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1.
Eur Rev Med Pharmacol Sci ; 28(10): 3607-3614, 2024 May.
Article En | MEDLINE | ID: mdl-38856136

OBJECTIVE: The impact of particulate matter (PM) on the risk of type 2 diabetes (T2D) remains inconclusive. The purpose of this study was to assess the causal relationship between PM and T2D using Mendelian randomization (MR) analysis. MATERIALS AND METHODS: Single nucleotide polymorphisms (SNPs) for PM2.5, PM10, and T2D were obtained from the UK Biobank and FinnGen datasets. Inverse variance weighted, MR-Egger, and weighted median were utilized to examine the causal relationship between exposure and outcome. MR-Egger intercept analysis, Cochran's Q test, and leave-one-out sensitivity analysis were used to assess horizontal pleiotropy, heterogeneity, and robustness of the results, respectively. RESULTS: The MR analysis revealed a significant association between PM2.5 and increased risk of T2D (OR: 1.159, 95% CI: 1.003 to 1.339, p = 0.045), while no significant association was found between PM10 and T2D risk (OR: 1.031, 95% CI: 0.788 to 1.350, p = 0.822). MR-Egger intercept analysis and Cochran's Q test indicated no evidence of horizontal pleiotropy or heterogeneity in these results. Sensitivity analysis demonstrated the robustness of the results. CONCLUSIONS: This MR analysis suggests that PM2.5, rather than PM10, is associated with an increased risk of T2D. The use of air purifiers and anti-smog masks may potentially help reduce the risk of T2D. Further research is needed to elucidate the specific effects and underlying mechanisms of PM2.5 and PM10 on T2D.


Diabetes Mellitus, Type 2 , Mendelian Randomization Analysis , Particulate Matter , Polymorphism, Single Nucleotide , Diabetes Mellitus, Type 2/genetics , Diabetes Mellitus, Type 2/epidemiology , Humans , Particulate Matter/adverse effects , Risk Factors
2.
Nan Fang Yi Ke Da Xue Xue Bao ; 44(5): 810-817, 2024 May 20.
Article Zh | MEDLINE | ID: mdl-38862438

OBJECTIVE: To explore the neuroprotective effect of coenzyme Q10 and its possible mechanism in mice with chronic restraint stress (CRS). METHODS: Mouse models of CRS were treated with intraperitoneal injections of coenzyme Q10 at low, moderate and high doses (50, 100 and 200 mg/kg, respectively, n=8), VX765 (a caspase-1 specific inhibitor, 50 mg/kg, n=8), or fluoxetine (10 mg/kg, n=8) on a daily basis for 4 weeks, and the changes in depression-like behaviors of the mice were assessed by sugar water preference test, forced swimming test and tail suspension test. The expression of glial fibrillary acidic protein (GFAP) in the hippocampus of the mice was detected using immunohistochemistry, and the number of synaptic spines was determined with Golgi staining. Western blotting was performed to detect the changes in the expressions of GFAP and pyroptosis-related proteins in the hippocampus, and the colocalization of neurons and caspase-1 p10 was examined with immunofluorescence assay. RESULTS: Compared with the normal control mice, the mouse models of CRS showed significantly reduced sugar water preference and increased immobility time in forced swimming and tail suspension tests (P < 0.05), and these depression-like behaviors were obviously improved by treatment with coenzyme Q10, VX765 or FLX. The mouse models showed a significantly decreased positive rate of GFAP and lowered GFAP protein expression in the hippocampus with obviously decreased synaptic spines, enhanced expressions of GSDMD-N, caspase-1 and IL-1ß, and increased colocalization of neurons and caspase-1 p10 (all P < 0.05). All these changes were significantly ameliorated in the mouse models after treatment with Q10. CONCLUSION: Coenzyme Q10 can alleviate depression-like behaviors in mice with CRS by down-regulating the pyroptosis signaling pathway.


Depression , Disease Models, Animal , Hippocampus , Pyroptosis , Restraint, Physical , Signal Transduction , Stress, Psychological , Ubiquinone , Animals , Mice , Pyroptosis/drug effects , Depression/drug therapy , Depression/etiology , Depression/metabolism , Ubiquinone/analogs & derivatives , Ubiquinone/pharmacology , Ubiquinone/therapeutic use , Hippocampus/metabolism , Hippocampus/drug effects , Signal Transduction/drug effects , Stress, Psychological/drug therapy , Down-Regulation/drug effects , Caspase 1/metabolism , Glial Fibrillary Acidic Protein/metabolism , Behavior, Animal/drug effects , Male , Neuroprotective Agents/pharmacology , Neuroprotective Agents/therapeutic use
3.
Zhonghua Gan Zang Bing Za Zhi ; 32(5): 402-405, 2024 May 20.
Article Zh | MEDLINE | ID: mdl-38858189

Hepatitis B is a major infectious disease that seriously endangers the health of the people of China. Patients with hepatitis B have a large base in our country, and the core indicators such as detection and antiviral treatment ratio are far from the real goal of eliminating the public health threat of uiral hepatitis.Notably, the chronic hepatitis B prevention and control system lacks a wide targeted strategies. This paper systematically analyzes our country's main successful experience with AIDS prevention and control and, on that basis, proposes the ideas and strategic paths for the construction of a chronic hepatitis B prevention and control system, analyzes and discusses the current difficulties and problems in prevention and control, and looks forward to future prevention and control efforts.


Acquired Immunodeficiency Syndrome , Hepatitis B, Chronic , Humans , China/epidemiology , Hepatitis B, Chronic/prevention & control , Acquired Immunodeficiency Syndrome/prevention & control
4.
Res Pract Thromb Haemost ; 8(4): 102432, 2024 May.
Article En | MEDLINE | ID: mdl-38854821

Here, we present a series of illustrated capsules from the State of the Art (SOA) speakers at the 2024 International Society on Thrombosis and Haemostasis Congress in Bangkok, Thailand. This year's Congress marks the first time that the International Society on Thrombosis and Haemostasis has held its flagship scientific meeting in Southeast Asia and is the first to be organized by an international Planning Committee. The Bangkok program will feature innovative science and clinical updates from around the world, reflecting the diversity and multidisciplinary growth of our field. In these illustrated SOA capsules, you will find an exploration of novel models of thrombosis and bleeding and biomaterial discoveries that can trigger or block coagulation. Thromboinflammation is now understood to drive many disease states, and the SOA speakers cover cellular and coagulation responses to COVID-19 and other infections. The theme of crosstalk between coagulation and inflammation expands with capsules on protein S signaling, complement, and fibrinolytic inhibitors. Novel agents for hemophilia and thrombosis prevention are introduced. Challenging clinical conditions are also covered, such as inherited platelet disorders and antiphospholipid antibody syndrome. The scientific program in Bangkok will also showcase the work of clinicians and scientists from all parts of the world and chronicle real-world challenges. For example, 2 SOA capsules address the diagnosis and management of von Willebrand disease in low-income settings. Take some time to browse through these short illustrated reviews; we're sure that you'll be entertained, educated, and inspired to further explore the world of thrombosis and hemostasis.

5.
Animal ; 18(7): 101196, 2024 May 23.
Article En | MEDLINE | ID: mdl-38917726

In the realm of animal phenotyping, manual measurements are frequently utilised. While machine-generated data show potential for enhancing high-throughput breeding, additional research and validation are imperative before incorporating them into genetic evaluation processes. This research presents a method for managing meat sheep and collecting data, utilising the Sheep Data Recorder system for data input and the Sheep Body Size Collector system for image capture. The study aimed to investigate the genetic parameter changes of growth traits in Ujumqin sheep by comparing machine-generated measurements with manual measurements. The dataset consisted of 552 data points from the offspring of 75 breeding rams and 399 breeding ewes. Six distinct random regression models were assessed to pinpoint the most suitable model for estimating genetic parameters linked to growth traits. These models were distinguished based on the inclusion or exclusion of maternal genetic effects, maternal permanent environmental effects, and covariance between maternal and direct genetic effects. Fixed factors such as individual age, individual sex, and ewe age were taken into account in the analysis. The genetic parameters for the yearling growth traits of Ujumqin sheep were calculated using ASReml software. The Akaike information criterion, the Bayesian information criterion, and fivefold cross-validation were employed to identify the optimal model. Research findings indicate that the most accurate models for manually measured data revealed heritability estimates of 0.12 ± 0.15 for BW, 0.05 ± 0.07 for body slanting length, 0.03 ± 0.07 for withers height, 0.15 ± 0.12 for hip height, 0.11 ± 0.11 for chest depth, 0.13 ± 0.13 for shoulder width, and 0.53 ± 0.15 for chest circumference. The optimal models for machine-predicted data showed heritability estimates of 0.1 ± 0.09 for body slanting length, 0.14 ± 0.12 for withers height, 0.55 ± 0.15 for hip height, 0.34 ± 0.15 for chest depth, 0.26 ± 0.15 for shoulder width, and 0.47 ± 0.16 for chest circumference. In manually measured data, genetic correlations ranged from 0.35 to 0.99, while phenotypic correlations ranged from 0.07 to 0.90. In machine data, genetic correlations ranged from -0.05 to 0.99, while phenotypic correlations ranged from 0.03 to 0.84. The results suggest that machine-based estimations may lead to an overestimation of heritability, but this discrepancy does not impact the selection of breeding models.

6.
Poult Sci ; 103(8): 103849, 2024 May 11.
Article En | MEDLINE | ID: mdl-38838588

A 28-d experiment was conducted to investigate the effects of feed-conditioning temperature on the pellet quality, growth performance, intestinal development, and blood parameters of geese. A total of 180 one-day-old White Yuzhou goslings were randomly allotted to 5 treatment groups, with 6 replicates containing 6 birds each. Five diets were conditioned at 65, 70, 75, 80, and 85°C. Body weight and feed intake per pen basis were recorded from the arrival to the end of the trial. Blood and small intestine samples were collected on d 28 for analysis. The results showed that the pellet durability index (PDI), pellet hardness, and gelatinisation degree of starch (GDS) increased with increasing conditioning temperature (P < 0.05). The final body weight (FBW), average daily gain (ADG) and average daily feed intake (ADFI) of goslings significantly increased when conditioning temperature increased from 65 or 70°C to 80 or 85°C (P < 0.05), accompanied by unaffected feed conversion ratio (FCR) (P > 0.05). The villus height to crypt depth ratio (VH/CD) in the duodenum and ileum improved with increasing conditioning temperature (P < 0.05). Additionally, trypsin and amylase activity were enhanced when the conditioning temperature increased from 65 to 85°C (P < 0.05). No significant differences in the carcass traits and blood parameters of goslings were observed among the groups (P > 0.05). Overall, under the present experimental conditions, increasing the steam-conditioning temperature of pelleted feed improved pellet quality, growth performance, intestinal morphology, and digestive enzyme activity in goslings. Based on broken-line regression analysis, the lower critical conditioning temperature for ADG in geese from 1 to 28 d of age was 80.95°C.

7.
Zhonghua Nei Ke Za Zhi ; 63(5): 439-461, 2024 May 01.
Article Zh | MEDLINE | ID: mdl-38715481

The evolution of critical care medicine is inextricably linked to the development of critical care procedures. These procedures not only facilitate diagnosis and treatment of critically ill patients, but also provide valuable insights into disease pathophysiology. While critical care interventions offer undeniable benefits, the potential for iatrogenic complications necessitates careful consideration. The recent surge in critical care ultrasound (US) utilization is a testament to its unique advantages: non-invasiveness, real-time bedside availability, direct visualization of internal structures, elimination of ionizing radiation exposure, repeatability, and relative ease of learning. Recognizing the need to optimize procedures and minimize complications, critical care utrasound study group of Beijing critical care ultrasound research assocition convened a panel of critical care experts to generate this consensus statement. This document serves as a guide for healthcare providers, aiming to ensure patient safety and best practices in critical care.


Critical Care , Ultrasonography , Humans , Critical Care/methods , Ultrasonography/methods , Consensus
8.
Zhonghua Nei Ke Za Zhi ; 63(5): 521-524, 2024 May 01.
Article Zh | MEDLINE | ID: mdl-38715494

A 48-year-old male was admitted to Peking Union Medical College Hospital presented with intermittent fever for two years. The maximum body temperature was 39 ℃, and could spontaneously relieve. The efficacy of antibacterial treatment was poor. He had no other symptoms and positive signs. He had a significant weight loss, and the serum lactate dehydrogenase increased significantly. It was highly alert to be lymphoma, but bone marrow smear and pathology, and PET-CT had not shown obvious abnormalities. Considering high inflammatory indicators, increased ferritin and large spleen, the patient had high inflammatory status, and was treated with methylprednisolone. Then the patient's body temperature was normal, but the platelet decreased to 33×109/L. During hospitalization, he had suddenly hemoperitoneum and hemorrhagic shock. He was found spontaneous spleen rupture without obvious triggers, and underwent emergency splenectomy. The pathological diagnosis of spleen was diffuse large B-cell lymphoma.


Fever of Unknown Origin , Hemoperitoneum , Positron Emission Tomography Computed Tomography , Humans , Male , Middle Aged , Fever of Unknown Origin/etiology , Fever of Unknown Origin/diagnosis , Positron Emission Tomography Computed Tomography/methods , Hemoperitoneum/etiology , Hemoperitoneum/diagnosis , Lymphoma, Large B-Cell, Diffuse/diagnosis , Splenectomy , Spleen/diagnostic imaging , Splenic Rupture/diagnosis , Splenic Rupture/etiology
9.
Zhonghua Xue Ye Xue Za Zhi ; 45(3): 215-224, 2024 Mar 14.
Article Zh | MEDLINE | ID: mdl-38716592

Objective: To retrospectively analyze the treatment status of tyrosine kinase inhibitors (TKI) in newly diagnosed patients with chronic myeloid leukemia (CML) in China. Methods: Data of chronic phase (CP) and accelerated phase (AP) CML patients diagnosed from January 2006 to December 2022 from 77 centers, ≥18 years old, and receiving initial imatinib, nilotinib, dasatinib or flumatinib-therapy within 6 months after diagnosis in China with complete data were retrospectively interrogated. The choice of initial TKI, current TKI medications, treatment switch and reasons, treatment responses and outcomes as well as the variables associated with them were analyzed. Results: 6 893 patients in CP (n=6 453, 93.6%) or AP (n=440, 6.4%) receiving initial imatinib (n=4 906, 71.2%), nilotinib (n=1 157, 16.8%), dasatinib (n=298, 4.3%) or flumatinib (n=532, 7.2%) -therapy. With the median follow-up of 43 (IQR 22-75) months, 1 581 (22.9%) patients switched TKI due to resistance (n=1 055, 15.3%), intolerance (n=248, 3.6%), pursuit of better efficacy (n=168, 2.4%), economic or other reasons (n=110, 1.6%). The frequency of switching TKI in AP patients was significantly-higher than that in CP patients (44.1% vs 21.5%, P<0.001), and more AP patients switched TKI due to resistance than CP patients (75.3% vs 66.1%, P=0.011). Multi-variable analyses showed that male, lower HGB concentration and ELTS intermediate/high-risk cohort were associated with lower cytogenetic and molecular responses rate and poor outcomes in CP patients; higher WBC count and initial the second-generation TKI treatment, the higher response rates; Ph(+) ACA at diagnosis, poor PFS. However, Sokal intermediate/high-risk cohort was only significantly-associated with lower CCyR and MMR rates and the poor PFS. Lower HGB concentration and larger spleen size were significantly-associated with the lower cytogenetic and molecular response rates in AP patients; initial the second-generation TKI treatment, the higher treatment response rates; lower PLT count, higher blasts and Ph(+) ACA, poorer TFS; Ph(+) ACA, poorer OS. Conclusion: At present, the vast majority of newly-diagnosed CML-CP or AP patients could benefit from TKI treatment in the long term with the good treatment responses and survival outcomes.


Dasatinib , Imatinib Mesylate , Leukemia, Myelogenous, Chronic, BCR-ABL Positive , Protein Kinase Inhibitors , Humans , Retrospective Studies , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug therapy , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis , Protein Kinase Inhibitors/therapeutic use , Imatinib Mesylate/therapeutic use , Dasatinib/therapeutic use , China , Treatment Outcome , Male , Female , Pyrimidines/therapeutic use , Adult , Middle Aged
10.
Nan Fang Yi Ke Da Xue Xue Bao ; 44(4): 720-726, 2024 Apr 20.
Article Zh | MEDLINE | ID: mdl-38708506

OBJECTIVE: To explore the therapeutic effect of transdermal patches containing Cassia seed extract applied at the navel on slow transit constipation (STC) in rats and explore the spectrum-effect relationship of the patches. METHOD: In a STC rat model established by gavage of compound diphenoxylate suspension for 14 days, the transdermal patches containing low, medium and high doses of Cassia seed extract (41.75, 125.25, and 375.75 mg/kg, respectively) were applied at the Shenque acupoint on the abdomen for 14 days after modeling, with constipation patches (13.33 mg/kg) as the positive control. After the treatment, fecal water content and intestinal propulsion rate of the rats were calculated, the pathological changes in the colon were observed with HE staining. Serum NO and NOS levels and the total protein content and NO, NOS and AChE expressions in the colon tissue were determined. HPLC fingerprints of the transdermal patches were established, and the spectrum-effect relationship between the common peaks of the patches and its therapeutic effect were analyzed. RESULTS: Treatment with the transdermal patches containing Cassia seed extract significantly increased fecal water content and intestinal propulsion rate of the rat models, where no pathological changes in the colon tissue were detected. The treatment also suppressed the elevations of serum and colonic NO and NOS levels and reduction of AChE in STC rats. Twenty-eight common peaks were confirmed in the HPLC fingerprints of 6 batches of Cassia seed extract-containing patches. Analysis of the spectrum-effect relationship showed that autrantio-obtusin had the greatest contribution to the therapeutic effect of the patches in STC rats. CONCLUSION: The Cassia seed extract-containing patches alleviates STC in rats via synergistic actions of multiple active ingredients in the extract, where autrantio-obtusin, rhein, chrysoobtusin, obtusin, obtusifolin, emodin, chrysophanol, and physcion are identified as the main active ingredients.


Cassia , Constipation , Plant Extracts , Seeds , Transdermal Patch , Animals , Rats , Cassia/chemistry , Constipation/drug therapy , Seeds/chemistry , Rats, Sprague-Dawley , Colon/drug effects , Acupuncture Points , Nitric Oxide/metabolism , Disease Models, Animal , Male , Drugs, Chinese Herbal/therapeutic use
12.
Zhonghua Er Ke Za Zhi ; 62(6): 548-552, 2024 Jun 02.
Article Zh | MEDLINE | ID: mdl-38763877

Objective: To explore the optimization of the standardized assessment tool for clinical diagnosis of Chinese developmental dyslexia (DD). Methods: A cross-sectional study was conducted from May to December 2023, in which 130 primary school children in grades 1 to 3 with clinical signs of literacy lag and positive screening results on the screening scales were recruited from the outpatient clinic of Child Health Care Medical Division, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine. Chinese dyslexia screening behavior checklist for primary students (CDSBC) was used as the screening scales, and supplemented by dyslexia checklist for Chinese children. Referring to the standard procedure of the"expert advice on diagnosis and intervention of Chinese developmental dyslexia", the developmental dyslexia scale for standard mandarin (DDSSM) was used to evaluate the children's literacy-related cognitive abilities and conduct the diagnostic assessment, and divided the children into learning backward group and the DD group. The t-test and χ2 test were used to compare the differences in the distribution of intelligence, literacy and attention deficit hyperactivity disorder between the two groups. Spearman's correlation was used to analyze the correlation between the scores for each cognitive ability in the DDSSM and the CDSBC. Results: Of the 130 children, 90 were male, aged (8.3±1.0) years; 40 were female, aged (8.1±0.9) years. A final diagnosis of DD was made in 59 cases, of which 41 were males. There was no statistically significant difference in operational intelligence quotient (101±15 vs.100±15, t=0.53, P>0.05) and statistically significant difference in literacy of DDSSM (32±5 vs.21±4, t=11.56, P<0.001) between the learning backward group and the DD group. Eighteen cases (25.4%) of the learning backward group were children with attention deficit subtype attention deficit hyperactivity disorder (ADHD-I), and 16 cases (27.1%) in DD group, the difference in incidence between the two groups was not statistically significant (χ2=0.05, P>0.05). There were correlations between the DDSSM (for oral vocabulary, morphological awareness and orthographic awareness) and the CDSBC total score (r=-0.42, -0.32, -0.35, all P<0.01), but the correlations for visuospatial perception and rapid automatized naming with CDSBC total score were not statistically significant (r=-0.09 and -0.20,both P>0.05). Conclusion: For literacy-related cognitive abilities, screening scales CDSBC are not sufficiently useful for assessment, so the introduction of standardized assessment tools DDSSM is an optimization of the clinical diagnosis of Chinese DD, which is crucial for achieving accurate diagnosis and intervention.


Attention Deficit Disorder with Hyperactivity , Dyslexia , Reading , Child , Female , Humans , Male , Attention Deficit Disorder with Hyperactivity/diagnosis , China , Cognition , Cross-Sectional Studies , Dyslexia/diagnosis , East Asian People , Intelligence , Literacy , Mass Screening/methods , Students
13.
J Dent Res ; 103(7): 734-744, 2024 Jul.
Article En | MEDLINE | ID: mdl-38752256

N6-methyladenosine (m6A) modification, a eukaryotic messenger RNA modification catalyzed by methyltransferase-like 3 (METTL3), plays a pivotal role in stem cell fate determination. Calvarial bone development and maintenance are orchestrated by the cranial sutures. Cathepsin K (CTSK)-positive calvarial stem cells (CSCs) contribute to mice calvarial ossification. However, the role of m6A modification in regulating Ctsk+ lineage cells during calvarial development remains elusive. Here, we showed that METTL3 was colocalized with cranial nonosteoclastic Ctsk+ lineage cells, which were also associated with GLI1 expression. During neonatal development, depletion of Mettl3 in the Ctsk+ lineage cells delayed suture formation and decreased mineralization. During adulthood maintenance, loss of Mettl3 in the Ctsk+ lineage cells impaired calvarial bone formation, which was featured by the increased bone porosity, enhanced bone marrow cavity, and decreased number of osteocytes with the less-developed cellular outline. The analysis of methylated RNA immunoprecipitation sequencing and RNA sequencing data indicated that loss of METTL3 reduced Hedgehog (Hh) signaling pathway. Restoration of Hh signaling pathway by crossing Sufufl/+ alleles or by local administration of SAG21 partially rescued the abnormity. Our data indicate that METTL3 modulates Ctsk+ lineage cells supporting calvarial bone formation by regulating the Hh signaling pathway, providing new insights for clinical treatment of skull vault osseous diseases.


Cathepsin K , Hedgehog Proteins , Methyltransferases , Osteogenesis , Signal Transduction , Skull , Animals , Methyltransferases/metabolism , Methyltransferases/genetics , Osteogenesis/physiology , Osteogenesis/genetics , Mice , Hedgehog Proteins/metabolism , Cell Lineage , Cranial Sutures , Stem Cells , Zinc Finger Protein GLI1/metabolism , Zinc Finger Protein GLI1/genetics
14.
Zhonghua Fu Chan Ke Za Zhi ; 59(5): 346-352, 2024 May 25.
Article Zh | MEDLINE | ID: mdl-38797563

Objective: To analyze the incidence and clinical phenotype of the concomitant extragenital malformations in the patients with female reproductive tract anomalies. Methods: A retrospective study was conducted using clinical data of hospitalized patients diagnosed with uterine, cervical, or vaginal malformations from January 2003 to December 2022 in Peking Union Medical College Hospital. The malformations were classified according to American Society for Reproductive Medicine müllerian anomalies classification 2021, and in each type, the incidence and specific manifestations of concomitant extragnital malformations were analyzed. Results: A total of 444 patients were included. The overall incidence of concomitant extragenital malformations was 43.5% (193/444), including urinary system, skeletal system, and other system malformations. Renal malformations on the obstructed side were present in all patients with oblique vaginal septum syndrome (100.0%, 78/78). The total incidence of concomitant extragnital malformations was as high as 8/11 in uterus didelphys, 43.5% (10/23) in unicornuate uterus, 33.6% (79/235) in Mayer-Rokitansky-Küster-Hauser syndrome, 18.8% (6/32) in septate uterus and 18.5% (12/65) in cervical agenesis. Urinary system malformations (30.6%, 136/444) and skeletal system malformations (13.5%, 60/444) were the most common concomitant malformations in all types, in which, unilateral renal agenesis and scoliosis were the most common. Conclusions: Urinary and skeletal system malformations are important features of female reproductive tract anomalies. Urologic ultrasonography and spinal roentgenogram are recommended for all patients with female reproductive tract anomalies.


Abnormalities, Multiple , Mullerian Ducts , Urogenital Abnormalities , Uterus , Vagina , Humans , Female , Retrospective Studies , Urogenital Abnormalities/epidemiology , Uterus/abnormalities , Vagina/abnormalities , Mullerian Ducts/abnormalities , Incidence , Abnormalities, Multiple/epidemiology , 46, XX Disorders of Sex Development/epidemiology , Kidney/abnormalities , Cervix Uteri/abnormalities , Cervix Uteri/pathology , Genitalia, Female/abnormalities , China/epidemiology , Congenital Abnormalities/epidemiology , Adult
15.
Zhonghua Yi Xue Za Zhi ; 104(18): 1578-1583, 2024 May 14.
Article Zh | MEDLINE | ID: mdl-38742344

The 5th edition WHO classification of thyroid tumors proposed high-grade non-anaplastic thyroid carcinoma, which includes traditional poorly differentiated thyroid carcinoma (PDTC) and differentiated high-grade thyroid carcinoma (DHGTC), with a prognosis between highly differentiated thyroid carcinoma and anaplastic thyroid carcinoma (ATC), in which about 50% of patients do not take radioactive iodine. Therefore, this classification is of great clinical significance. This article interprets the diagnostic criteria and genetic features of high-grade non-anaplastic thyroid carcinoma in 5th edition WHO classification, comparing with ATC.


Thyroid Neoplasms , World Health Organization , Humans , Thyroid Neoplasms/diagnosis , Thyroid Neoplasms/classification , Thyroid Neoplasms/pathology , Adenocarcinoma, Follicular/diagnosis , Adenocarcinoma, Follicular/classification , Adenocarcinoma, Follicular/pathology , Thyroid Carcinoma, Anaplastic/diagnosis , Thyroid Carcinoma, Anaplastic/pathology , Thyroid Carcinoma, Anaplastic/classification , Prognosis
16.
Zhonghua Yi Xue Za Zhi ; 104(18): 1623-1627, 2024 May 14.
Article Zh | MEDLINE | ID: mdl-38742350

A total of 37 cases of thyroid tumors with pathological features suggestive of DICER1 gene mutation were selected to detect the DICER1 gene and BRAF gene using Sanger sequencing. A total of 10 patients (27.0%) exhibited DICER1 gene mutation all of whom were female with an age of [M(Q1, Q3)] 38.0 (30.5, 47.5) years. All patients had wild-type BRAFV600E gene. The ultrasound examination showed high-low echogenic well-demarcated intra-thyroidal nodules with abundant peripheral and internal blood flow signals in the DICER1 mutated thyroid tumor. The tumor was confined within the thyroid gland, with a diameter of (3.68±1.31) cm. The pathological features are as follows: the majority of tumors are encapsulated, which mainly composed of large follicles rich in colloid and some are small and micro follicles. The nucleus is round and deeply stained or slightly light stained, small to medium-sized, with occasional nuclear grooves and a lack of nuclear pseudoinclusion bodies within the nucleus. Immunohistochemical staining shows that Ki67 proliferation index of approximately 2%-10%. All cases were followed up for 11 to 18 months, and there was no recurrences or distant metastase. This study confirmed that the DICER1 gene mutation is mutually exclusive with the BRAFV600E gene mutation. The thyroid tumor with DICER1 mutation are in big size and are more common in young females with a good prognosis. Cases with the wild-type DICER1 gene may exhibit similar morphological features, and molecular testing is recommended. If somatic DICER1 mutation is confirmed, patients should undergo germline mutation testing to rule out DICER1 syndrome in order to define whether genetic counseling is necessary.


DEAD-box RNA Helicases , Mutation , Ribonuclease III , Thyroid Neoplasms , Humans , Ribonuclease III/genetics , DEAD-box RNA Helicases/genetics , Thyroid Neoplasms/genetics , Thyroid Neoplasms/pathology , Adult , Middle Aged , Female , Proto-Oncogene Proteins B-raf/genetics , Male
17.
Zhonghua Yi Xue Za Zhi ; 104(13): 1028-1035, 2024 Apr 02.
Article Zh | MEDLINE | ID: mdl-38561297

Objective: To investigate the impact of lumbar paraspinal muscle degeneration and postoperative failure to restore ideal Roussouly classification on the occurrence of mechanical complications (MC) following long-segment spinal correction surgery in female patients with degenerative scoliosis (DS). Methods: The clinical data of 72 female DS patients who underwent long-segment spinal correction surgery in Gulou Hospital from June 2017 to November 2021 were retrospectively analyzed. According to whether restoring the ideal Roussouly classification after surgery, the patients were divided into R group(recovery group) (n=51) and N group(non-recovery group) (n=21). According to whether mechanical complications occurred after operation within two years, the patients were divided into MC (mechanical complications)group (n=24) and NMC(non-mechanical complications) group (n=48). The RM group (n=14) experienced mechanical complications in the R group, while the RN group (n=37) did not. The NM group (n=10) experienced mechanical complications in the N group, while the NN group (n=11) did not.Radiographic assessment included Sagittal parameters of spine and pelvis, standardized cross-sectional area (SCSA) and fat infiltration rate (FI%) of paraspinal muscle at each lumbar disc level. Results: The age of DS patients in this study was (61.4±6.2) years.The incidence of MC was 33.33%(n=24)in all patients. The incidence of MC was 27.45%(n=14)in group R and 47.62%(n=10) in group N. The correction amount of pelvic tilt angle (PT) (-11.62°±10.06° vs -7.04°±8.45°, P=0.046) and T1 pelvic angle(TPA)(-12.88°±11.23° vs -7.31°±9.55°, P=0.031)during surgery were significantly higher in MC group compared to the NMC group. In group R, the FI% of paraspinal muscles in each lumbar segment of patients with postoperative MC was higher than that in patients without MC (P<0.05). In the R and N groups, there was no significant difference inthe SCSA of the lumbar paravertebral muscles between patients with postoperative MC and those without MC at each level (all P>0.05). Multivariate logistic regression analysis showed that the average FI% of lumbar PSM was correlated with the occurrence of MC after spinal fusion in DS patients.The average FI% of lumbar PSM≥22.63% was a risk factors for MC after spinal fusion (P=0.010,OR=1.088, 95%CI:1.020-1.160). Conclusions: Female DS patients with higher degree of preoperative paraspinal muscle degeneration have a higher incidence of postoperative mechanical complications. For these patients,.there is still a higher risk of mechanical complications after surgery even if the ideal Roussouly classification is restored after surgery.


Scoliosis , Spinal Fusion , Humans , Female , Middle Aged , Aged , Scoliosis/surgery , Paraspinal Muscles , Lumbar Vertebrae/surgery , Retrospective Studies , Risk Factors , Muscular Atrophy , Postoperative Complications , Spinal Fusion/adverse effects
18.
Zhonghua Yi Xue Za Zhi ; 104(16): 1367-1370, 2024 Apr 23.
Article Zh | MEDLINE | ID: mdl-38644286

Lupus nephritis is the most common complication of systemic lupus erythematosus (SLE) and an important cause of end-stage kidney disease and death in patients with SLE. The pathogenesis of SLE is complex, with no effective treatment and poor long-term prognosis. The development of genomic medicine provides a new way to explore the disease-causing genes and pathogenesis of lupus nephritis. Here, the article introduces how to uncover the pathogenesis of lupus nephritis from the genome level and explore new strategies for diagnosis and treatment on this disease.


Lupus Erythematosus, Systemic , Lupus Nephritis , Lupus Nephritis/genetics , Humans , Lupus Erythematosus, Systemic/genetics , Genomics
19.
Zhonghua Yi Xue Za Zhi ; 104(16): 1347-1350, 2024 Apr 23.
Article Zh | MEDLINE | ID: mdl-38644281

Alport syndrome is one of the most common inherited kidney diseases caused by mutations in the type Ⅳ collagen genes. It has a complex pattern of inheritance and diverse clinical manifestations, and severe cases will rapidly progress to end-stage kidney disease. With the rapid development of genetic testing technology, there is a deeper understanding of the genetic spectrum of Alport syndrome, the effectiveness of clinical therapies, and the prediction of disease prognosis. Therefore, the purpose of the article is to introduce the advances in the diagnosis and treatment of Alport syndrome, aiming to improve the early diagnosis and standardized treatment of this disease.


Collagen Type IV , Mutation , Nephritis, Hereditary , Nephritis, Hereditary/therapy , Nephritis, Hereditary/diagnosis , Nephritis, Hereditary/genetics , Humans , Collagen Type IV/genetics , Genetic Testing , Prognosis , Kidney Failure, Chronic/therapy , Kidney Failure, Chronic/genetics , Kidney Failure, Chronic/diagnosis
20.
Hernia ; 2024 Apr 21.
Article En | MEDLINE | ID: mdl-38643447

PURPOSE: Parastomal hernia poses a challenging problem in the field of hernia surgery. The high incidence and recurrence rates of parastomal hernia necessitate surgeons to enhance surgical techniques and repair materials. This study aimed to develop a rat model of parastomal hernia by inducing various types of defects on the abdominal wall with colostomy. This established method has potential for future studies on parastomal hernia. METHODS: In this study, 32 male rats were included and randomly divided into four groups: the oblique abdominis excision (OE), oblique abdominis dissection (OD), rectus abdominis excision (RE), and rectus abdominis dissection (RD) groups. In each group, colostomy was performed and an abdominal wall defect was induced. The rats were observed for 28 days following surgery. The survival rate, body weight, parastomal hernia model scores, abdominal wall adhesion and inflammation, and collagen level in the hernial sac were compared. RESULTS: No significant differences in survival rate and weight were observed among the four groups. The parastomal hernia model scores in the RE and RD groups were significantly higher than those in the OE and OD groups. The ratio of collagen I/III in the RE and RD groups was significantly lower than that in the OE and OD groups. Adhesion and inflammation levels were lower in the RE group than in the RD group. CONCLUSION: Based on a comprehensive comparison of the findings, RE with colostomy emerged as the optimal approach for establishing parastomal hernia models in rats.

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