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1.
Phys Rev Lett ; 133(8): 083402, 2024 Aug 23.
Artículo en Inglés | MEDLINE | ID: mdl-39241720

RESUMEN

Measuring physical observables requires averaging experimental outcomes over numerous identical measurements. The complete distribution function of possible outcomes or its Fourier transform, known as the full counting statistics, provides a more detailed description. This method captures the fundamental quantum fluctuations in many-body systems and has gained significant attention in quantum transport research. In this Letter, we propose that cusp singularities in the full counting statistics are a novel tool for distinguishing between ordered and disordered phases. As a specific example, we focus on the superfluid-to-Mott transition in the Bose-Hubbard model. Through both analytical analysis and numerical simulations, we demonstrate that the full counting statistics exhibit a cusp singularity as a function of the phase angle in the superfluid phase when the subsystem size is sufficiently large, while it remains smooth in the Mott phase. This discontinuity can be interpreted as a first-order transition between different semiclassical configurations of vortices. We anticipate that our discoveries can be readily tested using state-of-the-art ultracold atom and superconducting qubit platforms.

2.
Br J Haematol ; 202(2): 412-421, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-36929463

RESUMEN

Antinuclear antibody (ANA) can be positive in children with primary immune thrombocytopenia (ITP), but the effect of ANA titre and its variation on outcomes of children with primary ITP remains unclear. Here, we conducted a single-centre retrospective cohort study of children with primary ITP at the Peking Union Medical College Hospital in China. A total of 324 children with primary ITP included in this study were followed for a median time of 25 months. In this cohort, 39.2% had an ANA titre of 1:160 or higher. Results from a generalized estimating equation model revealed that patients with higher ANA titres had lower platelet counts at onset but a higher recovery rate of subsequent platelet counts. Results from Cox regression models adjusted for potential confounders revealed that patients with ANA titres of 1:160 or more were more likely to develop to autoimmune disease (AID) than those without, and the risk of AID development increased with the rise of ANA titres (p value for trend less than 0.001). These data highlight the predictive value of ANA titre for platelet counts and the risk of AID development in children with primary ITP.


Asunto(s)
Anticuerpos Antinucleares , Púrpura Trombocitopénica Idiopática , Humanos , Niño , Estudios Retrospectivos , Recuento de Plaquetas , China/epidemiología
3.
BMC Med Imaging ; 23(1): 26, 2023 02 06.
Artículo en Inglés | MEDLINE | ID: mdl-36747143

RESUMEN

PURPOSE: To verify whether radiomics techniques based on dual-modality ultrasound consisting of B-mode and superb microvascular imaging (SMI) can improve the accuracy of the differentiation between gallbladder neoplastic polyps and cholesterol polyps. METHODS: A total of 100 patients with 100 pathologically proven gallbladder polypoid lesions were enrolled in this retrospective study. Radiomics features on B-mode ultrasound and SMI of each lesion were extracted. Support vector machine was used to classify adenomas and cholesterol polyps of gallbladder for B-mode, SMI and dual-modality ultrasound, respectively, and the classification results were compared among the three groups. RESULTS: Six, eight and nine features were extracted for each lesion at B-mode ultrasound, SMI and dual-modality ultrasound, respectively. In dual-modality ultrasound model, the area under the receiver operating characteristic curve (AUC), classification accuracy, sensitivity, specificity, and Youden's index were 0.850 ± 0.090, 0.828 ± 0.097, 0.892 ± 0.144, 0.803 ± 0.149 and 0.695 ± 0.157, respectively. The AUC and Youden's index of the dual-modality model were higher than those of the B-mode model (p < 0.05). The AUC, accuracy, specificity and Youden's index of the dual-modality model were higher than those of the SMI model (p < 0.05). CONCLUSIONS: Radiomics analysis of the dual-modality ultrasound composed of B-mode and SMI can improve the accuracy of classification between gallbladder neoplastic polyps and cholesterol polyps.


Asunto(s)
Vesícula Biliar , Pólipos , Humanos , Proyectos Piloto , Vesícula Biliar/diagnóstico por imagen , Vesícula Biliar/patología , Diagnóstico Diferencial , Estudios Retrospectivos , Ultrasonografía/métodos , Pólipos/diagnóstico por imagen , Pólipos/patología , Colesterol
4.
Zhongguo Dang Dai Er Ke Za Zhi ; 22(12): 1245-1250, 2020 Dec.
Artículo en Zh | MEDLINE | ID: mdl-33327992

RESUMEN

OBJECTIVE: To investigate the incidence rate of infectious diseases during hospitalization in late preterm infants in Beijing, China, as well as the risk factors for infectious diseases and the effect of breastfeeding on the development of infectious diseases. METHODS: Related data were collected from the late preterm infants who were hospitalized in the neonatal wards of 25 hospitals in Beijing, China, from October 23, 2015 to October 30, 2017. According to the feeding pattern, they were divided into a breastfeeding group and a formula feeding group. The two groups were compared in terms of general status and incidence rate of infectious diseases. A multivariate logistic regression analysis was used to investigate the risk factors for infectious diseases. RESULTS: A total of 1 576 late preterm infants were enrolled, with 153 infants in the breastfeeding group and 1 423 in the formula feeding group. Of all infants, 484 (30.71%) experienced infectious diseases. The breastfeeding group had a significantly lower incidence rate of infectious diseases than the formula feeding group (22.88% vs 31.55%, P=0.033). The multivariate logistic regression analysis showed that breastfeeding was an independent protective factor against infectious diseases (OR=0.534, P=0.004), while male sex, premature rupture of membranes, gestational diabetes mellitus, and asphyxia were risk factors for infectious diseases (OR=1.328, 5.386, 1.535, and 2.353 respectively, P < 0.05). CONCLUSIONS: Breastfeeding can significantly reduce the incidence of infectious diseases and is a protective factor against infectious diseases in late preterm infants. Breastfeeding should therefore be actively promoted for late preterm infants during hospitalization.


Asunto(s)
Lactancia Materna , Enfermedades Transmisibles , Hospitalización , Recien Nacido Prematuro , Beijing/epidemiología , China/epidemiología , Enfermedades Transmisibles/epidemiología , Femenino , Hospitales , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Embarazo
5.
Zhongguo Dang Dai Er Ke Za Zhi ; 16(5): 518-23, 2014 May.
Artículo en Zh | MEDLINE | ID: mdl-24857004

RESUMEN

The clinical data of three Chinese children who had been definitely diagnosed with X-link dominate hypophosphatemic rickets (XLH) by gene mutation analysis of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) were retrospectively studied and the relevant literature was reviewed. PHEX gene mutations were detected in all 3 XLH children; a nonsense mutation (c.58C>T) in one case and splicing mutations (c.1645+1G>A, c.436+1G>A) in the other two cases. Among these mutations, c.436+1G>A was novel. As of January 2014, a total of 329 PHEX gene mutations were reported, primarily within three mutation hot spots, throughout the world. Missense mutations accounted for the highest proportion (24%) among all mutations. There is literature showing geographic differences in the total number of XLH subjects and PHEX mutation types across the world. In the current literature, 89 cases of XLH with 28 types of PHEX mutations have been reported in the population of mainland China. Exon 22 is the most frequent mutation site (18%) and missense mutations are the most common type of mutations (61%). It is concluded that exon 22 is the mutation hot spot and missense mutation is the most common type of mutation in the PHEX gene in Chinese XLH patients and that c.436+1G>A detected in this study is a novel PHEX gene mutation in Chinese with XLH.


Asunto(s)
Raquitismo Hipofosfatémico Familiar/genética , Mutación , Endopeptidasa Neutra Reguladora de Fosfato PHEX/genética , Niño , Preescolar , Femenino , Humanos , Masculino
6.
J Phys Condens Matter ; 36(17)2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-38232392

RESUMEN

The 2D Hubbard model with large repulsion is an important problem in condensed matter physics. At half filling, its ground state is an antiferromagnet (AMF). The dope AMF below half filling is believed to capture the physics of highTcsuperconductors. And the fermion excitation of this dope AMF is theorized as splitting up into holons and spinons that carry charge and spin separately. It is believed that these exotic holons and spinons are the origins of the unusual properties of highTcsuperconductors. Despite the interests in holons and spinons, the direct observations of these excitations remain difficult in solid state experiments. Here, we show that with the rapid advances in the experimental techniques in cold atoms, the direct observation of holons is possible in quantum quench dynamic processes in cold atom settings. We show that the well-known holon-strings generated by the motion of a holon as well as their interferences can be detected by the measurements spin-spin correlations and demonstrate the presence of the Marshall phase associated with a holon string reflecting an underlying AMF background. Moreover, we show that the interferences of the holon strings make a holon propagate anisotropically, with a diffusion pattern clearly distinct from that of spinless fermions. At the same time, we show that these interferences lead to a large suppression in magnetic order in the region swept through by the strings (even to about 95% for some bond). We further demonstrate the Marshall phase of the holon-strings by comparing the dynamics of holon in thetJmodel with that of the so-calledσtJ-model, which is thetJmodel with the Marshall phase removed. The holons in these models propagate entirely differently.

7.
Curr Res Food Sci ; 9: 100821, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39253722

RESUMEN

Two addition orders, i.e., the layer-by-layer (L) and mixed biopolymer (M) orders, were used to generate sodium caseinate - sugar beet pectin electrostatically stabilized o/w emulsions with 0.5% oil and varying sodium caseinate: sugar beet pectin ratios (3:1-1:3) at pH 4.5. Emulsion stability against environmental stresses (i.e., pH, salt addition, thermal treatment, storage and in vitro simulated gastrointestinal digestion) and its astaxanthin encapsulation against degradation during storage and in vitro digestion were evaluated. Results indicated that a total biopolymer concentration of 0.5% was optimal, with the preferred sodium caseinate-sugar beet pectin ratios for L and M emulsions being 1:1 and 1:3, respectively. L emulsions generally exhibited smaller droplet diameters than M emulsions across all ratios, except at 1:3. Lowering the pH to 1.5 substantially reduced the net negative charge of all emulsions, with only L emulsions precipitating at pH 3. M emulsions showed greater tolerance to salt addition, remaining stable up to 500 mM sodium and calcium concentrations, whereas L emulsions destabilized at levels exceeding 50 mM and 30 mM, respectively. All emulsions were stable when heated at 37 °C or 90 °C for 30 min. Astaxanthin degradation rates increased with prolonged storage, reaching 61.66% and 54.08% by day 7 for L and M emulsions, respectively. Encapsulation efficiency of astaxanthin in freshly prepared M emulsions (86.85%) was significantly higher compared to L emulsions (72.82%). M emulsions had 30% and 25% higher encapsulation efficiency of astaxanthin than L emulsions after in vitro digestion for 120 min and 240 min respectively. This study offers suggestions for interface design and process optimization to improve the performance of protein-polysaccharide emulsion systems, such as in beverages and dairy products, as well as their delivery effect of bioactives.

8.
Med Biol Eng Comput ; 2024 Aug 31.
Artículo en Inglés | MEDLINE | ID: mdl-39215783

RESUMEN

Deep learning has been widely used in ultrasound image analysis, and it also benefits kidney ultrasound interpretation and diagnosis. However, the importance of ultrasound image resolution often goes overlooked within deep learning methodologies. In this study, we integrate the ultrasound image resolution into a convolutional neural network and explore the effect of the resolution on diagnosis of kidney tumors. In the process of integrating the image resolution information, we propose two different approaches to narrow the semantic gap between the features extracted by the neural network and the resolution features. In the first approach, the resolution is directly concatenated with the features extracted by the neural network. In the second approach, the features extracted by the neural network are first dimensionally reduced and then combined with the resolution features to form new composite features. We compare these two approaches incorporating the resolution with the method without incorporating the resolution on a kidney tumor dataset of 926 images consisting of 211 images of benign kidney tumors and 715 images of malignant kidney tumors. The area under the receiver operating characteristic curve (AUC) of the method without incorporating the resolution is 0.8665, and the AUCs of the two approaches incorporating the resolution are 0.8926 (P < 0.0001) and 0.9135 (P < 0.0001) respectively. This study has established end-to-end kidney tumor classification systems and has demonstrated the benefits of integrating image resolution, showing that incorporating image resolution into neural networks can more accurately distinguish between malignant and benign kidney tumors in ultrasound images.

9.
World J Pediatr ; 2024 Jul 06.
Artículo en Inglés | MEDLINE | ID: mdl-38970732

RESUMEN

BACKGROUND: Monogenic lupus is defined as systemic lupus erythematosus (SLE)/SLE-like patients with either dominantly or recessively inherited pathogenic variants in a single gene with high penetrance. However, because the clinical phenotype of monogenic SLE is extensive and overlaps with that of classical SLE, it causes a delay in diagnosis and treatment. Currently, there is a lack of early identification models for clinical practitioners to provide early clues for recognition. Our goal was to create a clinical model for the early identification of pediatric monogenic lupus, thereby facilitating early and precise diagnosis and treatment for patients. METHODS: This retrospective cohort study consisted of 41 cases of monogenic lupus treated at the Department of Pediatrics at Peking Union Medical College Hospital from June 2012 to December 2022. The control group consisted of classical SLE patients recruited at a 1:2 ratio. Patients were randomly divided into a training group and a validation group at a 7:3 ratio. A logistic regression model was established based on the least absolute shrinkage and selection operator to generate the coefficient plot. The predictive ability of the model was evaluated using receiver operator characteristic curves and the area under the curve (AUC) index. RESULTS: A total of 41 cases of monogenic lupus patients and 82 cases of classical SLE patients were included. Among the monogenic lupus cases (with a male-to-female ratio of 1:1.05 and ages of onset ranging from birth to 15 years), a total of 18 gene mutations were identified. The variables included in the coefficient plot were age of onset, recurrent infections, intracranial calcifications, growth and developmental delay, abnormal muscle tone, lymphadenopathy/hepatosplenomegaly, and chilblain-like skin rash. Our model demonstrated satisfactory diagnostic performance through internal validation, with an AUC value of 0.97 (95% confidence interval = 0.92-0.97). CONCLUSIONS: We summarized and analyzed the clinical characteristics of pediatric monogenic lupus and developed a predictive model for early identification by clinicians. Clinicians should exercise high vigilance for monogenic lupus when the score exceeds - 9.032299.

10.
JHEP Rep ; 6(8): 101101, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39091991

RESUMEN

Background & Aims: Persistent cholestasis has been associated with poor prognosis after orthotopic liver transplantation. In this study, we aimed to investigate how the accumulation of tauro-beta-muricholic acid (TßMCA), resulting from the reprogramming of bile acid (BA) metabolism during liver ischemia/reperfusion (IR) stress, attenuates liver inflammation. Methods: Ingenuity Pathway Analysis was performed using transcriptome data from a murine hepatic IR model. Three different models of hepatic IR (liver warm IR, bile duct separation-IR, common bile duct ligation-IR) were employed. We generated adeno-associated virus-transfected mice and CD11b-DTR mice to assess the role of BAs in regulating the myeloid S1PR2-GSDMD axis. Hepatic BA levels were analyzed using targeted metabolomics. Finally, the correlation between the reprogramming of BA metabolism and hepatic S1PR2 levels was validated through RNA-seq of human liver transplant biopsies. Results: We found that BA metabolism underwent reprogramming in murine hepatocytes under IR stress, leading to increased synthesis of TßMCA, catalyzed by the enzyme CYP2C70. The levels of hepatic TßMCA were negatively correlated with the severity of hepatic inflammation, as indicated by the serum IL-1ß levels. Inhibition of hepatic CYP2C70 resulted in reduced TßMCA production, which subsequently increased serum IL-1ß levels and exacerbated IR injury. Moreover, our findings suggested that TßMCA could inhibit canonical inflammasome activation in macrophages and attenuate inflammatory responses in a myeloid-specific S1PR2-GSDMD-dependent manner. Additionally, Gly-ßMCA, a derivative of TßMCA, could effectively attenuate inflammatory injury in vivo and inhibit human macrophage pyroptosis in vitro. Conclusions: IR stress orchestrates hepatic BA metabolism to generate TßMCA, which attenuates hepatic inflammatory injury by inhibiting the myeloid S1PR2-GSDMD axis. Bile acids have immunomodulatory functions in liver reperfusion injury that may guide therapeutic strategies. Impact and implications: Our research reveals that liver ischemia-reperfusion stress triggers reprogramming of bile acid metabolism. This functions as an adaptive mechanism to mitigate inflammatory injury by regulating the S1PR2-GSDMD axis, thereby controlling the release of IL-1ß from macrophages. Our results highlight the crucial role of bile acids in regulating hepatocyte-immune cell crosstalk, which demonstrates an immunomodulatory function in liver reperfusion injury that may guide therapeutic strategies targeting bile acids and their receptors.

11.
Clin Rheumatol ; 43(3): 1171-1181, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38253779

RESUMEN

OBJECTIVES: We aimed to determine the prevalence of cardiovascular involvement in our Blau syndrome (BS) cohort and provide detailed analysis of their cardiovascular manifestations and outcome. We also tried to find out the risk factors for developing cardiovascular involvement. METHODS: Clinical manifestations, laboratory findings, and treatments were reviewed. Clinical features were compared between children with cardiovascular involvement and those without angiocardiopathy. RESULTS: A total of 38 BS children were eligible for final analysis. Among them, 13 (34.2%) developed Takayasu-like vasculitis and/or cardiopathy. Compared with those without angiocardiopathy, recurrent fever was more frequent in BS patients with cardiovascular involvement (p < 0.001). What is more, tumor necrosis factor alpha antagonists (anti-TNF) were more urgently needed in children with cardiovascular involvement (p = 0.015). BS patients with cardiovascular involvement include 4 with Takayasu-like vasculitis and 9 with cardiopathy. The onset of cardiovascular manifestations ranged from 0.75 to 18.5 years of age, with most cases occurring before school period. Symptoms were elusive and lacked specificity, such as dizziness, short of breath, and edema. Some patients were even identified because of the unexpected hypertension during follow-up. Cardiopathy and vasculitis occurred in patients with different genotypes. Imaging changes were discovered before the presentation of the typical triad in 3/4 patients with Takayasu-like vasculitis. Three children developed left ventricular dysfunction with decreased left ventricular ejection fraction. Combination of glucocorticoids and methotrexate with anti-TNF agents is a common treatment option for these BS patients. In the cohort, BS-related cardiovascular involvement was controlled well, with cardiac structural and functional abnormalities completely recovered and slower progression of vasculitis lesions. CONCLUSION: Cardiovascular manifestations is not rare in BS patients. Because of its insidious onset, a systematic and comprehensive assessment of cardiovascular involvement should be performed in newly diagnosed patients with BS. Aggressive initiation of anti-TNF agents may be beneficial to improve the prognosis. Key Points • About 34.2% patients with Blau syndrome developed Takayasu-like vasculitis and/or cardiopathy. • Compared with those without angiocardiopathy, recurrent fever and application of anti-TNF agents were more frequent in BS patients with cardiovascular involvement (p < 0.001, p = 0.015) • Regular assessment of cardiovascular involvement is extremely necessary because of its insidious onset.


Asunto(s)
Artritis , Cardiopatías , Sarcoidosis , Sinovitis , Arteritis de Takayasu , Uveítis , Vasculitis , Niño , Humanos , Inhibidores del Factor de Necrosis Tumoral , Volumen Sistólico , Función Ventricular Izquierda , Fenotipo , Arteritis de Takayasu/complicaciones , Arteritis de Takayasu/tratamiento farmacológico , Arteritis de Takayasu/diagnóstico
12.
Spectrochim Acta A Mol Biomol Spectrosc ; 301: 122982, 2023 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-37315502

RESUMEN

Acrylamide (ACR), a neurotoxin with carcinogenic properties that can affect fertility, is commonly found in fried and baked foods such as potato chips. This study was carried out to predict the ACR content in fried and baked potato chips using near-infrared (NIR) spectroscopy. Effective wavenumbers were identified using competitive adaptive reweighted sampling (CARS) and the successive projections algorithm (SPA). Six wavenumbers (12799 cm-1, 12007 cm-1, 10944 cm-1, 10943 cm-1, 5801 cm-1, and 4332 cm-1) were selected using the ratio (λi/λj) and difference (λi-λj) of any two wavenumbers from the CARS and SPA results. First, partial least squares (PLS) models were established based on full spectral wavebands (12799-4000 cm-1), and the prediction models were subsequently redeveloped based on effective wavenumbers to predict ACR content. Results showed that the full and selected wavenumbers-based PLS models obtained the coefficient of determination (R2) of 0.7707 and 0.6670, respectively, and the root mean square errors of prediction (RMSEP) of 53.0442 µg/kg and 64.3810 µg/kg, respectively, in the prediction sets. The results of this work demonstrate the suitability of NIR spectroscopy as a non-destructive method for predicting ACR content in potato chips.


Asunto(s)
Acrilamida , Espectroscopía Infrarroja Corta , Espectroscopía Infrarroja Corta/métodos , Algoritmos , Análisis de los Mínimos Cuadrados , Alimentos
13.
Food Chem ; 422: 136199, 2023 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-37121208

RESUMEN

Since 5-hydroxymethylfurfural (5-HMF) is carcinogenic to humans, its detection in foods is essential. This study performed near-infrared (NIR) spectroscopy (11998-4000 cm-1) to determine the 5-HMF content in roasted coffee. The random forest (RF) was used to extract important wavenumbers, after which three machine learning models (ordinary least square (OLS), support vector machine (SVM), and RF) were established for the prediction. RF obtained the best prediction results (Rc2 = 0.98 and Rp2 = 0.92) compared with OLS and SVM and effectively extracted the important wavenumbers (11667 cm-1, 11666 cm-1, 10905 cm-1, 7096 cm-1, 7095 cm-1, 7094 cm-1, 7093 cm-1, 7092 cm-1, 5054 cm-1, 5026 cm-1, 5025 cm-1, and 5024 cm-1). The results demonstrated that machine learning models based on NIR spectroscopy could provide a non-destructive approach for determining 5-HMF content in roasted coffee.


Asunto(s)
Café , Espectroscopía Infrarroja Corta , Humanos , Café/química , Espectroscopía Infrarroja Corta/métodos , Análisis de los Mínimos Cuadrados , Semillas/química , Máquina de Vectores de Soporte
14.
Front Endocrinol (Lausanne) ; 14: 1144812, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37143737

RESUMEN

Purpose: The detection of human epidermal growth factor receptor 2 (HER2) expression status is essential to determining the chemotherapy regimen for breast cancer patients and to improving their prognosis. We developed a deep learning radiomics (DLR) model combining time-frequency domain features of ultrasound (US) video of breast lesions with clinical parameters for predicting HER2 expression status. Patients and Methods: Data for this research was obtained from 807 breast cancer patients who visited from February 2019 to July 2020. Ultimately, 445 patients were included in the study. Pre-operative breast ultrasound examination videos were collected and split into a training set and a test set. Building a training set of DLR models combining time-frequency domain features and clinical features of ultrasound video of breast lesions based on the training set data to predict HER2 expression status. Test the performance of the model using test set data. The final models integrated with different classifiers are compared, and the best performing model is finally selected. Results: The best diagnostic performance in predicting HER2 expression status is provided by an Extreme Gradient Boosting (XGBoost)-based time-frequency domain feature classifier combined with a logistic regression (LR)-based clinical parameter classifier of clinical parameters combined DLR, particularly with a high specificity of 0.917. The area under the receiver operating characteristic curve (AUC) for the test cohort was 0.810. Conclusion: Our study provides a non-invasive imaging biomarker to predict HER2 expression status in breast cancer patients.


Asunto(s)
Neoplasias de la Mama , Aprendizaje Profundo , Humanos , Femenino , Neoplasias de la Mama/diagnóstico por imagen , Curva ROC
15.
Pediatr Rheumatol Online J ; 21(1): 117, 2023 Oct 12.
Artículo en Inglés | MEDLINE | ID: mdl-37828538

RESUMEN

BACKGROUND: Aicardi-Goutières syndrome (AGS) is a rare hereditary early-onset encephalopathy characterized by upregulation of the type I interferon pathway, poorly responsive to conventional immunosuppression. CASE PRESENTATION: We describe a 7-year-old Chinese boy who developed symptoms at the age of 6 months. He presented with a chilblain-like rash, leukopenia, neutropenia, elevated liver enzymesgrowth retardation, microcephaly, elevated acute phase reactants, intracranial calcification and leukodystrophy. At the age of 3 years old, whole-exome sequencing confirmed a de novo heterozygous gain-of-function mutation, c.1016 C > A (p.Ala339Asp), in the IFIH1 gene, and he was diagnosed with AGS7. He was treated with ruxolitinib accompanied by steroids and thalidomide for about four years. The rash, hematological manifestations, and the liver function were all improved, but the erythrocyte sedimentation rate remained consistently elevated until the addition of tocilizumab, a monoclonal antibody against interleukin 6. CONCLUSIONS: Ruxolitinib was not successful in suppressing the inflammatory process, and tocilizumab produced highly encouraging results in reducing the inflammatory reaction of AGS. The study makes a significant contribution to the literature because we may found a potential alternative therapeutic option for AGS.


Asunto(s)
Enfermedades Autoinmunes del Sistema Nervioso , Exantema , Malformaciones del Sistema Nervioso , Masculino , Humanos , Lactante , Preescolar , Niño , Mutación , Helicasa Inducida por Interferón IFIH1 , Malformaciones del Sistema Nervioso/tratamiento farmacológico , Enfermedades Autoinmunes del Sistema Nervioso/tratamiento farmacológico , Enfermedades Autoinmunes del Sistema Nervioso/genética
16.
Pediatr Rheumatol Online J ; 21(1): 124, 2023 Oct 17.
Artículo en Inglés | MEDLINE | ID: mdl-37848905

RESUMEN

BACKGROUND: Monogenic autoinflammatory diseases (AIDs) are rare inflammatory diseases caused by genetic variants. The pathogenesis is complex and treatment options are limited. This study aimed to describe the safety and efficacy of thalidomide in the treatment of monogenic AIDs. METHODS: This was a single-center, single-arm, real-world study. From September 2016 to August 2021, patients with monogenic AIDs who met the inclusion and exclusion criteria were given thalidomide for 12 months. There was a 3-month run-in period before dosing. The efficacy and adverse events were evaluated and recorded every 3 months. After 3 and 12 months of thalidomide treatment, clinical manifestations, disease activity score, inflammatory markers, and background medication adjustments were compared with baseline for efficacy analyses. RESULTS: A total of 16 patients entered this study, including 3 with Aicardi-Goutières syndrome (AGS), 4 Blau syndrome, 2 chronic infantile neurologic cutaneous articular syndrome (CINCA), 2 A20 haploinsufficiency (HA20), 1 adenosine deaminase 2 deficiency(DADA2), 1 familial Mediterranean fever (FMF),1 tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS), 1 PLCγ2-associated antibody deficiency and immune dysregulation (PLAID), and 1 stimulator of interferon genes-associated vasculopathy with onset in infancy(SAVI). The efficacy rate in the 16 patients after 3-month and 12-month thalidomide treatment in patients was 56.3%. Twelve patients completed the study, the fever improved in all of them, rash improved in 7 patients, and 5 patients stopped using glucocorticoids or other immunosuppressive agents. C-reactive protein was normal in 8 patients and erythrocyte sedimentation rate was normal in 11 patients. Anorexia and nausea occurred in 2 cases, with no other reported drug-related adverse reactions. CONCLUSION: The largest cohort of monogenic AIDs with the treatment of thalidomide demonstrated that thalidomide can help reduce disease activity and inflammation, reduce the dosage of glucocorticoids, and improve clinical outcomes. Thalidomide is relatively safe in monogenic AIDs.


Asunto(s)
Síndromes Periódicos Asociados a Criopirina , Fiebre Mediterránea Familiar , Enfermedades Autoinflamatorias Hereditarias , Humanos , Niño , Talidomida/efectos adversos , Adenosina Desaminasa , Péptidos y Proteínas de Señalización Intercelular , Enfermedades Autoinflamatorias Hereditarias/tratamiento farmacológico , Enfermedades Autoinflamatorias Hereditarias/genética , Fiebre Mediterránea Familiar/tratamiento farmacológico
17.
Pediatr Rheumatol Online J ; 21(1): 25, 2023 Mar 16.
Artículo en Inglés | MEDLINE | ID: mdl-36927380

RESUMEN

BACKGROUND: Cytomegalovirus (CMV) plays an important role in the pathogenesis of systemic lupus erythematosus (SLE). However, it is not clear whether the anti-CMV treatment has an impact on the prognosis of SLE patients with CMV infection. We aimed to analyze the clinical characteristics and prognosis of CMV infection in pediatric SLE (pSLE) and to evaluate the effect of anti-CMV treatment on pSLE outcome. METHODS: A retrospective study including 146 pSLE from 2012 to 2021 was conducted. CMV-positive and CMV-negative groups were compared by univariate analysis and stepwise logistic multiple regression to analyze the clinical characteristics of CMV infection in pSLE. Generalized estimating equations (GEE) were used to model the longitudinal dynamics of pSLE disease activity with or without CMV infection and anti-CMV treatment. RESULTS: The CMV infection rate was 74.7% (109/146) in this pSLE cohort. CMV-positive pSLE patients were more likely to present positive anti-dsDNA antibody, hypocomplementemia, high SLEDAI-2K score and musculoskeletal involvement (P < 0.05). Survival analysis showed that CMV-positive pSLE patients were more prone to disease flare and poorer outcomes. GEE modeling indicated that CMV phosphoprotein 65 (pp65) titers were positively correlated with SLEDAI-2K, and anti-CMV treatment could better reduce pSLE activity than non-treatment (P < 0.05). CONCLUSIONS: CMV infection is highly prevalent among pSLE patients. Positive anti-dsDNA antibody, hypocomplementemia, high SLEDAI-2K score and musculoskeletal involvement were significant clinical clues indicating CMV infections in pSLE. CMV infection is correlated with higher disease activity and poorer outcome. Anti-CMV treatment can reduce disease activity and flares.


Asunto(s)
Infecciones por Citomegalovirus , Lupus Eritematoso Sistémico , Humanos , Estudios Retrospectivos , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/tratamiento farmacológico , Infecciones por Citomegalovirus/complicaciones , Infecciones por Citomegalovirus/diagnóstico , Infecciones por Citomegalovirus/epidemiología , Pronóstico , Fenotipo , Índice de Severidad de la Enfermedad
18.
World J Pediatr ; 19(5): 438-449, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-36564648

RESUMEN

BACKGROUND: Recombinant human growth hormone (rhGH) therapy has shown to improve height and body composition in children with Prader-Willi syndrome (PWS), the evidence of early rhGH treatment on motor and mental development is still accumulating. This study explored the time effect on psychomotor development, anthropometric indexes, and safety for infants and young children with PWS. METHODS: A phase 3, single-arm, multicenter, self-controlled study was conducted in six sites. Patients received rhGH at 0.5 mg/m2/day for first four weeks, and 1 mg/m2/day thereafter for up to 52 weeks. Motor development was measured using Peabody Developmental Motor Scales-second edition, mental development using Griffiths Development Scales-Chinese (GDS-C). Height standard deviation score (SDS), body weight SDS, and body mass index (BMI) SDS were also assessed. RESULTS: Thirty-five patients were enrolled totally. Significant improvements were observed in height, body weight, and BMI SDS at week 52; GDS-C score showed significant improvement in general quotient (GQ) and sub-quotients. In a linear regression analysis, total motor quotient (TMQ), gross motor quotient (GMQ), and fine motor quotient were negatively correlated with age; however, treatment may attenuate deterioration of TMQ and GMQ. Changes in GQ and locomotor sub-quotient in < 9-month group were significantly higher than ≥ 9-month group. Mild to moderate severity adverse drug reactions were reported in six patients. CONCLUSION: Fifty-two-week treatment with rhGH improved growth, BMI, mental development, and lessened the deterioration of motor function in infants and young children with PWS. Improved mental development was more pronounced when instituted in patients < 9 months old.


Asunto(s)
Hormona de Crecimiento Humana , Síndrome de Prader-Willi , Niño , Preescolar , Humanos , Lactante , Antropometría , Índice de Masa Corporal , Peso Corporal , Hormona de Crecimiento Humana/uso terapéutico , Hormona de Crecimiento Humana/efectos adversos , Síndrome de Prader-Willi/tratamiento farmacológico , Proteínas Recombinantes/efectos adversos
19.
J Phys Condens Matter ; 34(45)2022 Sep 12.
Artículo en Inglés | MEDLINE | ID: mdl-36055249

RESUMEN

The compact groups such asSU(n) andSO(n) groups have been heavily studied and applied in the study of quantum many body systems. However, the non-compact groups such as the real symplectic groups are less touched. In this paper, it is revealed that the quantum dynamics of two-component Bose-Einstein condensate can be described by a non-compact real symplectic groupSp(4,R). With this group, an explicit form of the wavefunction in any time of the evolution can be given, meanwhile, this whole time evolution can be shown to correspond to a trajectory in a six-dimensional manifold. By introducing a polar coordinate, we can visualize this six-dimensional manifold in 2d unit disk and reveal the relation between the behavior of the trajectory in this manifold and the eigenenergies of the Hamiltonian. Furthermore, the time evolution of expectation value of a physical observable such as number operator is proven closely related to the behavior of the trajectory in this manifold.

20.
Artículo en Inglés | MEDLINE | ID: mdl-36034953

RESUMEN

Objective: To explore the relationship between serum omentin, C1q/tumor necrosis factor-related protein-9 (CTRP9), and visceral fat-specific serine protease inhibitor (vaspin) levels in different phenotypes in patients with polycystic ovary syndrome (PCOS). Methods: One hundred PCOS patients treated at our hospital's clinic of reproductive medicine were chosen and included into the research group, and 100 healthy women who came for physical examination during the same time period were included into the control group. According to the definition of obesity by the WHO (body mass index (BMI) ≥25 kg/m2), 100 patients with PCOS were equally divided into obese (study group A) and nonobese (study group B) groups. 100 healthy women were also divided into obese (control group A) and nonobese (control group B) groups with 50 patients each. Comparison among the 4 groups was performed in factors/indicators including the serum omentin, CTRP9, and vaspin levels and biochemical indexes (triglyceride (TG), total cholesterol (TC), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C), fasting insulin (FINS), total testosterone, and homeostasis model assessment of insulin resistance (HOMA-IR) levels), and the correlation analysis was conducted with omentin, CTRP9, and vaspin. Results: There was no significant difference in age, TG, TC, and LDL-C among the 4 groups (P > 0.05). The BMI, WHR, HDL-C, and omentin of the obese phenotype were significantly different from those of the nonobese phenotype (P < 0.05). Among the four groups, FINS, HOMA-IR, and vaspin in group A (obesity) was the highest, and the control group B (nonobese) was the lowest. There was no significant difference in the levels of study group B (nonobese) and control group A (obesity). The level of CTRP9 in the study group was significantly lower than that in the control group (P < 0.05). Taking serum omentin, CTRP9, and vaspin levels of patients in the study group as dependent variables, Pearson correlation analysis showed that the omentin level was negatively correlated with BMI, WHR, FINS, TG, TC, LDL-C, HOMA-IR, and TT levels (P < 0.05) and was positively correlated with the HDL-C level (P < 0.05); CTRP9 level was negatively correlated with BMI, TC, and HOMA-IR (P < 0.05) and was not correlated with age, WHR, FINS, TG, HDL-C, LDL-C, HOMA-IR, and TT levels. The vaspin level was positively correlated with BMI, WHR, FINS, TG, TC, LDL-C, HOMA-IR, and TT levels (P < 0.05) and negatively correlated with HDL-C levels (P < 0.05) and was not correlated with age. Conclusion: When compared with healthy people, PCOS patients have higher serum vaspin levels and lower CTRP9 levels; BMI, TC, LDL-C, FINS, TG, total testosterone, HDL-C levels, waist-to-hip ratio, and HOMA-IR are all closely related to serum vaspin and CTRP9 levels; increasing serum CTRP9 levels and decreasing vaspin levels help to slow progress and promote prognosis of the disease. Serum omentin level is connected with the obesity index but not with PCOS.

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