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The distinctive taste of Sichuan sauce-flavored sausage comes from an intricate microbial metabolism. The correlation between microbial composition and distinct flavor components has not been researched. The study used headspace solid-phase microextraction action with gas chromatography mass spectrometry to find flavor components and high-throughput sequencing of 16S rRNA to look at the diversity and succession of microbial communities. The correlation network model forecasted the connection between essential bacteria and the development of flavors. The study revealed that the primary flavor compounds in Sichuan sauce-flavored sausages were alcohols, aldehydes, and esters. The closely related microbes were Leuconostoc, Pseudomonas, Psychrobacter, Flavobacterium, and Algoriella. The microbes aided in the production of various flavor compounds, such as 1-octen-3-ol, benzeneacetaldehyde, hexanal, (R,R)-2,3-butanediol, and ethyl caprylate. This work has enhanced our comprehension of the diverse functions that bacteria serve in flavor development during the fermentation of Sichuan sauce-flavored sausage.
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OBJECTIVE: To explore the clinical and genetic characteristics of three children with Hyperekplexia. METHODS: Three children who were diagnosed with Hyperekplexia at the Third Affiliated Hospital of Zhengzhou University between June 2018 and March 2020 were selected as the study subjects. Clinical data of the three children were collected. All children were subjected to whole exome sequencing. Pathogenicity of candidate variants were verified by Sanger sequencing and bioinformatic analysis. RESULTS: The three children were all males, and had presented exaggerated startle reflexes and generalized stiffness in response to unexpected auditory or tactile stimulation, or had frequent traumatic falls following exaggerated startle. All children had shown positive nose-tapping reflex, though EEG and cranial MRI exams were all negative. Whole exome sequencing revealed that two children had harbored homozygous variants of the GLRB gene, of which the c.1017_c.1018insAG (p.G340Rfs*14) was unreported previously. The third child had harbored compound heterozygous variants of the GLRA1 gene, among which the c.1262T>A (p.IIe421Asn) variant showed an unreported autosomal recessive inheritance. All children had responded well to clonazepam treatment. CONCLUSION: Patients with Hyperekplexia have typical clinical manifestations. Early clinical identification and genetic analysis can facilitate their diagnosis.
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Secuenciación del Exoma , Hiperekplexia , Receptores de Glicina , Humanos , Masculino , Receptores de Glicina/genética , Niño , Hiperekplexia/genética , Hiperekplexia/fisiopatología , Mutación , Preescolar , Receptores de GABA-A/genética , Pruebas Genéticas , HomocigotoRESUMEN
BACKGROUND: Prenatal diagnosis of Berry syndrome, a rare combination of cardiac anomalies including aortopulmonary window (APW), aortic origin of the right pulmonary artery (RPA), interrupted aortic arch (IAA), hypoplastic aortic arch, or coarctation of the aorta (COA), poses a significant challenge. Due to the rarity of the disease, and the limited case reports available to features the complex malformation of Berry syndrome postpartum, this article introduces an innovative approach to visually showcase this unusual disease. The proposed method provides a comprehensive display of the structural deformities, offering valuable insights for clinical practitioners seeking to comprehend this condition. CASE PRESENTATION: In this report, we present a case where fetal echocardiography aided in diagnosing Berry syndrome, which was later confirmed through postpartum cardiovascular casting. Our experience highlights the importance of using the three-vessel view to diagnose APW and aortic origin of the right pulmonary artery. Additionally, obtaining true cross-sectional and sagittal views by continuously scanning from the three-vessel-trachea view to the long-axis view of the aortic arch is necessary to image IAA or coarctation of the aortic arch. CONCLUSIONS: Early and accurate prenatal diagnosis of Berry syndrome is feasible and our cardiovascular cast can perfectly display the microvascular morphology of the fetal heart, which may have great application prospects for postpartum diagnosis and teaching of complex cardiac abnormalities.
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Defecto del Tabique Aortopulmonar , Cardiopatías Congénitas , Embarazo , Femenino , Humanos , Estudios Transversales , Aorta Torácica/anomalías , Aorta/anomalías , Arteria PulmonarRESUMEN
BACKGROUND: The introduction of ChatGPT-4V's 'Chat with images' feature represents the beginning of the era of large multimodal models (LMMs), which allows ChatGPT to process and answer questions based on uploaded images. This advancement has the potential to transform how surgical teams utilize radiographic data, as radiological interpretation is crucial for surgical planning and postoperative care. However, a comprehensive evaluation of ChatGPT-4V's capabilities in interpret radiological images and formulating treatment plans remains to be explored. PATIENTS AND METHODS: Three types of questions were collected: (1) 87 USMLE-style questions, submitting only the question stems and images without providing options to assess ChatGPT's diagnostic capability. For questions involving treatment plan formulations, a five-point Likert scale was used to assess ChatGPT's proposed treatment plan. The 87 questions were then adapted by removing detailed patient history to assess its contribution to diagnosis. The diagnostic performance of ChatGPT-4V was also tested when only medical history was provided. (2) We randomly selected 100 chest radiography from the ChestX-ray8 database to test the ability of ChatGPT-4V to identify abnormal chest radiography. (3) Cases from the 'Diagnose Please' section in the Radiology journal were collected to evaluate the performance of ChatGPT-4V in diagnosing complex cases. Three responses were collected for each question. RESULTS: ChatGPT-4V achieved a diagnostic accuracy of 77.01% for USMLE-style questions. The average score of ChatGPT-4V's treatment plans was 3.97 (Interquartile Range: 3.33-4.67). Removing detailed patient history dropped the diagnostic accuracy to 19.54% (P<0.0001). ChatGPT-4V achieved an AUC of 0.768 (95% CI: 0.684-0.851) in detecting abnormalities in chest radiography, but could not specify the exact disease due to the lack of detailed patient history. For cases from 'Diagnose Please' ChatGPT provided diagnoses consistent with or very similar to the reference answers. CONCLUSION: ChatGPT-4V demonstrated an impressive ability to combine patient history with radiological images to make diagnoses and directly design treatment plans based on images, suggesting its potential for future application in clinical practice.
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Inteligencia Artificial , Interpretación de Imagen Asistida por Computador , Radiografía , Humanos , Proyectos Piloto , Simulación por ComputadorAsunto(s)
Fibrosarcoma , Neoplasias del Mediastino , Humanos , Fibrosarcoma/cirugía , Fibrosarcoma/patología , Fibrosarcoma/diagnóstico por imagen , Fibrosarcoma/diagnóstico , Neoplasias del Mediastino/patología , Neoplasias del Mediastino/cirugía , Neoplasias del Mediastino/diagnóstico por imagen , Neoplasias del Mediastino/diagnóstico , Lactante , Masculino , Femenino , Tomografía Computarizada por Rayos XRESUMEN
OBJECTIVE: This study aims to comprehensively analyze the clinical characteristics and identify the differentially expressed genes associated with drug-resistant epilepsy (DRE) in patients with focal cortical dysplasia (FCD). METHODS: A retrospective investigation was conducted from July 2019 to June 2022, involving 40 pediatric cases of DRE linked to FCD. Subsequent follow-ups were done to assess post-surgical outcomes. Transcriptomic sequencing and quantitative reverse transcription polymerase chain reaction (qRT-PCR) were used to examine differential gene expression between the FCD and control groups. RESULTS: Among the 40 patients included in the study, focal to bilateral tonic-clonic seizures (13/40, 32.50%) and epileptic spasms (9/40, 22.50%) were the predominant seizure types. Magnetic resonance imaging (MRI) showed frequent involvement of the frontal (22/40, 55%) and temporal lobes (12/40, 30%). In cases with negative MRI results (13/13, 100%), positron emission tomography/computed tomography (PET-CT) scans revealed hypometabolic lesions. Fused MRI/PET-CT images demonstrated lesion reduction in 40.74% (11/27) of cases compared with PET-CT alone, while 59.26% (16/27) yielded results consistent with PET-CT findings. FCD type II was identified in 26 cases, and FCD type I in 13 cases. At the last follow-up, 38 patients were prescribed an average of 1.27 ± 1.05 anti-seizure medications (ASMs), with two patients discontinuing treatment. After a postoperative follow-up period of 23.50 months, 75% (30/40) of patients achieved Engel class I outcome. Transcriptomic sequencing and qRT-PCR analysis identified several genes primarily associated with cilia, including CFAP47, CFAP126, JHY, RSPH4A, and SPAG1. SIGNIFICANCE: This study highlights focal to bilateral tonic-clonic seizures as the most common seizure type in patients with DRE due to FCD. Surgical intervention primarily targeted lesions in the frontal and temporal lobes. Patients with FCD-related DRE showed a promising prognosis for seizure control post-surgery. The identified genes, including CFAP47, CFAP126, JHY, RSPH4A, and SPAG1, could serve as potential biomarkers for FCD. PLAIN LANGUAGE SUMMARY: This study aimed to comprehensively evaluate the clinical data of individuals affected by focal cortical dysplasia and analyze transcriptomic data from brain tissues. We found that focal to bilateral tonic-clonic seizures were the most prevalent seizure type in patients with drug-resistant epilepsy. In cases treated surgically, the frontal and temporal lobes were the primary sites of the lesions. Moreover, patients with focal cortical dysplasia-induced drug-resistant epilepsy exhibited a favorable prognosis for seizure control after surgery. CFAP47, CFAP126, JHY, RSPH4A, and SPAG1 have emerged as potential pathogenic genes for the development of focal cortical dysplasia.
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Epilepsia Refractaria , Malformaciones del Desarrollo Cortical , Humanos , Femenino , Masculino , Niño , Malformaciones del Desarrollo Cortical/genética , Malformaciones del Desarrollo Cortical/complicaciones , Epilepsia Refractaria/genética , Epilepsia Refractaria/cirugía , Estudios Retrospectivos , Preescolar , Imagen por Resonancia Magnética , Adolescente , Tomografía Computarizada por Tomografía de Emisión de Positrones , Epilepsia/genética , Displasia Cortical FocalRESUMEN
Pseudorabies virus (PRV) is a neurotropic virus, which infects a wide range of mammals. The activity of PRV is gradually suppressed in hosts that have tolerated the primary infection. Increased glucocorticoid levels resulting from stressful stimuli overcome repression of PRV activity. However, the host cell mechanism involved in the activation processes under stressful conditions remains unclear. In this study, infection of rat PC-12 pheochromocytoma cells with neuronal properties using PRV at a multiplicity of infection (MOI) = 1 for 24 h made the activity of PRV be the relatively repressed state, and then incubation with 0.5 µM of the corticosteroid dexamethasone (DEX) for 4 h overcomes the relative repression of PRV activity. RNA-seq deep sequencing and bioinformatics analyses revealed different microRNA and mRNA profiles of PC-12 cells with/without PRV and/or DEX treatment. qRT-PCR and western blot analyses confirmed the negative regulatory relationship of miRNA-194-5p and its target heparin-binding EGF-like growth factor (Hbegf); a dual-luciferase reporter assay revealed that Hbegf is directly targeted by miRNA-194-5p. Further, miRNA-194-5p mock transfection contributed to PRV activation, Hbegf was downregulated in DEX-treated PRV infection cells, and Hbegf overexpression contributed to returning activated PRV to the repression state. Moreover, miRNA-194-5p overexpression resulted in reduced levels of HBEGF, c-JUN, and p-EGFR, whereas Hbegf overexpression suppressed the reduction caused by miRNA-194-5p overexpression. Overall, this study is the first to report that changes in the miR-194-5p-HBEGF/EGFR pathway in neurons are involved in DEX-induced activation of PRV, laying a foundation for the clinical prevention of stress-induced PRV activation.
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Neoplasias de las Glándulas Suprarrenales , Herpesvirus Suido 1 , MicroARNs , Feocromocitoma , Seudorrabia , Enfermedades de los Roedores , Ratas , Animales , Herpesvirus Suido 1/metabolismo , Factor de Crecimiento Similar a EGF de Unión a Heparina/metabolismo , Feocromocitoma/veterinaria , MicroARNs/genética , MicroARNs/metabolismo , Receptores ErbB/metabolismo , Neoplasias de las Glándulas Suprarrenales/veterinaria , Dexametasona/farmacología , MamíferosRESUMEN
Pseudorabies virus (PRV) causes viral encephalitis, a devastating disease with high mortality worldwide. Curcumin (CUR) can reduce inflammatory damage by altering the phenotype of microglia; however, whether and how these changes mediate resistance to PRV-induced encephalitis is still unclear. In this study, BV2 cells were infected with/without PRV for 24 h and further treated with/without CUR for 24 h. The results indicated that CUR promoted the polarization of PRV-infected BV2 cells from the M1 phenotype to the M2 phenotype and reversed PRV-induced mitochondrial dysfunction. Furthermore, M1 BV2 cell secretions induced signalling pathways leading to apoptosis in PC-12 neuronal cells, and this effect was abrogated by the secretions of M2 BV2 cells. RNA sequencing and bioinformatics analysis predicted that this phenotypic shift may be due to changes in energy metabolism. Furthermore, Western blot analysis showed that CUR inhibited the increase in AMP-activated protein kinase (AMPK) phosphorylation, glycolysis, and triacylglycerol synthesis and the reduction in oxidative phosphorylation induced by PRV infection. Moreover, the ATP levels in M2 BV2 cells were higher than those in M1 cells. Furthermore, CUR prevented the increase in mortality, elevated body temperature, slowed growth, nervous system excitation, brain tissue congestion, vascular cuffing, and other symptoms of PRV-induced encephalitis in vivo. Thus, this study demonstrated that CUR protected against PRV-induced viral encephalitis by switching the phenotype of BV2 cells, thereby protecting neurons from inflammatory injury, and this effect was mediated by improving mitochondrial function and the AMPK/NF-κB p65-energy metabolism-related pathway.
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Curcumina , Encefalitis Viral , Encefalitis , Herpesvirus Suido 1 , Seudorrabia , Animales , Curcumina/efectos adversos , Curcumina/metabolismo , Proteínas Quinasas Activadas por AMP/metabolismo , Proteínas Quinasas Activadas por AMP/farmacología , Microglía/metabolismo , Encefalitis/inducido químicamente , Encefalitis/metabolismo , Encefalitis/veterinaria , Fenotipo , Encefalitis Viral/metabolismo , Encefalitis Viral/veterinariaRESUMEN
Background: Vesicouterine fistula (VUF) is a rare complication after cesarean section. It is challenging to diagnose VUF correctly. Case presentation: A 34-year-old woman complained of recurrent hematuria and urinary tract infection for more than 4 years after cesarean delivery, mostly during menstruation, without vaginal leakage and with a normal menstrual cycle. Conventional transabdominal ultrasound showed no abnormal findings in bilateral kidneys and ureters, bladder and uterus, and transvaginal ultrasound showed that the scar at the lower part of the anterior uterine wall was closely adhered to the posterior wall of the bladder. Considering that the patient had hematuria but no vaginal leakage, we assumed that the fistula was flowing unidirectionally from the uterine cavity to the bladder cavity. Therefore, we chose to inject SonoVue (ultrasound contrast agent) into the uterine cavity rather than into the bladder. After intrauterine injection of SonoVue, the ultrasound contrast agent was seen flowing from the uterine cavity into the bladder cavity through the fistula, showing a hyperechoic fistula between the posterior wall of the bladder and the uterine wall, confirming the diagnosis of VUF. The accuracy of this diagnosis was then further confirmed by both MRI and cystoscopy. Conclusions: Trans-intrauterine CEUS provides a new effective imaging method for the diagnosis of VUF, especially for patients with fistulas that flow unidirectionally from the uterine cavity.
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Aim: Ovarian serous surface papillary borderline tumor (OSSPBT) is very rare. Combined with clinical and pathological features, we aim to investigate the multimodal ultrasound features of OSSPBT. Patients and Methods: There were only 18 patients diagnosed with OSSPBT among the 142 patients who were diagnosed with borderline serous ovarian tumor by pathology from June 2008 to December 2020 in our hospital. Their clinical data, conventional ultrasound, two-dimensional contrast-enhanced ultrasound (2D-CEUS), three-dimensional contrast-enhanced ultrasound (3D-CEUS) characteristics, pathology, and prognosis were retrospectively analyzed. Results: The 18 patients had no specific clinical symptoms. Multiple implantable nodules were found in 8 patients (44.4%), ascites in 13 patients (72.2%), and elevated carbohydrate antigen 125 (CA125) in 15 patients (83.3%). After excluding 2 misdiagnosed patients from 18 patients, 26 tumors in 16 patients (6 unilateral and 10 bilateral) were studied. Conventional ultrasound findings of OSSPBT showed that large solid masses around normal ovary without capsule, and numerous small dense anechoic areas were observed in the parenchyma of the lesion, with strong speckle echo ("blizzard" sign) of varying degrees. The 2D-CEUS and 3D-CEUS showed a normal ovary in the center surrounded by a radial blood supply of OSSPBT with thick and irregular branches. Histopathologically, the papillary fibrous stalk of OSSPBT had a large number of sand bodies and tortuous dilated microvessels. All patients had no recurrence after surgery, and two of them delivered successfully through assisted reproductive technology. Conclusion: OSSPBT has a good prognosis. Its conventional ultrasound is characterized by irregular solid masses surrounding normal ovaries and a large number of "blizzard" signs. It showed low enhancement of eccentricity with irregular radial branches centered on the ovary by CEUS.
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Swine hepatitis E (swine HE) is a new type of zoonotic infectious disease caused by the swine hepatitis E virus (swine HEV). Open reading frame 3 (ORF3) is an important virulent protein of swine HEV, but its function still is mainly unclear. In this study, we generated adenoviruses ADV4-ORF3 and ADV4 negative control (ADV4-NC), which successfully mediated overexpression of enhanced green fluorescent protein (EGFP)-ORF3 and EGFP, respectively, in HepG2 cells. High-throughput sequencing was used to screen for differentially expressed long non-coding RNAs (lncRNAs) and messenger RNAs (mRNAs). The cis-target genes of lncRNAs were predicted, functional enrichment (Gene Ontology [GO] and Kyoto Encyclopedia of Genes and Genomes [KEGG]) was performed, and 12 lncRNAs with statistically significant different expressions (p ≤ 0.05 and q ≤ 1) were selected for further quantitative real-time reverse transcription (qRT-PCR) validation. In HepG2 cells, we identified 62 significantly differentially expressed genes (DEGs) (6,564 transcripts) and 319 lncRNAs (124 known lncRNAs and 195 novel lncRNAs) that were affected by ORF3, which were involved in systemic lupus erythematosus, Staphylococcus aureus infection, signaling pathways pluripotency regulation of stem cells, the peroxisome proliferator-activated receptor (PPAR) signaling pathway, and platinum drug resistance pathways. Cis-target gene prediction identified 45 lncRNAs corresponding to candidate mRNAs, among which eight were validated by qRT-PCR: LINC02476 (two transcripts), RAP2C-AS1, AC016526, AL139099, and ZNF337-AS1 (3 transcripts). Our results revealed that the lncRNA profile in host cells affected by ORF3, swine HEV ORF3, might affect the pentose and glucuronate interconversions and mediate the formation of obstructive jaundice by influencing bile secretion, which will help to determine the function of ORF3 and the infection mechanism and treatment of swine HE.
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OBJECTIVE: To explore the genetic basis for three children with Menkes disease. METHODS: The patients were subjected to next-generation sequencing (NGS) to detect potential variants of the ATP7A gene. Suspected variants were verified by Sanger sequencing of their family members and 200 healthy individuals. Multiplex ligation-dependent probe amplification (MLPA) was also carried out to detect potential deletions in their family members and 20 healthy individuals. RESULTS: Variants of the ATP7A gene were detected in all of the three families, including a novel c.1465A>T nonsense variant in family 1, a novel c.3039_3043del frame-shifting variant in family 2, and deletion of exons 3 to 23 in family 3, which was reported previously. Based on the standards and guidelines of American College of Medical Genetics and Genomics, the c.1465A>T and c.3039_3043del variants of ATP7A gene were predicted to be likely pathogenic (PVS1+PM2). CONCLUSION: Variants of the ATP7A gene may underlay the Menkes disease in the three children. Above findings have facilitated clinical diagnosis and enriched the spectrum of genetic variants of Menkes disease.
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ATPasas Transportadoras de Cobre/genética , Síndrome del Pelo Ensortijado , Estudios de Casos y Controles , Niño , Exones , Salud de la Familia , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Síndrome del Pelo Ensortijado/genética , Mutación , LinajeRESUMEN
Pseudorabies virus (PRV) infection can elicit nervous system disorders. Curcumin has been reported to have neuroprotective effects. However, whether curcumin can protect neurons against PRV infection and the underlying mechanisms remain unclear. In the present study, for the first time, the protective effects of curcumin against PRV-induced oxidative stress, apoptosis, and mitochondrial dysfunction in rat hippocampal neurons and the brain-derived neurotrophic factor (BDNF)/tropomyosin-related kinase B (TrkB) pathway were investigated. Results indicated that PRV with a titer of 3.06 × 106 TCID50 (50% tissue culture infective dose) induced oxidative damage of hippocampal neurons 2 h post-infection and that 10 µM curcumin improved the viability of PRV-infected hippocampal neurons. Blocking the BDNF/TrkB pathway reversed the neuroprotective effects of curcumin, which were imparted by decreasing the PRV-induced upregulation of nitric oxide synthase expression, repressing the PRV-activated mitochondrial apoptotic pathway, and mitochondrial dysfunction. To conclude, curcumin exhibited a neuroprotective role against PRV infection by upregulating the BDNF/TrkB pathway. This study provides insight into the anti-PRV neuroprotective application of curcumin and the underlying mechanism in the prophylaxis and treatment of neurological disorders caused by PRV infection.