclusions: We identified four subphenotypes of SALD that presented with different clinical features and outcomes. These results can provide a valuable reference for understanding the clinical characteristics and associated outcomes to improve the management of patients with SALD in the ICU.

Progress of diagnosis and treatment for gastrointestinal neuroendocrine neoplasms / 肿瘤研究与临床

Gastrointestinal neuroendocrine neoplasm (GI-NEN) is an important part of digestive system tumor. With the progress of diagnosis and the further understanding of GI-NEN, the diagnostic rate is increasing. However, GI-NEN is a rare tumor, thus clinicians are not familiar with the diagnosis and treatment. Misdiagnosis and missed diagnosis of GI-NEN often occur, and the treatment regimen is not standardized. In recent years, some progresses of the diagnosis and treatment have been made in GI-NEN, especially in the aspects of pathology, imaging diagnosis, radionuclide therapy, targeted therapy and immunotherapy, which have improved the diagnosis rate and efficacy for GI-NEN. This paper reviews recent literatures of GI-NEN, summarizes its epidemiology, pathological diagnosis, image diagnosis, surgery, targeted therapy, radionuclide therapy, chemotherapy, immunotherapy, and separates GI-NEN into metastatic and non-metastatic groups for detailed review to provide a reference for guiding clinical diagnosis and treatment as well as exploring the new treatment regimens of GI-NEN.

Clinical observation of acupuncture with host-guest combination using Yuan-Primordial and Luo-Connecting points plus Tuina for the third lumbar transverse process syndrome / 针灸推拿医学（英文版）

Objective: To observe the effects of acupuncture at Yuan-Primordial and Luo-Connecting points by host-guest combination plus Tuina (Chinese therapeutic massage) on the third lumbar transverse process syndrome. Methods: A total of 88 patients with the third lumbar transverse process syndrome were selected and divided into an observation group and a control group according to the random number table method, with 44 cases in each group. The control group was treated with Tuina, and the observation group was treated with additional acupuncture at Yuan-Primordial and Luo-Connecting points by host-guest combination. The clinical efficacy of the two groups was compared after treatment. The changes in the scores of physical signs, Roland-Morris disability questionnaire (RMDQ), Oswestry disability index (ODI), Quebec back pain disability scale (QBPDS), and pain factors [including serum prostaglandin (PG) E2, neuropeptide Y (NPY), and matrix metalloproteinase-3 (MMP-3)] were observed. Results: After treatment, the total effective rate in the observation group was 93.2％, higher than 75.0％ in the control group; the difference between the two groups was statistically significant (P<0.05). Compared with those before treatment, the scores of physical signs and each low back pain scale, and the levels of serum pain factors in the two groups were decreased (P<0.05), and those in the observation group were lower than those in the control group (P<0.05). Conclusion: Acupuncture at Yuan-Primordial and Luo-Connecting points by host-guest combination plus Tuina is effective in the treatment of the third lumbar transverse process syndrome; it can improve the patient's physical signs, relieve low back pain, and reduce the levels of serum pain factors.

Adult hemophagocytic syndrome with mutations in UNC13D and MYO5A genes: a case report and literature review / 中国综合临床

Objective:To explore the pathogenesis of primary hemophagocytic syndrome with UNC13D and MYO5A gene mutations.Methods:A case of adult hemophagocytic syndrome with gene mutation of UNC13D and MYO5A admitted to The 940th Hospital of the Joint Logistic Support Force of the PLA on January 28, 2022 was retrospectively analyzed in terms of laboratory examination, gene atlas of its close relatives and prognosis, and related literature was reviewed.Results:The patient was finally diagnosed with primary hemophagocytic syndrome, and chemotherapy was performed twice with hemophagocytic lymphohistiocytosis(HLH)-2004 regimen. The HLA matching of his cytoplasm was semi-compatible. Considering that his cytoplasm carried blood-macrophage related genes, it was not suitable to be selected as a donor, and there were no other suitable relatives. He was transferred to another hospital for allogeneic hematopoietic stem cell transplantation, but failed to receive allogeneic hematopoietic stem cell transplantation during telephone follow-up, and died.Conclusion:The gene mutation of primary hemophagocytic syndrome is the gold standard for the diagnosis of primary HLH. There may be dual gene inheritance pattern in primary HLH, and the combination of immune disorder caused by viral infection and genetic factors may lead to the pathogenesis of primary HLH.

Characteristics of genetic variants in 134 patients with Acute myeloid leukemia / 中华医学遗传学杂志

OBJECTIVE@#To analyze the characteristics of genetic variants in 134 patients diagnosed with Acute myeloid leukemia (AML).@*METHODS@#Clinical data of the 134 patients with AML (non-acute promyelocytic leukemia) initially diagnosed at the 940th Hospital of the Joint Logistics Support Force of the Chinese People's Liberation Army from June 2017 to June 2022 were retrospectively analyzed. Potential variants of AML-related genes were detected by next-generation sequencing, and the frequency of variants was analyzed by using SPSS v26.0 software, and likelihood ratio χ2 test and Fisher exact test were used for data analysis.@*RESULTS@#The patients had included 72 males and 62 females, with a gender ratio of 1.7 : 1 and a median age of 51 years (9 ~ 86 years old). One hundred twenty patients (76.1%) had harbored at least one genetic variant, including 26 (19.4%) having a single variant, 27 (20.1%) having two variants, and 49 (36.6%) having >= 3 variants. 32 (23.9%) had no detectable variants. Genetic variants detected in over 10% of the 134 patients had included NPM1 (n = 24, 17.91%), FLT3-ITD (n = 21, 15.67%), DNMT3A (n = 20, 14.93%), CEBPA (single variant; n = 14, 10.45%), TET2 (n = 14, 10.45%), and NRAS (n = 14, 10.45%). The patients were also divided into low risk, intermediate risk and high risk groups based on their chromosomal karyotypes. The mutational rates for genes in different groups have varied, with 19 patients from the low risk group harboring variants of NRAS (n = 4, 21.05%), KRAS (n = 4, 21.05%), and KIT (n = 2, 10.53%); and 96 patients from the intermediate risk group harboring variants of NPM1 (n = 24, 25.00%), FLT3-ITD (n = 20, 20.83%), DNMT3A (n = 18, 18.75%), CEBPA (n = 12, 12.50%), and TET2 genes (n = 12, 12.50%). The mutational frequencies for the 19 patients from the high risk group were ASXL1 (n = 7, 21.05%), NRAS (n = 3, 15.97%), TP53 (n = 3, 15.79%), and EZH2 (n = 2, 10.53%). A significant difference was found in the frequencies of KIT, NPM1, FLT3-ITD, DNMT3A, and ASXL1 gene variants among the low-risk, medium-risk, and high-risk groups.@*CONCLUSION@#AML patients have a high frequency for genetic variants, with 76.1% harboring at least one variant. The frequency of genetic variants have varied among patients with different chromosomal karyotypes, and there are apparent dominant variants. KIT, NPM1, FLT3-ITD, DNMT3A, and ASXL1 may be used as prognostic factors for evaluating their prognosis.