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1.
Poult Sci ; 103(8): 103849, 2024 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-38838588

RESUMO

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.

2.
Artigo em Chinês | MEDLINE | ID: mdl-38811176

RESUMO

Objective: To compare the differences between the variation interpretation standards and guidelines issued by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) in 2015 (The 2015ACMG/AMP guideline) and the Deafness Specialist Group of the Clinical Genome Resource (ClinGen) in 2018 for hereditary hearing loss (Healing loss, HL) issued the expert specification of the variation interpretation guide (The 2018 HL-EP guideline) in evaluating the pathogenicity of OTOF gene variation in patients with auditory neuropathy. Methods: Thirty-eight auditory neuropathy patients with OTOF gene variant were selected as the study subjects (23 males and 15 females, aged 0.3-25.9 years). Using whole-genome sequencing, whole exome sequencing or target region sequencing (Panel) combined with Sanger sequencing, 38 cases were found to carry more than two OTOF mutation sites. A total of 59 candidate variants were independently interpreted based on the 2015 ACMG/AMP guideline and 2018 HL-EP guideline. Compared with the judgment results in 2015 ACMG/AMP guideline, the variants interpreted as lower pathogenic classifications in the 2018 HL-EP guideline were defined as downgraded variants, and the variants regarded as higher pathogenic classifications were defined as upgraded variants. Statistical analysis was conducted using SPSS 20.0. Results: The concordance rate of variant classification between the guidelines was 72.9%(43/59). The 13.6%(8/59) of variants were upgraded and 13.6% (8/59) of variants downgraded in the classifications of the 2018 HL-EP guideline. A couple of rules saw significant differences between the guidelines (PVS1, PM3, PP2, PP3 and PP5). The distribution of pathogenicity of splicing mutation was statistically different (P=0.013). Conclusions: The 2018 HL-EP guideline is inconsistent with the 2015 ACMG/AMP guideline, when judging the pathogenicity of OTOF gene variants in patients with auditory neuropathy. Through the deletion and refinement of evidence and the breaking of solidification thinking, the 2018 HL-EP guideline makes the pathogenicity grading more traceable and improves the credibility.


Assuntos
Perda Auditiva Central , Proteínas de Membrana , Mutação , Humanos , Feminino , Masculino , Perda Auditiva Central/genética , Criança , Adulto , Adolescente , Pré-Escolar , Lactente , Proteínas de Membrana/genética , Adulto Jovem , Variação Genética , Sequenciamento do Exoma , Testes Genéticos/métodos , Sequenciamento Completo do Genoma/métodos , Genômica/métodos
3.
Artigo em Chinês | MEDLINE | ID: mdl-38802310

RESUMO

Objective: To select chest CT image patterns for the diagnosis of pneumoconiosis and establish a method for determining the profusion of circular small shadows in chest CT. Methods: In April 2021, 66 cases of occupational pneumoconiosis patients with digital radiography (DR) chest radiographs and chest CT imaging data with circular small shadow as the main manifestations were selected as the study objects. 1.5 mm and 5 mm chest CT axial images, 1 mm and 5 mm chest CT coronal multi-plane recombination (MPR) images, and 5 mm chest CT coronal maximum intensity projection (MIP) images were used to observe the different characteristics of pneumoconiosis patients, and were compared and analyzed with DR chest radiographs to establish the experimental chest CT standards. The consistency of the profusion results between the experimental chest CT standards and GBZ 70-2015 Diagnosis of Occupational Pneumoconiosis was verified. Results: All the 66 objects were male, including 33 cases of stage Ⅰ pneumoconiosis, 17 cases of stage Ⅱ pneumoconiosis and 16 cases of stage Ⅲ pneumoconiosis. By observing five chest CT images of 66 objects, we found that chest CT images of different modes could clearly display and identify abnormal images such as small circular shadow, large shadow, small shadow aggregation, honeycomb glass shadow, flake glass shadow, uniform low-profusion glass shadow, mesh glass shadow, cable shadow, linear shadow, subpleural spinous shadow, subpleural nodules, various kinds of emphysema and lung texture distortion and fracture. Small shadow aggregation was usually accompanied by the appearance of large shadow. The vascular shadows in 5 mm CT images had good ductility, and small nodules were easy to distinguish. The coronal MIP image of 5 mm chest CT used edge enhancement technology, which was prone to small shadow fusion and fibrotic shadow fusion. The coronal MPR image of 5 mm chest CT was highly consistent with the DR chest radiographs in terms of the integrity of film reading. GBZ 70-2015 standard was used to compare the profusion of DR chest radiographs and 5 mm chest CT coronal MPR images of 66 objects, and the consistency test Kappa=0.64. GBZ 70-2015 standard and experimental chest CT standard were used to compare the profusion results of DR chest radiographs and 5 mm chest CT coronal MPR images of 66 objects, respectively, and the consistency test Kappa=0.80, with high consistency. Conclusion: 5 mm coronal MPR image is suitable for chest CT imaging in the diagnosis of pneumoconiosis. Following the selection path and method of GBZ 70-2015 profusion criterion, the established experimental chest CT standard in determining the profusion of small circular shadows in 5 mm coronal MPR images of chest CT with pneumoconiosis has a high consistency with GBZ 70-2015 standard.


Assuntos
Pneumoconiose , Radiografia Torácica , Tomografia Computadorizada por Raios X , Humanos , Pneumoconiose/diagnóstico por imagem , Masculino , Tomografia Computadorizada por Raios X/métodos , Radiografia Torácica/métodos , Pessoa de Meia-Idade , Processamento de Imagem Assistida por Computador/métodos , Pulmão/diagnóstico por imagem , Idoso
4.
Zhonghua Kou Qiang Yi Xue Za Zhi ; 59(6): 604-609, 2024 May 27.
Artigo em Chinês | MEDLINE | ID: mdl-38808421

RESUMO

Objective: To establish patient-derived organoid models of pleomorphic adenomas (PAs) of the parotid gland and preliminarily characterize their histology, related biomarkers and functions. Methods: Fresh tumor tissue specimens were collected from surgical procedures of Oral and Maxillofacial Department. The harvested tissues were processed and cultured in a head and neck tumor organoid culture system, resulting in the successful establishment of organoid models from four cases of parotid gland pleomorphic adenomas. The in vitro growth of PA organoids was recorded by light microscopy. The successfully established organoids were passaged and cryopreserved, and the cryopreserved PA organoids were revived and re-cultured to observe their viability and organoid regeneration ability. Histological characterization, as well as characterization and detection of related markers and functional proteins, were performed on the organoids, comparing them with the patient-derived tissues. Results: The constructed organoid model of pleomorphic adenoma exhibited a dense and compact three-dimensional spherical structure. Hematoxylin and eosin staining indicated morphological similarities between the organoid and its tissue of origin. Immunohistochemistry showed positive cytoplasmic staining for Calponin, CK7, and EMA in both the organoid and the source tumor tissue, suggesting consistent histopathological characteristics between the organoid and its tissue of origin. Periodic acid-Schiff staining of the organoid showed positive staining for glycogen, with positive staining located in the interior and periphery of the organoid, indicating that the organoid possessed secretory functions like the salivary gland. Conclusion: We successfully constructed organoids of pleomorphic adenoma derived from patient samples. This model faithfully replicates the tissue morphology and biomarkers of the source tissue and exhibits biological functions associated with mucus secretion. It serves as a valuable in vitro model for studying the development and progression of salivary gland tumors.

6.
Artigo em Chinês | MEDLINE | ID: mdl-38811172

RESUMO

Objective: The purpose of this study was to investigate the characteristics of distortion product otoacoustic emissions (DPOAE) in patients with auditory neuropathy (AN). The factors affecting DPOAE elicitation rate of each frequency, elicitation rate of each ear and change rate of first and last diagnosis in the natural course were analyzed. Methods: The sample was obtained from the Multicenter Study on Clinical Diagnosis and Intervention of AN (registration number: ChiCTR2100050125), and the diagnostic criteria for AN were based on the Chinese Clinical Practice Guidelines of Auditory Neuropathy (version 2022). Patients with bilateral AN who underwent 2 or more DPOAE tests were screened and divided into infant groups (≤3 years old) and non-infant groups (>3 years old) according to the age of detection, and the trend of DPOAE elicitation rate of each frequency, elicitation rate of each ear and change rate in the natural course of disease were analyzed, in order to explore the relevant influencing factors. Results: A total of 165 patients (330 ears) with AN were included in the study. The overall DPOAE elicitation rate per ear was 77.0%±29.4% at the initial diagnosis and 65.1%±35.2% at the final diagnosis, with a reduction observed in the elicitation rate of 171 ears (51.82%). In the infant group, there were 49 cases (98 ears), including 28 males and 21 females, whose found age ranged from 0 to 3 years old, with a median age of 0.7 years. DPOAE elicitation rate per ear was 57.9%±35.5% in the initial diagnosis, and 32.4%±32.1% in the final diagnosis, with a reduction observed in the elicitation rate of 69 ears (70.41%). In the non-infant group, there were 116 cases (232 ears), including 59 males and 57 females, ranging in found age from 3.9 to 40 years old, with a median age of 14 years old. DPOAE elicitation rate per ear was 84.6%±23.4% in the initial diagnosis, and 78.3%±27.1% in the final diagnosis, with a reduction observed in the elicitation rate of 102 ears (43.97%). Age was found to be correlated with DPOAE changes by multicategorical unordered logistic regression analysis (B=-0.224, OR=0.799, P<0.001). Conclusions: The elicitation rate of DPOAE in AN patients decreases or even disappears with increasing disease duration; The rate of DPOAE extraction is found to be lower in infant patients with auditory neuropathy (AN) compared to non-infant AN patients. Additionally, it is observed that the decrease in DPOAE extraction rate is more pronounced in infant AN patients as the disease progressed, as compared to non-infant AN patients. DPOAE and cochlear microphonic potentials should be fully combined for accurate diagnosis, and regular follow-up should be conducted to understand the natural course of the disease and give personalized guidance and assistance.


Assuntos
Perda Auditiva Central , Emissões Otoacústicas Espontâneas , Humanos , Pré-Escolar , Lactente , Perda Auditiva Central/fisiopatologia , Perda Auditiva Central/diagnóstico , Criança , Feminino , Masculino , Adolescente , Adulto , Adulto Jovem
7.
Artigo em Chinês | MEDLINE | ID: mdl-38811174

RESUMO

Objective: The purpose of this study was to analyze the clinical characteristics of auditory neuropathy (AN) patients with normal hearing or mild hearing loss. Methods: Data from Multicenter Study on Clinical Diagnosis and Intervention of Acoustic Neuropathy (registration number: ChiCTR2100050125). According to the Chinese clinical practice guideline of auditory neuropathy (version 2022), these patients divided into two groups: the normal hearing group (PTA Normal, PTAN group, the average hearing threshold<20 dB HL) and the mild hearing loss group (PTA Mild hearing loss, PTAM group, the average hearing threshold between 20-35 dBHL). The audiology characteristics, clinical features, and follow-up were analyzed. Data analysis was conducted using GraphPad Prism 8 and SPSS 20.0 software. Results: A total of 75 AN with normal hearing or mild hearing loss were included in this study. The PTAN group consisted of 19 patients (38 ears), including 12 males and 7 females. The average onset age was (16.9±4.5) years old, while the test age was (22.1±5.8) years old for PTAN group. The PTAM group consisted of 56 patients (112 ears), including 29 males and 27 females. The average onset age was (16.2±7.9) years old, while the test age was (23.9±9.0) yeas old for PTAM group. The average hearing threshold of low frequency (0.125-0.5 kHz) was significantly decreased. ABR disappeared in 86.00% (126/150) of the patients. The speech recognition rate was 71.80±22.44% in the PTAN group and 58.08±29.28% in the PTAM group.-SP/AP was 0.98±0.47 in the PTAN and 1.07±0.63 in PTAM group; 40 (53.33%) patients had tinnitus. 29 patients (58 ears) were followed up, including 10 patients (20 ears) in the PTAN group and 19 patients (38 ears) in the PTAM group. There was no significant change in hearing threshold in short-term follow-up (<3 years). With the extension of the disease duration (>3 years), the PTAN group tended to decrease at low frequency, and the PTAM group decreased at high frequency first. The hearing threshold at 0.25 kHz in the PTAN group and 4 kHz in the PTAM group decreased significantly. Conclusions: AN patients with normal hearing or mild hearing loss exhibit abnormal results in audiological examination results, including ABR, electrocochleography and speech discrimination score. A combination of audiological tests should be used to make the diagnosis of AN. With the progression of the disease, AN with normal hearing or mild hearing loss tends to decrease.


Assuntos
Audiometria de Tons Puros , Limiar Auditivo , Perda Auditiva Central , Humanos , Perda Auditiva Central/diagnóstico , Perda Auditiva Central/fisiopatologia , Masculino , Feminino , Adulto , Adulto Jovem , Adolescente , Perda Auditiva/diagnóstico , Perda Auditiva/fisiopatologia , Criança , Pessoa de Meia-Idade
9.
Nan Fang Yi Ke Da Xue Xue Bao ; 44(4): 787-794, 2024 Apr 20.
Artigo em Chinês | MEDLINE | ID: mdl-38708514

RESUMO

OBJECTIVE: To investigate the therapeutic effect of Euryale ferox seed shell extract on oral ulcer in rats and its underlying mechanism. METHODS: The contents of polyphenols and flavonoids in Euryale ferox seed shells were determined by Folin-phenol assay and aluminum nitrate colorimetry, respectively. DPPH·, ABTS+·, ·OH and·O2- scavenging experiments were performed to evaluate the antioxidant activities of Euryale ferox seed shell extract in vitro. In a rat model of oral ulcer induced by burning with glacial acetic acid, the therapeutic effect of Euryale ferox seed shell extract was assessed by detecting changes in serum levels of oxidative factors by enzyme-linked immunosorbent assay (ELISA) and observing pathological changes of the ulcerous mucosa using HE staining; the therapeutic mechanism of the extract was explored by detecting the expression levels of Keap1, Nrf2, Nes-Nrf2 and HO-1 proteins in ulcerous mucosa using Western blotting. RESULTS: The ethyl acetate extract of Euryale ferox seed shells contained 306.74±1.04 mg/g polyphenols and 23.43±0.61 mg/g flavonoids and had IC50 values for scavenging DPPH· and ABTS+· free radicals of 3.42 ± 0.97 µg/mL and 3.32 ± 0.90 µg/mL, respectively. In the rat models, the ethyl acetate extract significantly ameliorated oral mucosal ulcer, increased serum CAT level, and decreased serum MDA level. The protein expression levels of Nes-Nrf2 and HO-1 were increased and Keap1 protein expression was lowered significantly in the ulcerous mucosa of the rats after treatment with the extract (P<0.05 or 0.01). CONCLUSION: The therapeutic effect of Euryale ferox seed shell extract on oral ulcers in rats is mediated probably by activation of the Keap1/Nrf2/HO-1 signaling pathway.


Assuntos
Antioxidantes , Flavonoides , Fator 2 Relacionado a NF-E2 , Úlceras Orais , Extratos Vegetais , Sementes , Animais , Ratos , Sementes/química , Antioxidantes/farmacologia , Extratos Vegetais/farmacologia , Extratos Vegetais/uso terapêutico , Úlceras Orais/tratamento farmacológico , Úlceras Orais/metabolismo , Fator 2 Relacionado a NF-E2/metabolismo , Flavonoides/farmacologia , Flavonoides/uso terapêutico , Proteína 1 Associada a ECH Semelhante a Kelch/metabolismo , Masculino , Polifenóis/farmacologia , Nymphaeaceae/química
10.
Zhonghua Yi Xue Za Zhi ; 104(18): 1623-1627, 2024 May 14.
Artigo em Chinês | MEDLINE | ID: mdl-38742350

RESUMO

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.


Assuntos
RNA Helicases DEAD-box , Mutação , Ribonuclease III , Neoplasias da Glândula Tireoide , Humanos , Ribonuclease III/genética , RNA Helicases DEAD-box/genética , Neoplasias da Glândula Tireoide/genética , Neoplasias da Glândula Tireoide/patologia , Adulto , Pessoa de Meia-Idade , Feminino , Proteínas Proto-Oncogênicas B-raf/genética , Masculino
11.
Zhonghua Yu Fang Yi Xue Za Zhi ; 58(5): 608-614, 2024 May 06.
Artigo em Chinês | MEDLINE | ID: mdl-38715499

RESUMO

Atmospheric particulate matter has an association with respiratory system inflammation, and low molecular weight hyaluronic acid (LMW-HA) is a key biomarker of inflammatory cascade reaction. This review summarized the possible pathways and biomarkers of atmospheric particulate matter causing respiratory system inflammation through high molecular weight hyaluronic acid (HMW-HA)/LMW-HA imbalance, including the synthesis and decomposition of HA, the reduction of particulate matter and HMW-HA, the increase of LMW-HA, and the relationship between LMW-HA and respiratory system inflammation. Furthermore, inhibitors and therapeutic drugs targeting certain biomarkers were further listed. This review could shed light on the mechanism of respiratory system inflammation caused by atmospheric particulate matter and the weak points that need attention in subsequent research.


Assuntos
Ácido Hialurônico , Inflamação , Material Particulado , Material Particulado/efeitos adversos , Humanos , Peso Molecular , Biomarcadores , Poluentes Atmosféricos/efeitos adversos , Poluentes Atmosféricos/toxicidade
12.
Zhonghua Yi Xue Za Zhi ; 104(20): 1868-1878, 2024 May 28.
Artigo em Chinês | MEDLINE | ID: mdl-38782756

RESUMO

Objective: To investigate the effects of ubiquitin ligase Cullin3 (CUL3) on the proliferation, migration and invasion ability of triple-negative breast cancer (TNBC) cells and its mechanism of action. Methods: Bioinformatics-based methods were used to obtain CUL3 gene and protein expression data in TNBC tissues, and to assess the expression of CUL3 in tumour tissues of TNBC patients (n=160) and in normal breast tissues (n=572), and its relationship with clinical prognosis. The effects of overexpression of CUL3 on the proliferation, migration and invasion ability of TNBC cells in vitro were detected by CCK8 cell proliferation assay, scratch assay and transwell assay; proteins that might interact with CUL3 were screened by immunoprecipitation combined with mass spectrometry analysis, and the substrate protein regulated by CUL3 was identified as Glutathione S-Transferase Pi 1 (GSTP1); the effects of overexpression of GSTP1 on the migration and invasion ability of TNBC cells were detected by scratch assay and Transwell assay, and it was explored whether overexpression of CUL3 could reverse the effects of GSTP1 on the migration and invasion ability of cells; and the effects of overexpression of GSTP1 on the migration and invasion ability of cells were detected by Western blot and IP (Immunoprecipitation) to detect the effect of CUL3 on the ubiquitination modification of GSTP1 protein, and to verify the molecular mechanism by which CUL3 regulates the expression of GSTP1 to affect TNBC migration and invasion. Results: CUL3 expression was significantly higher in TNBC (P<0.000 1), and high CUL3 expression was closely associated with poor prognosis of TNBC patients (OS, P=0.018; RFS, P=0.008); overexpression of CUL3 significantly increased the proliferation of TNBC cells (F=11.97, P=0.002 for the 231-cell group, F=51.92, P<0.001 for the 468-cell group), migration [74.7±4.0 and 128.0±6.1 perforating cells in the overexpression groups of 231 and 468 cell lines, compared with 21.0±2.7 and 70.0±6.6 in the blank control (NC) group, and the t-values of 231 and 468 cell groups were-19.24 and-11.23, with P-values<0.001] and invasive ability (48 h cell proliferation rates were 56.6%±4.4% and 51.6%±3.7% in the 231 and 468 cell line overexpression groups, compared with 40.5%±2.9% and 32.9%±4.8% in the NC group, respectively, t=-5.26, P=0.006 3 in the 231 cell group; t=-5.38 in the 468 cell group, P=0.005 8); GSTP1 expression was reduced in TNBC, and up-regulation of GSTP1 inhibited TNBC cell migration (the number of membrane-penetrating cells in the overexpression groups of 231 and 468 cell lines were 16.3±6.5 and 33.0±6.2, respectively, compared with 34.3±2.5 and 77.3±5.0 in the NC group, and t=5.44 in the 231 cell group, P=0.006; 468 cell group t=7.20, P=0.002) and invasion (48 h cell proliferation rates of 49.6%±1.7% and 36.2%±1.4% in the 231 and 468 cell line overexpression groups, compared to 59.4%±4.7% and 53.0%±1.7% in the NC group, t=3.42, P=0.027 in the 231 cell group; 468 cell group t=13.18, P<0.001), whereas up-regulation of CUL3 reversed the effects of GSTP1 on cell migration (37.0±1.0 and 67.0±5.3 membrane-penetrating cells in the overexpression groups of 231 and 468 cell lines, respectively, 231 cell group t=-3.97, P=0.017; 468 cell group t=-6.12, P=0.004), and invasion (48 h cell proliferation rates of 71.9%±3.6% and 59.4%±2.1% in the 231 and 468 cell line overexpression groups, respectively, with t-values of -9.61 and -16.01 in the 231 and 468 cell groups, respectively, P-values<0.001) inhibitory effects; and CUL3, by increasing GSTP1 ubiquitylation modification, promotes ubiquitin-proteasome system to degrade GSTP1 protein, thereby reducing the stability of GSTP1 protein. Conclusion: Overexpression of CUL3 promotes TNBC development by promoting GSTP1 ubiquitination degradation inducing cell migration and invasion.


Assuntos
Movimento Celular , Proliferação de Células , Proteínas Culina , Invasividade Neoplásica , Neoplasias de Mama Triplo Negativas , Humanos , Neoplasias de Mama Triplo Negativas/patologia , Neoplasias de Mama Triplo Negativas/metabolismo , Proteínas Culina/metabolismo , Linhagem Celular Tumoral , Feminino , Prognóstico , Ubiquitinação
13.
Zhonghua Er Ke Za Zhi ; 62(6): 520-525, 2024 May 15.
Artigo em Chinês | MEDLINE | ID: mdl-38763872

RESUMO

Objective: To investigate the clinical features and outcomes of adolescence-onset methylmalonic acidemia (MMA) and explore preventive strategies. Methods: This was a retrospective case analysis of the phenotypes, genotypes and prognoses of adolescence-onset MMA patients. There were 55 patients diagnosed in Peking University First Hospital from January 2002 to June 2023, the data of symptoms, signs, laboratory results, gene variations, and outcomes was collected. The follow-ups were done through WeChat, telephone, or clinic visits every 3 to 6 months. Results: Among the 55 patients, 31 were males and 24 were females. The median age of onset was 12 years old (range 10-18 yearsold). They visited clinics at Tanner stages 2 to 5 with typical secondary sexual characteristics. Nine cases (16%) were trigged by infection and 5 cases (9%) were triggered by insidious exercises. The period from onset to diagnosis was between 2 months and 6 years. Forty-five cases (82%) had neuropsychiatric symptoms as the main symptoms, followed by cardiovascular symptoms in 12 cases (22%), kidney damage in 7 cases (13%), and eye disease in 12 cases (22%). Fifty-four cases (98%) had the biochemical characteristics of methylmalonic acidemia combined with homocysteinemia, and 1 case (2%) had the isolated methylmalonic acidemia. Genetic diagnosis was obtained in 54 cases, with 20 variants identified in MMACHC gene and 2 in MMUT gene. In 53 children with MMACHC gene mutation,1 case had dual gene variants of PRDX1 and MMACHC, with 105 alleles. The top 5 frequent variants in MMACHC were c.482G>A in 39 alleles (37%), c.609G>A in 17 alleles (16%), c.658_660delAAG in 11 alleles (10%), c.80A>G in 10 alleles (10%), c.567dupT and c.394C>T both are 4 alleles (4%). All patients recovered using cobalamin, L-carnitine, betaine, and symptomatic therapy, and 54 patients (98%) returned to school or work. Conclusions: Patients with adolescence-onset MMA may triggered by fatigue or infection. The diagnosis is often delayed due to non-specific symptoms. Metabolic and genetic tests are crucial for a definite diagnosis. Treatment with cobalamin, L-carnitine, and betaine can effectively reverse the prognosis of MMA in adolescence-onset patients.

14.
Artigo em Inglês | MEDLINE | ID: mdl-38763938

RESUMO

The protection of Earth's stratospheric ozone (O3) is an ongoing process under the auspices of the universally ratified Montreal Protocol and its Amendments and adjustments. A critical part of this process is the assessment of the environmental issues related to changes in O3. The United Nations Environment Programme's Environmental Effects Assessment Panel provides annual scientific evaluations of some of the key issues arising in the recent collective knowledge base. This current update includes a comprehensive assessment of the incidence rates of skin cancer, cataract and other skin and eye diseases observed worldwide; the effects of UV radiation on tropospheric oxidants, and air and water quality; trends in breakdown products of fluorinated chemicals and recent information of their toxicity; and recent technological innovations of building materials for greater resistance to UV radiation. These issues span a wide range of topics, including both harmful and beneficial effects of exposure to UV radiation, and complex interactions with climate change. While the Montreal Protocol has succeeded in preventing large reductions in stratospheric O3, future changes may occur due to a number of natural and anthropogenic factors. Thus, frequent assessments of potential environmental impacts are essential to ensure that policies remain based on the best available scientific knowledge.

15.
J Endocrinol Invest ; 2024 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-38787506

RESUMO

PURPOSE: Thyroid cancer is one of a set of extrahepatic cancers that closely linked to metabolic dysfunction-associated fatty liver disease (MAFLD). However, the connection between MAFLD and the characteristics of papillary thyroid cancer (PTC) remains unexplored. METHODS: Between Jan 2020 and Oct 2022, surgical cases of PTC patients were examined at the first Affiliated Hospital of Wenzhou Medical University. Clinical data extracted from the electronic medical system underwent a rigorous comparison between two groups, classified based on MAFLD criteria, using logistic regression analysis. RESULTS: In this study of 4,410 PTC patients, 18.3% had MAFLD. MAFLD emerged as a distinct risk factor for lymph node metastasis (OR = 1.230, 95% CI 1.018-1.487) in this cohort, especially in females (OR = 1.321, 95% CI 1.026-1.702) and those with BMI ≥ 23 kg/m2 (OR = 1.232, 95% CI 1.004-1.511). The presence of MAFLD was found to significantly elevate the risk of BRAF V600E mutation in both subgroups characterized by FIB-4 score ≥ 1.3 (OR = 1.968, 95% CI 1.107-3.496) and BMI < 23 kg/m2 (OR = 2.584, 95% CI 1.012-6.601). Moreover, among the subset of individuals without non-alcoholic fatty liver disease (NAFLD), it was noted that MAFLD considerably increased the likelihood of tumor multifocality (OR = 1.697, 95% CI 1.111-2.592). Nevertheless, MAFLD did not exhibit any correlation with increased tumor size, extra-thyroidal extension (ETE), or later TNM stage in PTC. CONCLUSION: In this cross-sectional study, we discovered a significant association between MAFLD and increased occurrences of lymph node metastasis. Furthermore, MAFLD was linked to a higher chance of BRAF V600E mutation and the presence of multiple tumors in certain subgroups.

17.
Eur Rev Med Pharmacol Sci ; 28(6): 2329-2339, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38567596

RESUMO

OBJECTIVE: The aim of the study was to investigate the "Internet + rehabilitation guidance" under the theory of Information-Knowledge-Attitude-Practice (IKAP) in patients with esophageal cancer during the perioperative period and to analyze the influence on the short-term prognosis of patients with esophageal cancer. PATIENTS AND METHODS: From April 2022 to February 2023, 118 patients who underwent radical esophagectomy in the First Hospital of Huai'an Affiliated Hospital of Nanjing Medical University were enrolled using the convenience sampling method. They were divided into the IKAP group (59 cases) and the Control Group (Group C) (59 cases), according to the random number table method. The conventional intervention was performed during the perioperative period, and the IKAP group was also given "Internet + rehabilitation guidance" based on IKAP theory. The first postoperative defecation time, exhaust time, feeding time, discharge time, and postoperative complication rate of the two groups were compared. Meanwhile, blood samples were collected before surgery and 1, 3, 7, and 30 days after surgery (at outpatient review) for the detection of inflammatory factor indexes and nutritional indexes. RESULTS: Patients within the IKAP group showed a shorter first postoperative exhaust and defecation time, eating time, and hospital compared to the control group (p<0.05). Before surgery, there was no significant difference in serum inflammatory factors and nutritional indexes between the two groups (p>0.05). Comparing the levels of serum inflammatory factors in the two groups after surgery, the levels of CRP and IL-6 in the IKAP group were lower than those in the control group on days 1, 3, and 7 after surgery. After 30 days, the serum CRP level was found to be lower than the control group, but no statistical difference with the control level of serum IL-6 (p<0.05) was found. Compared with the serum nutritional index levels in the two groups: 1 d after surgery, the serum HGB, PA, and TRF levels were not different (p>0.05). The serum ALB level in the IKAP group was higher than that in the control group (p<0.05). Postoperative 3 d, 7 d, the serum levels of HGB, ALB, PA, and TRF in the IKAP group were higher than those in the control group (p<0.05). After 30 d, there was no statistical difference in serum HGB levels between the two groups (p<0.05); Serum ALB, PA, and TRF levels in the IKAP group were higher than those in the control group (p<0.05). From preoperative to 30 days after surgery, serum CRP and IL-6 levels in 2 groups were first increased and then decreased, while serum HGB, ALB, PA, and TRF levels were first decreased and then increased. After surgery, the IKAP group showed a greater incidence of complications in patients than in controls (p<0.05). CONCLUSIONS: In patients with esophageal cancer, perioperative "Internet + rehabilitation guidance" based on IKAP theory can effectively shorten the postoperative gastrointestinal function recovery time and rapidly reduce the inflammatory response, improving the nutritional status of the body, thereby reducing the risk of short-term postoperative complications.


Assuntos
Neoplasias Esofágicas , Interleucina-6 , Humanos , Prognóstico , Complicações Pós-Operatórias/etiologia , Período Perioperatório/efeitos adversos , Inflamação/complicações , Neoplasias Esofágicas/cirurgia
18.
Zhonghua Bing Li Xue Za Zhi ; 53(4): 370-376, 2024 Apr 08.
Artigo em Chinês | MEDLINE | ID: mdl-38556821

RESUMO

Objective: To investigate the clinicopathological features of colorectal adenocarcinoma with enteroblastic differentiation (CAED). Methods: Eight cases of CAED diagnosed at the Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China from January 2017 to August 2023 were collected. The histopathological, immunohistochemical, molecular and prognostic features of 8 CAED cases were analyzed. The relevant studies were also reviewed. Results: Among the eight patients, there were six males and two females, with an average age of 58 years (range: 29-77 years, median age: 61.5 years). Preoperative serum alpha-fetoprotein levels were elevated in five patients (14.0-286.6 µg/L). Four tumors were located in the colon, and four tumors in the rectum. Two patients were clinically staged as advanced stage (stage Ⅳ), and distant metastasis occurred at the initial diagnosis (one case had liver metastasis, and the other had lung, bone and multiple lymph nodes metastases). Six patients were clinically staged as locally-advanced stage (Stage Ⅱ-Ⅲ). Three of them developed distant metastases after surgery (one case had liver metastasis, one case had lung metastasis, and one case had peritoneal metastasis). Additionally, two patients died at 9 months and 24 months after surgery, respectively. The tumors were composed of various proportions of adenocarcinoma components with enteroblastic differentiation (30%-100%) and classical tubular adenocarcinoma components. The component with enteroblastic differentiation exhibited morphology similar to embryonic intestinal epithelium: cuboidal or columnar tumor cells arranged in tubular, papillary, cribriform, or solid nest patterns, with clear cytoplasm. Immunohistochemical studies showed that tumor cells expressed at least one oncofetal protein (SALL4, Glypican-3, and AFP). In addition, focal squamous differentiation was observed in 3 cases (3/8). Compared to the primary tumor, both CAED and squamous differentiation components were increased in the metastatic tumors. Based on the sequencing results of KRAS, NRAS and BRAF of the primary and/or metastatic tumors, 5 cases were wild-type, while KRAS exon 2 (G13D) mutations were identified in 2 cases. Conclusions: CAED is a rare colorectal malignancy with a dismal prognosis. Accurate pathological diagnosis is prognostically valuable. The histological features of enteroblastic differentiation, elevated serum AFP levels, and the expression of oncofetal proteins play an important role in the tumor diagnosis.


Assuntos
Adenocarcinoma , Carcinoma de Células Escamosas , Neoplasias Colorretais , Neoplasias Hepáticas , Neoplasias Gástricas , Masculino , Feminino , Humanos , Pessoa de Meia-Idade , alfa-Fetoproteínas/metabolismo , Proteínas Proto-Oncogênicas p21(ras)/genética , Neoplasias Gástricas/patologia , China , Adenocarcinoma/patologia , Diferenciação Celular , Biomarcadores Tumorais/metabolismo
19.
Opt Lett ; 49(7): 1757-1760, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38560855

RESUMO

High-precision IFOG requires an optical sensitivity of up to 10-8 rads-1 for interferometers; noise and error are two of the main reasons limiting its accuracy improvement. Any potential source of the signal error is worth being studied. This article introduces work on the modulation signal error caused by the mechanical vibration energy loss of MIOC crystals. This article theoretically derives and simulates the frequency spectrum of an energy loss from the perspective of electromechanical coupling and verifies it through experiments. This article also verifies the influence of MIOC mechanical loss on the output of a Sagnac interferometer through experiments. This study is an indispensable part of the bottleneck for improving the accuracy of ultrahigh-precision closed-loop IFOG and has potential engineering application value.

20.
Zhonghua Yi Xue Za Zhi ; 104(14): 1149-1154, 2024 Apr 09.
Artigo em Chinês | MEDLINE | ID: mdl-38583045

RESUMO

Objective: To investigate the altered function of the semicircular canal and otolith graviceptive pathway in patients diagnosed with motion sickness disorder (MSD) based on the diagnostic criteria of the Bárány society, and explore its relevance to the pathogenesis of MSD. Methods: This is a case-control study. Twenty patients with MSD and age-and sex-matched healthy controls without a history of MSD from the Department of Neurology of Aerospace Center Hospital between March and August 2022 were recruited. All subjects completed the motion sickness susceptibility questionnaire-short version (MSSQ-short) and the motion sickness assessment questionnaire (MSAQ). Canal function was evaluated using caloric stimulation test and video head impulse test (vHIT), and subjective visual vertical/horizontal (SVV/SVH) and vestibular evoked myogenic potential (VEMP) were employed to assess otolith graviceptive function. Differences in vestibular function and correlations between the two groups were analyzed. Results: Each group consisted of 20 cases (9 males and 11 females). The mean age of the MSD and control groups was (26.9±3.9) years and (27.0±3.4) years, respectively. The scores of MSSQ-short [27.0 (22.5, 38.8) vs 1.2 (0, 3.2), P<0.001] and MSAQ [70.1 (54.5, 78.1) vs 11.8 (11.1, 13.9), P<0.001] were significantly higher in the MSD group compared with those of the control group. Evaluation of canal function revealed a significantly higher incidence of caloric stimulation intolerance in MSD patients (60.0%, 12/20) compared with that of the control group (20.0%, 4/20) (P=0.010). Evaluation of otolith graviceptive pathway indicated no significant difference in SVV, SVH and cervical VEMP (cVEMP) abnormality rates between the two groups (all P>0.05). The ocular VEMP (oVEMP) abnormality rate was significantly higher in the MSD group (55.0%, 11/20) than that of the control group (10.0%, 2/20) (P=0.002), with a delayed P1-wave latency compared with the control group [(18.4±1.2) ms vs (17.6±0.8) ms, P=0.018]. Further correlation analysis revealed that P1-wave latency in oVEMP was positively correlated with MSSQ-short (r=0.486, P=0.002) and MSAQ (r=0.391, P=0.015) scores, and duration of caloric intolerance symptoms (r=0.377, P=0.004). Conclusion: The presence of hypersensitivity to caloric stimulation and delayed latency of otolith function in patients with MSD suggests a "separation" between semicircular canal and otolithic function, which may be related to sensory conflict.


Assuntos
Enjoo devido ao Movimento , Potenciais Evocados Miogênicos Vestibulares , Masculino , Feminino , Humanos , Adulto Jovem , Adulto , Estudos de Casos e Controles , Membrana dos Otólitos , Potenciais Evocados Miogênicos Vestibulares/fisiologia , Canais Semicirculares/fisiologia
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