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1.
Hum Mol Genet ; 32(13): 2205-2218, 2023 06 19.
Artículo en Inglés | MEDLINE | ID: mdl-37014740

RESUMEN

As an aneuploidy, trisomy is associated with mammalian embryonic and postnatal abnormalities. Understanding the underlying mechanisms involved in mutant phenotypes is broadly important and may lead to new strategies to treat clinical manifestations in individuals with trisomies, such as trisomy 21 [Down syndrome (DS)]. Although increased gene dosage effects because of a trisomy may account for the mutant phenotypes, there is also the possibility that phenotypic consequences of a trisomy can arise because of the presence of a freely segregating extra chromosome with its own centromere, i.e. a 'free trisomy' independent of gene dosage effects. Presently, there are no reports of attempts to functionally separate these two types of effects in mammals. To fill this gap, here we describe a strategy that employed two new mouse models of DS, Ts65Dn;Df(17)2Yey/+ and Dp(16)1Yey/Df(16)8Yey. Both models carry triplications of the same 103 human chromosome 21 gene orthologs; however, only Ts65Dn;Df(17)2Yey/+ mice carry a free trisomy. Comparison of these models revealed the gene dosage-independent impacts of an extra chromosome at the phenotypic and molecular levels for the first time. They are reflected by impairments of Ts65Dn;Df(17)2Yey/+ males in T-maze tests when compared with Dp(16)1Yey/Df(16)8Yey males. Results from the transcriptomic analysis suggest the extra chromosome plays a major role in trisomy-associated expression alterations of disomic genes beyond gene dosage effects. This model system can now be used to deepen our mechanistic understanding of this common human aneuploidy and obtain new insights into the effects of free trisomies in other human diseases such as cancers.


Asunto(s)
Síndrome de Down , Masculino , Ratones , Humanos , Animales , Síndrome de Down/genética , Trisomía/genética , Aneuploidia , Cromosomas , Dosificación de Gen , Modelos Animales de Enfermedad , Mamíferos/genética
2.
J Virol ; 97(11): e0082923, 2023 Nov 30.
Artículo en Inglés | MEDLINE | ID: mdl-37882520

RESUMEN

IMPORTANCE: Several coronaviruses (CoVs) have been detected in domesticated, farmed, and wild meso-carnivores, causing a wide range of diseases and infecting diverse species, highlighting their important but understudied role in the epidemiology of these viruses. Assessing the viral diversity hosted in wildlife species is essential to understand their significance in the cross-species transmission of CoVs. Our focus here was on CoV discovery in meso-carnivores in the Northeast United States as a potential "hotspot" area with high density of humans and urban wildlife. This study identifies novel alphacoronaviruses circulating in multiple free-ranging wild and domestic species in this area and explores their potential epidemiological importance based on regions of the Spike gene, which are relevant for virus-host interactions.


Asunto(s)
Alphacoronavirus , Carnívoros , Heces , Saliva , Animales , Humanos , Alphacoronavirus/clasificación , Alphacoronavirus/genética , Alphacoronavirus/aislamiento & purificación , Animales Domésticos/virología , Animales Salvajes/virología , Carnívoros/virología , Infecciones por Coronavirus/epidemiología , Infecciones por Coronavirus/transmisión , Infecciones por Coronavirus/veterinaria , Heces/virología , Interacciones Microbiota-Huesped , New England/epidemiología , Saliva/virología , Glicoproteína de la Espiga del Coronavirus/química , Glicoproteína de la Espiga del Coronavirus/genética , Glicoproteína de la Espiga del Coronavirus/metabolismo , Zoonosis Virales/transmisión , Zoonosis Virales/virología
3.
Clin Radiol ; 79(1): e57-e64, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37880031

RESUMEN

AIM: To assess the diagnostic value of coronary computed tomography angiography (CCTA) in acute type A aortic dissection (ATAAD) with coronary artery involvement and to evaluate whether CCTA could provide potentially useful information for selecting the surgical method. MATERIALS AND METHODS: Patients with ATAAD treated from January 2019 to December 2020 were reviewed retrospectively. Involvement of the coronary arteries based on CCTA findings were grouped into three major types and five subtypes. Interobserver and intraobserver diagnostic agreement for five subtypes were determined. The patients were divided into the coronary artery bypass grafting (CABG) and non-CABG groups, and the proportions of the five subtypes between the two groups were compared. RESULTS: A total of 95 patients were enrolled in this study. Interobserver and intraobserver diagnostic agreement were both substantial in the left and right coronary arteries. Overall, the proportions of the five subtypes of coronary artery involvement were significantly different between the two groups (p<0.001). The proportion of Type A was elevated in the non-CABG group compared with the CABG group (22.6% versus 71.9%); by contrast, the proportions of Type B1 (35.5% versus 14.1%), Type B2 (19.4% versus 10.9%), Type C1 (6.5% versus 0%), and Type C2 (16.1% versus 3.1%) were elevated in the CABG group. CONCLUSION: CCTA is reliable in evaluating coronary artery involvement by ATAAD. The present retrospective study indicated that CABG may be considered if the intimal flap disrupts the coronary orifice and causes luminal stenosis >50%, particularly Type B, or if an intimal tear occurs in the coronary orifice (Type C), which deserve further validation through prospective studies.


Asunto(s)
Disección Aórtica , Enfermedad de la Arteria Coronaria , Humanos , Vasos Coronarios/diagnóstico por imagen , Angiografía por Tomografía Computarizada , Estudios Retrospectivos , Estudios Prospectivos , Angiografía Coronaria/métodos , Disección Aórtica/diagnóstico por imagen , Enfermedad de la Arteria Coronaria/diagnóstico , Valor Predictivo de las Pruebas
4.
Clin Radiol ; 79(8): e1049-e1056, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38797609

RESUMEN

AIM: To explore the predictive value of morphological signs and quantitative parameters from spectral CT for EGFR gene mutations in intermediate and advanced non-small-cell lung cancer (NSCLC). MATERIALS AND METHODS: This retrospective observational study included patients with intermediate or advanced NSCLC at Xinjiang Medical University Affiliated Tumor Hospital between January 2017 and December 2019. The patients were divided into the EGFR gene mutation-positive and -negative groups. RESULTS: Seventy-nine patients aged 60.75 ± 9.66 years old were included: 32 were EGFR mutation-positive, and 47 were negative. There were significant differences in pathological stage (P<0.001), tumor diameter (P=0.019), lobulation sign, intrapulmonary metastasis, mediastinal lymph node metastasis, distant metastasis (P<0.001), bone metastasis (P<0.001), arterial phase normalized iodine concentration (NIC) (P=0.001), venous phase NIC (P=0.001), slope of the energy spectrum curve (λ) (P<0.001), and CT value at 70 keV in arterial phase (P=0.004) and venous phase (P=0.003) between the EGFR mutation-positive and -negative patients. The multivariable logistic regression analysis showed that intrapulmonary metastasis, distant metastasis, venous phase NIC, venous phase λ, and pathological stage were independent factors predicting EGFR gene mutations, with high diagnostic power (AUC = 0.975, 91.5% sensitivity, and 90.6% specificity). CONCLUSION: The pathological stage and the spectral CT parameters of intrapulmonary metastasis, distant metastasis, venous phase NIC, and venous phase λ might pre-operatively predict EGFR gene mutations in intermediate and advanced NSCLC.


Asunto(s)
Carcinoma de Pulmón de Células no Pequeñas , Receptores ErbB , Neoplasias Pulmonares , Mutación , Valor Predictivo de las Pruebas , Tomografía Computarizada por Rayos X , Humanos , Carcinoma de Pulmón de Células no Pequeñas/genética , Carcinoma de Pulmón de Células no Pequeñas/diagnóstico por imagen , Carcinoma de Pulmón de Células no Pequeñas/patología , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Pulmonares/patología , Masculino , Femenino , Persona de Mediana Edad , Estudios Retrospectivos , Receptores ErbB/genética , Tomografía Computarizada por Rayos X/métodos , Anciano , Pulmón/diagnóstico por imagen , Pulmón/patología
5.
Clin Radiol ; 79(4): 279-286, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38216369

RESUMEN

AIM: To assess the predictive value of T2-weighted (T2W) magnetic resonance imaging (MRI) in combination with diffusion-weighted imaging (DWI) for determining the pathological grading of solid lung adenocarcinoma. MATERIALS AND METHODS: The clinical and imaging data from 153 cases of solid lung adenocarcinoma (82 men, 71 women, mean age 63.2 years) confirmed at histopathology in The First Affiliated Hospital of Xi'an Jiaotong University from January 2017 to May 2022 were analysed retrospectively. Adenocarcinomas were classified into low-grade (G1 and G2) and high-grade (G3) groups following the 2020 pathological grading system proposed by the International Association for the Study of Lung Cancer. The T2-weighted contrast ratio (T2CR), calculated as the T2 signal intensity of the lung mass/nodule divided by the T2 signal intensity of the right rhomboid muscle was utilised. Two experienced radiologists reviewed the MRI images independently, measured the T2CR, and obtained apparent diffusion coefficient (ADC) values. The Mann-Whitney U-test was used to compare general characteristics (sex, age, maximum diameter), T2CR, and ADC values between the low-grade and high-grade groups. The non-parametric Kruskal-Wallis test determined differences in T2CR and ADC values among the five adenocarcinoma subtypes. Receiver characteristic curve (ROC) analysis, along with area under the curve (AUC) calculation, assessed the effectiveness of each parameter in distinguishing the pathological grade of lung adenocarcinoma. A Z-test was used to compare the AUC values. RESULTS: Among the 153 patients with adenocarcinoma, 103 had low-grade adenocarcinoma, and 50 had high-grade adenocarcinoma. The agreement between T2CR and ADC observers was good (0.948 and 0.929, respectively). None of the parameters followed a normal distribution (p<0.05). The ADC value was lower in the high-grade adenocarcinoma group compared to the low-grade adenocarcinoma group (p=0.004), while the T2CR value was higher in the high-grade group (p=0.011). Statistically significant differences were observed in maximum diameter and gender between the two groups (p<0.001 and p=0.005, respectively), while no significant differences were noted in age (p=0.980). Among the five adenocarcinoma subtypes, only the lepidic and micropapillary subtypes displayed statistical differences in ADC values (p=0.047), with the remaining subtypes showing no statistical differences (p>0.05). The AUC values for distinguishing high-grade adenocarcinoma from low-grade adenocarcinoma were 0.645 for ADC and 0.627 for T2CR. Combining T2CR, ADC, sex, and maximum diameter resulted in an AUC of 0.778, sensitivity of 70%, and specificity of 75%. This combination significantly improved diagnostic efficiency compared to T2CR and ADC alone (p=0.008, z = 2.624; p=0.007, z = 2.679). CONCLUSION: The MRI quantitative parameters are useful for distinguishing the pathological grades of solid lung adenocarcinoma, offering valuable insights for precise lung cancer treatment.


Asunto(s)
Adenocarcinoma del Pulmón , Adenocarcinoma , Neoplasias Pulmonares , Masculino , Humanos , Femenino , Persona de Mediana Edad , Estudios Retrospectivos , Imagen de Difusión por Resonancia Magnética/métodos , Imagen por Resonancia Magnética , Adenocarcinoma/diagnóstico por imagen , Adenocarcinoma del Pulmón/diagnóstico por imagen , Neoplasias Pulmonares/diagnóstico por imagen
6.
Clin Radiol ; 79(2): e282-e286, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38087682

RESUMEN

AIM: To assess changes in the susceptibility of the caudate nucleus (CN), putamen, and globus pallidus (GP) in patients with neurological and hepatic Wilson's disease (WD) by quantitative susceptibility mapping (QSM). MATERIAL AND METHODS: The brain MRI images of 33 patients diagnosed with WD and 20 age-matched controls were analysed retrospectively. All participants underwent brain T1-weighted, T2-weighted, and QSM imaging using a 1.5 T magnetic resonance imaging (MRI) machine. QSM maps were evaluated with the STISuite toolbox. The quantitative susceptibility levels of the CN, putamen, and GP were analysed using region of interest analysis on QSM maps. Differences among neurological WD patients, hepatic patients, and controls were determined. RESULTS: Susceptibility levels were significantly higher for all examined structures (CN, putamen and GP) in patients with neurological WD compared with controls (all p<0.05) and hepatic WD patients (all p<0.05). No statistically significant differences were found in susceptibility levels between patients with hepatic WD and controls (all p>0.05). CONCLUSION: The QSM technique is a valuable tool for detecting changes in brain susceptibility in WD patients, indicating abnormal metal deposition. Notably, the current findings suggest that neurological WD patients exhibit more severe susceptibility changes compared with hepatic WD patients. Therefore, QSM can be utilised as a complementary method to detect brain injury in WD patients.


Asunto(s)
Degeneración Hepatolenticular , Humanos , Degeneración Hepatolenticular/diagnóstico por imagen , Degeneración Hepatolenticular/patología , Estudios Retrospectivos , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Mapeo Encefálico/métodos , Imagen por Resonancia Magnética/métodos
7.
Clin Radiol ; 2024 Aug 21.
Artículo en Inglés | MEDLINE | ID: mdl-39266372

RESUMEN

AIMS: To investigate the long-term prognostic value of coronary computed tomography angiography (CCTA)-derived high-risk attributes and radiomic features of pericoronary adipose tissue (PCAT) in diabetic patients for predicting major adverse cardiac event (MACE). METHODS AND RESULTS: Diabetic patients with intermediate pre-test probability of coronary artery disease were prospectively enrolled and referred for CCTA. Three models (model-1 with clinical parameters; model-2 with clinical factors + CCTA imaging parameters; model-3 with the above parameters and PCAT radiomic features) were developed in the training cohort (835 patients) and tested in the independent validation cohort (557 patients). 1392 patients were included and MACEs occurred in 108 patients (7.8%). Multivariable Cox regression analysis revealed that HbA1c, coronary calcium Agatston score, significant stenosis and high-risk plaque were independent predictors for MACE whereas none of PCAT radiomic features showed predictive value. In the training cohort, model-2 demonstrated higher predictive performance over model-1 (C-index = 0.79 vs. 0.68, p < 0.001) whereas model-3 did not show incremental value over model-2(C-index = 0.79 vs. 0.80, p = 0.408). Similar findings were found in the validation cohort. CONCLUSIONS: The combined model (clinical and CCTA high-risk anatomical features) demonstrated high efficacy in predicting MACE in diabetes. PCAT radiomic features failed to show incremental value for risk stratification.

8.
J Endocrinol Invest ; 47(7): 1657-1665, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38183565

RESUMEN

PURPOSE: Remnant cholesterol (RC) is a contributor to cardiovascular diseases, obesity, diabetes, and metabolic syndrome. However, the specific relationship between RC and bone metabolism remains unexplored. Therefore, we aimed to investigate the relationships of RC with hip bone mineral density (BMD) and the risk of low bone mass. METHODS: Physical examination data was collected from men aged < 60 years as part of the Kailuan Study between 2014 and 2018. The characteristics of the participants were compared between RC quartile groups. A generalized linear regression model was used to evaluate the relationship between RC and hip BMD and a logistic regression model was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs) for low bone mass. Additional analyses were performed after stratification by body mass index (BMI) (≥ or < 24 kg/m2). Sensitivity analyses were performed by excluding individuals who were taking lipid-lowering therapy or had cancer, cardiovascular diseases, or diabetes. RESULTS: Data from a total of 7,053 participants were included in the analysis. After adjustment for confounding factors, RC negatively correlated with hip BMD (ß = - 0.0079, 95% CI: - 0.0133, - 0.0025). The risk of low bone mass increased from the lowest to the highest RC quartile, with ORs of 1 (reference), 1.09 (95% CI: (0.82, 1.44), 1.35 (95%CI: 1.02, 1.77), and 1.43 (95% CI: 1.09, 1.89) for Q1, Q2, Q3, and Q4, respectively (P for trend = 0.004) in the fully adjusted model. Compared to RC < 0.80 mmol/l group, the risk of low bone mass increased 39% in RC ≥ 0.80 mmol/l group (P < 0.001). The correlation between RC and hip BMD was stronger in participants with BMI ≥ 24 kg/m2 group (ß = - 0.0159, 95% CI: - 0.0289, - 0.0029). The results of sensitivity analyses were consistent with the main results. CONCLUSION: We have identified a negative correlation between serum RC and hip BMD, and a higher RC concentration was found to be associated with a greater risk of low bone mass in young and middle-aged men.


Asunto(s)
Densidad Ósea , Colesterol , Humanos , Masculino , Estudios Transversales , Densidad Ósea/fisiología , Persona de Mediana Edad , Adulto , Colesterol/sangre , Índice de Masa Corporal , Osteoporosis/epidemiología , Osteoporosis/etiología , Osteoporosis/sangre , Factores de Riesgo , Biomarcadores/sangre
9.
J Endocrinol Invest ; 47(6): 1467-1476, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38112910

RESUMEN

BACKGROUND: Acne vulgaris is a prevalent skin condition. We have found that some acromegaly patients have acne. However, no study has examined the relationship between acromegaly and acne. OBJECTIVE: To explore prevalence and correlation of adult acne in patients with acromegaly. METHODS: For this cross-sectional study, we collected questionnaires, clinical information, and laboratory test results of acromegaly patients from January 2022 to December 2022 at Huashan Hospital. Of the 133 questionnaires returned, 123 had valid responses. RESULTS: Of the 123 patients with acromegaly enrolled in this study, 54.5% had adult acne. No statistically significant difference was found in prevalence between male and female patients. 61.2% of adult acne patients reported late-onset acne. Late-onset acne patients first developed acne years before acromegaly diagnosis (mean of 5.6 years for male and 4.5 years for female patients). Some acne patients have received traditional anti-acne treatment. Moreover, 31% of the patients reported no improvement, and only 3.5% of patients claimed complete resolution of acne after treatment. Before acromegaly treatment, the prevalence of adult acne was 51.2%, with mild acne accounting for 73.0%, moderate acne accounting for 23.8%, and severe acne accounting for 3.2%. After acromegaly treatment, the prevalence of adult acne was significantly decreased to 37.4% (P = 0.007). An overall decrease in acne severity was noted, with 93.5%, 6.5%, and 0% having mild, moderate, and severe acne, respectively. A total of 83.6% of the patients had self-assessed acne remission, and 33.3% of the patients reported complete acne resolution. However, 9.0% of patients reported that their condition had worsened after acromegaly treatment. After treatment, GH, IGF-1, IGF-1 index, insulin levels, and HOMA-IR decreased significantly in all patients with acromegaly (P < 0.05). Acne remission correlated positively with IGF-1 levels, but not with GH levels. The relationship between acromegaly and acne remains to be elucidated. CONCLUSIONS: Our findings provide preliminary evidence of the high prevalence of adult acne in acromegaly patients, and a high rate of late-onset acne as well. Traditional anti-acne treatments are less effective. Acne could be considerably relieved by treating acromegaly. Acne remission positively correlated with IGF-1 decline as well, which revealed the correlation between acne and IGF-1.


Asunto(s)
Acné Vulgar , Acromegalia , Humanos , Acné Vulgar/epidemiología , Acromegalia/epidemiología , Acromegalia/sangre , Acromegalia/terapia , Acromegalia/complicaciones , Masculino , Femenino , Estudios Transversales , Adulto , Estudios Retrospectivos , Prevalencia , Persona de Mediana Edad , Adulto Joven , Anciano
10.
Int J Mol Sci ; 25(19)2024 Oct 02.
Artículo en Inglés | MEDLINE | ID: mdl-39408969

RESUMEN

L-cone opsin expression by gene therapy is a promising treatment for blue cone monochromacy (BCM) caused by congenital lack of long- and middle-wavelength-sensitive (L/M) cone function. Eight patients with BCM and confirmed pathogenic variants at the OPN1LW/OPN1MW gene cluster participated. Optical coherence tomography (OCT), chromatic perimetry, chromatic microperimetry, chromatic visual acuity (VA), and chromaticity thresholds were performed with unmodified commercial equipment and/or methods available in the public domain. Adaptive optics scanning laser ophthalmoscope (AOSLO) imaging was performed in a subset of patients. Outer retinal changes were detectable by OCT with an age-related effect on the foveal disease stage. Rod and short-wavelength-sensitive (S) cone functions were relatively retained by perimetry, although likely impacted by age-related increases in the pre-retinal absorption of short-wavelength lights. The central macula showed a large loss of red sensitivity on dark-adapted microperimetry. Chromatic VAs with high-contrast red gratings on a blue background were not detectable. Color vision was severely deficient. AOSLO imaging showed reduced total cone density with majority of the population being non-waveguiding. This study developed and evaluated specialized outcomes that will be needed for the determination of efficacy and safety in human clinical trials. Dark-adapted microperimetry with a red stimulus sampling the central macula would be a key endpoint to evaluate the light sensitivity improvements. VA changes specific to L-opsin can be measured with red gratings on a bright blue background and should also be considered as outcome measures in future interventional trials.


Asunto(s)
Defectos de la Visión Cromática , Terapia Genética , Células Fotorreceptoras Retinianas Conos , Opsinas de Bastones , Tomografía de Coherencia Óptica , Agudeza Visual , Humanos , Defectos de la Visión Cromática/terapia , Defectos de la Visión Cromática/genética , Terapia Genética/métodos , Adulto , Masculino , Femenino , Tomografía de Coherencia Óptica/métodos , Persona de Mediana Edad , Opsinas de Bastones/genética , Opsinas de Bastones/metabolismo , Células Fotorreceptoras Retinianas Conos/metabolismo , Células Fotorreceptoras Retinianas Conos/fisiología , Adolescente , Adulto Joven , Retina/metabolismo , Retina/diagnóstico por imagen , Niño , Pruebas del Campo Visual , Visión de Colores , Opsinas de los Conos/genética , Opsinas de los Conos/metabolismo
11.
Zhonghua Nei Ke Za Zhi ; 63(10): 996-1000, 2024 Oct 01.
Artículo en Zh | MEDLINE | ID: mdl-39375119

RESUMEN

From October 2021 to February 2023, we retrospectively analyzed the clinical and laboratory data of six patients (three male and three female, median age: 54 years, age range: 29-73 years) with mast cell leukemia (MCL) diagnosed in the First Affiliated Hospital of Soochow University (The Mastocytosis Collaborative Network of China). All patients had acute MCL, with at least one C-finding present. The main clinical presentations were hypoalbuminemia (n=4), fatigue (n=3), fever (n=2), abdominal discomfort (n=2), osteolytic lesions (n=2), dizziness (n=1), skin flushing (n=1), and weight loss (n=1). Splenomegaly and lymphadenopathy were noted in six and three patients, respectively. Six patients were strongly positive for CD117, five were positive for CD30 and CD25, and four were positive for CD2. Four patients had a normal karyotype and two patients had an abnormal karyotype. Gene mutations were detected in 4/6 cases. The median serum tryptase level was 24.9 (range: 20.1-171.9) µg/L. Two patients were treated with venetoclax and azacitidine for induction (one patient achieved partial remission by combination with afatinib, while there was no remission after combination with dasatinib in the other patient). Two patients did not achieve complete remission despite treatment with cladribine and imatinib, respectively. One patient treated with interferon combined with glucocorticoids was lost to follow-up, and one patient abandoned treatment. The follow-up time ranged from 1.1 to 21.7 months. Three patients died and two survived. Overall, MCL is a rare subtype of systemic mastocytosis with heterogeneous clinical course, and these patients have poor outcome. A better understanding of the clinical characteristics, treatment, and prognosis of MCL is urgently needed.


Asunto(s)
Leucemia de Mastocitos , Humanos , Persona de Mediana Edad , Masculino , Femenino , Adulto , Anciano , Leucemia de Mastocitos/diagnóstico , Leucemia de Mastocitos/tratamiento farmacológico , Estudios Retrospectivos , Mutación , Proteínas Proto-Oncogénicas c-kit/genética , Azacitidina/uso terapéutico
12.
Med Oral Patol Oral Cir Bucal ; 29(6): e806-e814, 2024 Nov 01.
Artículo en Inglés | MEDLINE | ID: mdl-39396144

RESUMEN

BACKGROUND: Accurate mandibular reconstruction following tumor ablation is important yet challenging. While computer-assisted surgery and surgical navigation have been applied widely in maxillofacial reconstruction, the accuracy and the efficacy remain debatable due to the native mobile nature. This study aimed to evaluate the surgical outcomes and accuracy of mandibular reconstruction aided by different types of adjunctive computer-assisted techniques with or without intraoperative navigation. MATERIAL AND METHODS: Patients with anterior and/or lateral mandibular defects who underwent microvascular mandibular reconstruction aided by adjunct computer-assisted techniques, with or without intraoperative navigation were assessed. The deviations in spatial alignment of the bony segments between the pre-operative and post-operative datasets were measured to evaluate the overall surgical outcomes and accuracy. Independent t-test was performed and p-value less than 0.05 was statistically significant. RESULTS: A total of 93 patients with L/LC or LCL defects who underwent microvascular mandibular reconstruction aided by adjunct computer-assisted techniques with or without surgical navigation were assessed. No significant difference was observed when comparing the mean differences between the preoperative and postoperative intercondylar and intergonial distance in both navigation-assisted and computer-aided design/computer-aided manufacturing (CAD/CAM) groups. There were also no significant differences noted among the different mandibular defects, osteosynthesis plates and types of free flap. CONCLUSIONS: Accurate mandibular reconstruction following tumor resection can be achieved by incorporating intraoperative navigation and adjunctive methods such as computer-assisted techniques and our innovative device, mandibular fixation device.


Asunto(s)
Reconstrucción Mandibular , Cirugía Asistida por Computador , Humanos , Cirugía Asistida por Computador/métodos , Reconstrucción Mandibular/métodos , Masculino , Femenino , Persona de Mediana Edad , Adulto , Anciano , Estudios Retrospectivos , Adulto Joven , Neoplasias Mandibulares/cirugía , Resultado del Tratamiento , Adolescente
13.
Zhonghua Yi Xue Za Zhi ; 104(22): 2074-2078, 2024 Jun 11.
Artículo en Zh | MEDLINE | ID: mdl-38858218

RESUMEN

This study reports a family of patients with 11ß-hydroxylase deficiency (11ß-OHD) caused by a novel mutation in the CYP11B1 gene, and analyzes its clinical and genetic characteristics. The clinical data of a patient with intractable hypertension at Air Force Medical Center on May 16, 2014 were retrospectively analyzed. The patient was clinically diagnosed with congenital adrenal cortical hyperplasia. The clinical data of the patient were further collected and the peripheral blood samples of the patient, his parents and his sister were collected for CYP11B1(NM_000497) gene sequencing, suggesting that the patient had compound heterozygous mutations in exon 1:c.199delG, p.Glu67Lysfs*9 and exon 5:c.905_907 delATGinsTT, p.Asp302Valfs*23, both of which were pathogenic variants. The patient's father and sister carried heterozygous mutations in exon 1:c.199delG, p.Glu67Lysfs*9, and the mother carried heterozygous mutations in exon 5:c.905_907delATGinsTT, p.Asp302Valfs*23. This study is the first to report a new compound heterozygous mutation in exon 1:c.199delG and exon 5 c.905_907 delATGinsTT of CYP11B1 gene, enriching the database of 11ß-OHD mutations and providing information to further understand the genetic mechanism of the disease.


Asunto(s)
Hiperplasia Suprarrenal Congénita , Mutación , Esteroide 11-beta-Hidroxilasa , Humanos , Esteroide 11-beta-Hidroxilasa/genética , Hiperplasia Suprarrenal Congénita/genética , Masculino , Femenino , Estudios Retrospectivos , Exones , Heterocigoto , Linaje
14.
Zhonghua Yi Xue Za Zhi ; 104(34): 3228-3235, 2024 Sep 03.
Artículo en Zh | MEDLINE | ID: mdl-39193608

RESUMEN

Objective: To develop and validate clinical and radiomics models based on gadolinium ethoxybenzyl diethylenetriamine pentaacetic acid (Gd-EOB-DTPA)-enhanced MRI of dual-phenotype hepatocellular carcinoma (DPHCC) for preoperative differential diagnosis. Methods: Two hundred and fifty inpatients of hepatocellular carcinoma (HCC) confirmed by postoperative pathology, who underwent Gd-EOB-DTPA-enhanced MRI were retrospectively included. A total of 172 inpatients (72 DPHCC and 100 non-DPHCC) were included in Institution 1 (the First Affiliated Hospital of Soochow University) as a training cohort (between January 2020 and July 2023) and 78 inpatients (44 DPHCC and 34 non-DPHCC) were included in Institution 2 (the Third People's Hospital of Nantong) as an external validation cohort(between January 2019 and July 2023). The regions of interest of the tumor were delineated layer by layer in noncontrast phase, arterial phase (AP), portal venous phase (PP) and hepatobiliary phase (HBP) images. The software of FAE was used to extract the radiomics features of the images. Pearson correlation analysis and recursive feature elimination were used for feature selection. Each phase and combined radiomics models were established using logistic regression, linear discriminant analysis and support vector machine. Receiver operating characteristic curve and the areas under the curve (AUC) were used to evaluate and select the dominant radiomics model. The dominant radiomics model was combined with clinically independent predictors to construct a clinical radiomics model. Delong test was used to compare the performance of the models. Results: The age of the training cohort was (59.6±10.4) years, in which there were 135 men (78.5%). In the external validation cohort, the age was (57.8±9.2) years, including 56 men (71.8%). The maximum diameters of the lesions [M (Q1, Q3), 4.7 (2.6, 7.5) vs 2.7 (1.8, 4.4) cm, P<0.001] and the proportion of the multiple lesions (39.5% vs 16.7%, P<0.001) in the training cohort were higher than those in the external validation cohort. In the training group, the proportion of patients with hepatitis B virus (HBV) infection in the DPHCC subgroup (66.7%,48/172) was higher than that in non-DPHCC subgroup (49.0%,49/78,P=0.021). In the external validation cohort, the AUC (95%CI) of the PP [0.835 (0.733-0.937)] and combined radiomics models [0.786 (0.681-0.891)] were significantly higher than that of noncontrast phase [0.451 (0.319-0.584)], AP [0.566 (0.435-0.696)] and HBP models [0.496 (0.363-0.629)] (all P<0.05). There was no significant difference in AUC between PP radiomics model and combined radiomics model (P=0.189). The AUC between the radiomics models and clinical-radiomics models, which were brought into clinically independent variable HBV, showed no significant difference (all P>0.05). Conclusion: Gd-EOB-DTPA-enhanced MRI radiomics model based on portal venous phase may be available for discriminating DPHCC from non-DPHCC before operation.


Asunto(s)
Carcinoma Hepatocelular , Gadolinio DTPA , Neoplasias Hepáticas , Imagen por Resonancia Magnética , Humanos , Neoplasias Hepáticas/diagnóstico por imagen , Carcinoma Hepatocelular/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Estudios Retrospectivos , Fenotipo , Medios de Contraste , Masculino , Radiómica
15.
Zhonghua Yi Xue Za Zhi ; 104(4): 276-281, 2024 Jan 23.
Artículo en Zh | MEDLINE | ID: mdl-38246772

RESUMEN

Objective: To explore the feasibility and application value of arterial spin labeling (ASL) in evaluating the degree of renal fibrosis after kidney transplantation. Methods: This is a cross-sectional study. Renal transplant recipients who received treatment at the First Affiliated Hospital of Soochow University from December 2021 to December 2022 were enrolled. All participants underwent ASL scan, and the values of renal cortical renal blood flow (RBF) were measured through post-processing software. The participants were divided into different groups according to the Banff interstitial fibrosis score (ci score) of the transplanted kidneys, and then relevant indicators were compared. One-way analysis of variance was conducted to compare the differences in renal cortical RBF among the groups. Spearman correlation analysis was employed to investigate the association between renal cortical RBF and ci score of the transplanted kidney. Receiver operating characteristic curve was used to analyze the diagnostic effectiveness of renal cortical RBF and laboratory indicators for distinguishing varying degrees of fibrosis in transplanted kidneys. The Delong test was utilized to compare the area under the curve (AUC). Results: A total of 60 patients (42 males and 18 females) were included in the study, with a mean age of (44.6±10.8) years. All patients were divided into 4 groups: ci0 group (ci score=0, 11 cases), ci1 group (ci score=1, 21 cases), ci2 group (ci score=2, 20 cases), and ci3 group (ci score=3, 8 cases). With an increase in the degree of fibrosis in the transplanted kidney, there was a corresponding decrease in the renal cortical RBF value. The differences in renal cortical RBF values among the 4 groups were statistically significant[ci0 group: (214.9±28.5) ml·(100 g)-1·min-1; ci1 group: (181.7±29.3) ml·(100 g)-1·min-1; ci2 group: (158.8±39.2) ml·(100 g)-1·min-1; ci3 group: (123.1±27.2) ml·(100 g)-1·min-1; F=14.02, P<0.001]. The renal cortical RBF was moderately negatively correlated with the ci score (r=-0.644, P<0.001). The AUC for discriminating between ci0 and ci1-3 of renal cortical RBF and 24-hour urine protein was 0.881 (95%CI: 0.772-0.950) and 0.680 (95%CI: 0.547-0.795), respectively. The AUC for renal cortical RBF was significantly higher than that for 24-hour urine protein (P=0.047). The renal cortical RBF can distinguish between ci0-1 and ci2-3, as well as ci0-2 and ci3, with the corresponding AUC value of 0.796 (95%CI: 0.673-0.889) and 0.900 (95%CI: 0.795-0.963), respectively. Conclusion: ASL can quantitatively assess renal blood perfusion in transplanted kidneys and demonstrates high operational efficacy in distinguishing varying degrees of fibrosis in the transplanted kidneys.


Asunto(s)
Trasplante de Riñón , Femenino , Masculino , Humanos , Adulto , Persona de Mediana Edad , Estudios Transversales , Riñón , Fibrosis , Aloinjertos
16.
Zhonghua Yu Fang Yi Xue Za Zhi ; 58(6): 756-762, 2024 Jun 06.
Artículo en Zh | MEDLINE | ID: mdl-38955721

RESUMEN

Allergic diseases are affected by both genetic background and environmental factors.In recent years, many studies have shown that allergic diseases are closely related to the gut microbiome.This article will elaborate on the composition of gut microbiome in early life and its relationship with allergies, the mechanism of action, and the influence of gut microbiome colonization on the atopic march, in order to improve the understanding of the relationship between allergy prevention or treatment and gut microbiome in children, and provide new ideas for the early prevention of allergic diseases and the early intervention of allergic processes.


Asunto(s)
Hipersensibilidad , Humanos , Hipersensibilidad/microbiología , Microbiota , Niño , Microbioma Gastrointestinal , Tracto Gastrointestinal/microbiología
17.
Zhonghua Yu Fang Yi Xue Za Zhi ; 58(9): 1478-1484, 2024 Sep 06.
Artículo en Zh | MEDLINE | ID: mdl-39290034

RESUMEN

The Standards for drinking water quality(GB 5749-2022), which has taken effect on April 1, 2023, stipulates that limit values of aesthetic and chemical characteristics of drinking water can be temporarily adjusted in emergencies. However, the national standard does not clearly specify the adjusted period and limit values. This study is based on the principle that the human body will not cause acute toxic damage during short-term exposure, considering the acceptability such as chromaticity, smell, and taste in drinking water, referring to the drinking water quality standards of different countries and regions including the World Health Organization, the United States, the European Union, Japan, Australia, etc. We discussed the limited values during emergencies for 21 aesthetic and chemical characteristics from GB 5749-2022 to guaranine the drinking water safety and human health in emergencies.


Asunto(s)
Agua Potable , Urgencias Médicas , Calidad del Agua , Agua Potable/normas , Agua Potable/análisis , Humanos , Abastecimiento de Agua/normas
18.
Zhonghua Yu Fang Yi Xue Za Zhi ; 58(8): 1252-1255, 2024 Aug 06.
Artículo en Zh | MEDLINE | ID: mdl-39142897

RESUMEN

In order to understand the knowledge, attitude and practice (KAP) of vaccination against influenza, pneumonia, human papillomavirus (HPV), herpes zoster (HZ), COVID-19, and hepatitis B among staff of vaccination units in Shandong Province, a sample survey was conducted among 797 staffs of adult vaccination units in 12 counties (cities and districts) of Shandong Province from August to September 2022. The results showed that the respondents had the highest total score of knowledge and attitude for the COVID-19 vaccine, with the M (Q1, Q3) of 23 (20, 25) and 10 (10, 10), respectively, and had the lowest score of knowledge and attitude for the herpes zoster vaccine, with the M (Q1, Q3) of 19 (15, 22) and 8 (8, 10), respectively. The vaccine-related knowledge point"vaccine applicable population"had the highest score, with the M (Q1,Q3) of 26 (23, 30). The "contraindications/adverse reactions" and "adverse reaction management" had the lowest score, with the M (Q1, Q3) of 24 (20, 29) and 24 (20, 28), respectively. About 89.71% of respondents received one adult vaccine within two years at least. The principal driver for vaccination of 53.58% of recipients was their understanding of vaccines, which was"it was necessary to receive the vaccine". About 66.00% of respondents who had not received any adult vaccine in the past two years had insufficient awareness of the necessity of vaccination and believed that they were in good health and did not need to receive it. In summary, the staff of adult vaccination units in Shandong Province have a poor understanding of the herpes zoster vaccine in terms of vaccines and a relatively poor understanding of"contraindications/adverse reaction and management"in adult vaccination knowledge points.


Asunto(s)
Conocimientos, Actitudes y Práctica en Salud , Vacunación , Humanos , Encuestas y Cuestionarios , Vacunación/psicología , Adulto , China , Vacunas contra la COVID-19 , COVID-19/prevención & control , Personal de Salud/psicología , Masculino , Femenino , Persona de Mediana Edad , Vacunas contra la Influenza
19.
Zhonghua Gan Zang Bing Za Zhi ; 32(6): 481-483, 2024 Jun 20.
Artículo en Zh | MEDLINE | ID: mdl-38964887

RESUMEN

Managing cirrhosis complications is an important measure for improving patients' clinical outcomes. Therefore, in order to provide a complete disease assessment and comprehensive treatment, improve quality of life, and improve the prognosis for patients with cirrhosis, it is necessary to pay attention to complications such as thrombocytopenia and portal vein thrombosis in addition to common or severe complications such as ascites, esophagogastric variceal bleeding, hepatic encephalopathy, and hepatorenal syndrome. The relevant concept that an effective albumin concentration is more helpful in predicting the cirrhosis outcome is gradually being accepted; however, the detection method still needs further standardization and commercialization.


Asunto(s)
Encefalopatía Hepática , Cirrosis Hepática , Humanos , Cirrosis Hepática/complicaciones , Cirrosis Hepática/diagnóstico , Encefalopatía Hepática/etiología , Encefalopatía Hepática/diagnóstico , Encefalopatía Hepática/terapia , Síndrome Hepatorrenal/etiología , Síndrome Hepatorrenal/diagnóstico , Síndrome Hepatorrenal/terapia , Ascitis/etiología , Ascitis/terapia , Ascitis/diagnóstico , Trombocitopenia/etiología , Trombocitopenia/diagnóstico , Trombocitopenia/terapia , Várices Esofágicas y Gástricas/diagnóstico , Várices Esofágicas y Gástricas/etiología , Várices Esofágicas y Gástricas/terapia , Hemorragia Gastrointestinal/etiología , Hemorragia Gastrointestinal/diagnóstico , Hemorragia Gastrointestinal/terapia
20.
Zhonghua Gan Zang Bing Za Zhi ; 32(6): 508-516, 2024 Jun 20.
Artículo en Zh | MEDLINE | ID: mdl-38964893

RESUMEN

Objective: To explore the related factors of thrombocytopenia (TCP) occurrence in patients with cirrhosis. Methods: A cross-sectional study was conducted. Inpatients with an initial diagnosis of cirrhosis at Peking University First Hospital from January 1, 2010 to December 31, 2020 were included. Clinical data such as demographic characteristics, etiology of cirrhosis, complications of cirrhosis, laboratory indicators, Child-Pugh grade, invasive procedures, and mortality during hospitalization were collected. A logistic regression model was used to explore the related factors of TCP occurrence in patients with cirrhosis. Categorical variables were compared by the χ(2) test. The inter-group comparison was performed using continuous variables, a t-test, one-way analysis of variance (ANOVA), or a nonparametric test. Results: There were a total of 2 592 cases of cirrhosis. 75 cases with incomplete clinical data were excluded. 2 517 cases were included for analysis. The median age was 58 (50, 67) years. Males accounted for 64%. 1 435 cases (57.0%) developed TCP, and 434 cases (17.2%) had grade 3-4 TCP. Gender, primary biliary cholangitis (PBC), primary sclerosing cholangitis (PSC), and concomitant esophagogastric varices (EGV) were the major factors associated with TCP. Females were more prone to combine with TCP (OR=1.32, 95%CI: 1.12-1.56, P=0.001). Patients combined with EGV (OR=3.09, 95%CI: 2.63-3.65, P<0.001) were more prone to develop TCP, which was associated with the increased incidence of hypersplenism (P<0.001). Patients with PBC (OR=0.64, 95%CI: 0.50-0.82, P<0.001) and PSC (OR=0.23, 95%CI: 0.06-0.65, P=0.010) were less prone to develop TCP, which was due to the shorter prothrombin time and better coagulation function of PBC patients (P<0.001), and the lower proportion of hypersplenism in combined PSC patients (P=0.004). Patients with TCP and grade 3-4 TCP had a higher rate of hemostatic procedures (P<0.05), but a lower rate of liver biopsy (P<0.05). Patients with grade 3-4 TCP had a higher nosocomial mortality rate compared to those without (P=0.004). Conclusion: TCP is common in patients with cirrhosis. However, TCP occurrence is higher in female patients with EGV and lower in patients combined with PBC and PSC. TCP affects invasive procedures and is associated with adverse outcomes.


Asunto(s)
Cirrosis Hepática , Trombocitopenia , Humanos , Estudios Transversales , Trombocitopenia/etiología , Masculino , Persona de Mediana Edad , Femenino , Cirrosis Hepática/complicaciones , Anciano , Factores de Riesgo , Modelos Logísticos , Cirrosis Hepática Biliar/complicaciones , Adulto
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