RESUMEN
Sarcoidosis is an inflammatory disease characterised by non-caseating granulomas that can affect any organ, although lung involvement is the most common. It is rare to find sarcoidosis isolated to extrapulmonary organs. We describe a case of extrapulmonary sarcoidosis with involvement of the liver in a man in his late 40s. His initial clinical history and investigations were more consistent with a diagnosis of lymphoma until a liver biopsy was performed revealing non-caseating granulomas more suggestive of a diagnosis of sarcoidosis. This patient had a history of young-onset ischaemic heart disease (IHD). We discuss the possible links between sarcoidosis, an inflammatory condition, and IHD, as well as the challenges to treating such patients with concurrent metabolic syndrome. This case also highlights the heterogeneous nature of sarcoidosis, with the diagnosis being important as prompt treatment can prevent complications of end-stage liver disease, including portal hypertension and cirrhosis.
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Hepatopatías , Linfoma , Sarcoidosis , Humanos , Masculino , Sarcoidosis/diagnóstico , Sarcoidosis/patología , Diagnóstico Diferencial , Hepatopatías/diagnóstico , Hepatopatías/patología , Linfoma/diagnóstico , Linfoma/patología , Hígado/patología , Hígado/diagnóstico por imagen , Adulto , Biopsia , Persona de Mediana EdadRESUMEN
Hepatosplenic candidiasis (HSC) is a rare type of candidiasis that can occur in patients with hematologic malignancies, hematopoietic stem cell transplantation. At present, there is still a lack of studies on HSC in patients with hematologic disorders. Based on The Chinese Guidelines for the Diagnosis and Treatment of Invasive Fungal Disease in Patients with Hematological Disorders and Cancers (the 6th revision), We retrospectively analyzed the clinical characteristics and prognosis of patients with HSC treated in Peking University Institute of Hematology from 2008 to 2022. Finally, eighteen patients were included, with 1 (5.6%) proven, 2 (11.1%) probable, and 15 (83.3%) possible HSC. Among them, 3 (16.7%) patients occurred after haploid hematopoietic stem cell transplantation and 15 (83.3%) patients occurred after chemotherapy. 6 (33.3%) patients had positive blood cultures, including 4 cases of Candida tropicalis and 2 cases of Candida albicans. At 4 weeks of antifungal therapy, 10 (58.8%) patients achieved partial response (PR), At 8 weeks, 1 (6.3%) patients achieved complete response and 10 (62.5%) patients achieved PR. At 6 months after diagnosis, 3 (16.7%) patients died of hematopoietic recurrence, and none of them died of HSC. As a rare fungal infection disease, HSC has a low positive rate of microbiological and histological examinations, a persistent treat cycle, and has difficulty in remission, reminding us of the need for vigilance in patients with hematopoietic disorders and persistent fever.
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Candidiasis , Enfermedades del Bazo , Humanos , Estudios Retrospectivos , Pronóstico , Masculino , Femenino , Persona de Mediana Edad , Candidiasis/diagnóstico , Adulto , Adulto Joven , Enfermedades del Bazo/diagnóstico , Enfermedades del Bazo/microbiología , Enfermedades del Bazo/etiología , Adolescente , Anciano , Trasplante de Células Madre Hematopoyéticas , Enfermedades Hematológicas/complicaciones , Hepatopatías/microbiología , Hepatopatías/diagnósticoRESUMEN
Fontan surgery is vital for infants born with a single-ventricle heart. This intervention establishes a new blood flow circuit bypassing the single ventricle, thereby the separating pulmonary and systemic circulation to preserve single ventricular function. However, it carries risks of hepatic complications, collectively termed Fontan-associated liver disease (FALD), characterized by progressive hepatic congestion and fibrosis potentially leading to an equivalent of cirrhosis. Diagnosis and staging of FALD are complex, requiring multidisciplinary management. In advanced FALD, consideration is given to heart transplantation alone or combined heart-liver transplantation, underscoring the importance of an integrated approach to optimize care for these increasingly more common patients.
La chirurgie de Fontan est vitale pour les nouveau-nés naissant avec un cÅur univentriculaire. Cette intervention crée un nouveau circuit sanguin palliant l'absence de ventricule sous-pulmonaire en connectant les veines caves directement aux artères pulmonaires. Elle permet de séparer les circulations pulmonaire et systémique et de préserver la fonction du ventricule unique. Cela expose néanmoins les patients à des complications à moyen et long terme, parmi lesquelles l'atteinte hépatique, nommée Fontan-Associated Liver Disease (FALD), se caractérisant par une congestion et une fibrose hépatiques progressives pouvant conduire à l'équivalent d'une cirrhose et à ses complications. Son diagnostic ainsi que l'évaluation de sa sévérité impliquent différents éléments biologiques, radiologiques et histopathologiques ainsi qu' une expertise multidisciplinaire. Lors de FALD avancée, la transplantation cardiaque seule ou combinée cÅur-foie est discutée, au cas par cas.
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Procedimiento de Fontan , Hepatopatías , Humanos , Hepatopatías/diagnóstico , Hepatopatías/etiología , Hepatopatías/terapia , Procedimiento de Fontan/efectos adversos , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/complicaciones , Trasplante de Hígado/métodos , LactanteRESUMEN
A combined model was developed using contrast-enhanced CT-based radiomics features and clinical characteristics to predict liver fibrosis stages in patients with chronic liver disease (CLD). We retrospectively analyzed multiphase CT scans and biopsy-confirmed liver fibrosis. 160 CLD patients were randomly divided into 7:3 training/validation ratio. Clinical laboratory indicators associated with liver fibrosis were identified using Spearman's correlation and multivariate logistic regression correlation. Radiomic features were extracted after segmenting the entire liver from multiphase CT images. Feature dimensionality reduction was performed using RF-RFE, LASSO, and mRMR methods. Six radiomics-based models were developed in the training cohort of 112 patients. Internal validation was conducted on 48 randomly assigned patients. Receptor Operating Characteristic (ROC) curves and confusion matrices were constructed to evaluate model performance. The radiomics model exhibited robust performance, with AUC values of 0.810 to 1.000 for significant fibrosis, advanced fibrosis, and cirrhosis. The integrated clinical-radiomics model had superior diagnostic efficacy in the validation cohort, with AUC values of 0.836 to 0.997. Moreover, these models outperformed established biomarkers such as the aspartate aminotransferase to platelet ratio index (APRI) and the fibrosis 4 score (FIB-4), as well as the gamma glutamyl transpeptidase to platelet ratio (GPR), in predicting the fibrotic stages. The clinical-radiomics model holds considerable promise as a non-invasive diagnostic tool for the assessment and staging of liver fibrosis in the patients with CLD, potentially leading to better patient management and outcomes.
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Biomarcadores , Cirrosis Hepática , Tomografía Computarizada por Rayos X , Humanos , Cirrosis Hepática/diagnóstico por imagen , Cirrosis Hepática/patología , Cirrosis Hepática/diagnóstico , Masculino , Femenino , Tomografía Computarizada por Rayos X/métodos , Persona de Mediana Edad , Estudios Retrospectivos , Adulto , Enfermedad Crónica , Curva ROC , Anciano , Hígado/patología , Hígado/diagnóstico por imagen , Hepatopatías/diagnóstico por imagen , Hepatopatías/patología , Hepatopatías/diagnóstico , RadiómicaRESUMEN
RATIONALE: Radiation-induced liver disease (RILD) is an established complication of hepatic irradiation that is typically reported in patients receiving high-dose radiotherapy for hepatocellular carcinoma or liver metastases. However, RILD can also occur after unintentional low-dose liver exposure during radiotherapy for other gastrointestinal malignancies when careful precautions are not taken. PATIENT CONCERNS: We report the case of a 44-year-old woman with gastric mucosa-associated lymphoid tissue lymphoma who underwent salvage radiotherapy administered to the entire stomach. One month after completing this radiotherapy, computed tomography and magnetic resonance imaging of the patient's abdomen revealed a 4â cm lesion in the left lateral liver segment, suggestive of metastasis. DIAGNOSES: An ultrasound-guided biopsy was performed, and the histopathological findings were consistent with those of RILD. INTERVENTIONS: Conservative management was pursued with close monitoring of liver function tests. OUTCOMES: The patient's imaging findings and liver enzyme levels normalized approximately 3 months after the initial diagnosis. LESSONS: This case highlights the importance of considering RILD in the differential diagnosis of new hepatic lesions detected after radiotherapy, even in patients with low-dose liver exposure within generally acceptable limits. Careful correlation with the radiotherapy plan is crucial to avoid misdiagnosing RILD as metastatic disease and to guide appropriate management.
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Neoplasias Hepáticas , Linfoma de Células B de la Zona Marginal , Traumatismos por Radiación , Humanos , Femenino , Adulto , Neoplasias Hepáticas/radioterapia , Neoplasias Hepáticas/secundario , Traumatismos por Radiación/diagnóstico , Traumatismos por Radiación/etiología , Linfoma de Células B de la Zona Marginal/radioterapia , Linfoma de Células B de la Zona Marginal/patología , Diagnóstico Diferencial , Neoplasias Gástricas/radioterapia , Neoplasias Gástricas/patología , Hepatopatías/etiología , Hepatopatías/patología , Hepatopatías/diagnóstico , Hígado/patología , Hígado/diagnóstico por imagen , Dosificación RadioterapéuticaRESUMEN
Bleeding events are feared complications in patients with advanced liver diseases and are associated with morbidity and mortality. In this context, gastrointestinal bleeding, particularly upper gastrointestinal bleeding, has a special clinical importance. In addition to endoscopic measures for hemostasis, reducing portal pressure in particular is a key component of treatment. Although the standard coagulation parameters are often altered in patients with liver diseases, optimizing coagulation plays a secondary role. Typically, a bundle of measures are employed in patients with portal hypertensive bleeding, which nowadays in most cases can halt the bleeding and stabilize the situation. The measures include endoscopy, antibiotic treatment, vasopressor treatment and, if necessary, shunt placement (transjugular intrahepatic portosystemic shunt).
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Hemorragia Gastrointestinal , Hipertensión Portal , Derivación Portosistémica Intrahepática Transyugular , Humanos , Hemorragia Gastrointestinal/terapia , Hemorragia Gastrointestinal/etiología , Hemorragia Gastrointestinal/diagnóstico , Hipertensión Portal/diagnóstico , Hipertensión Portal/terapia , Hipertensión Portal/etiología , Terapia Combinada , Hepatopatías/diagnóstico , Hepatopatías/terapia , Vasoconstrictores/uso terapéutico , Antibacterianos/uso terapéutico , Cirrosis Hepática/complicaciones , Cirrosis Hepática/diagnóstico , Várices Esofágicas y Gástricas/terapia , Várices Esofágicas y Gástricas/diagnósticoRESUMEN
AIMS: This review explores the mechanisms, diagnostic approaches, and management strategies for COVID-19-induced liver injury, with a focus on its impact on patients with pre-existing liver conditions, liver cancer, and those undergoing liver transplantation. MATERIALS AND METHODS: A comprehensive literature review included studies on clinical manifestations of liver injury due to COVID-19. Key areas examined were direct viral effects, drug-induced liver injury, cytokine storms, and impacts on individuals with chronic liver diseases, liver transplants, and the role of vaccination. Data were collected from clinical trials, observational studies, case reports, and review literature. KEY FINDINGS: COVID-19 can cause a spectrum of liver injuries, from mild enzyme elevations to severe hepatic dysfunction. Injury mechanisms include direct viral invasion, immune response alterations, drug toxicity, and hypoxia-reperfusion injury. Patients with chronic liver conditions (such as alcohol-related liver disease, nonalcoholic fatty liver disease, cirrhosis, and hepatocellular carcinoma) face increased risks of severe outcomes. The pandemic has worsened pre-existing liver conditions, disrupted cancer treatments, and complicated liver transplantation. Vaccination remains crucial for reducing severe disease, particularly in chronic liver patients and transplant recipients. Telemedicine has been beneficial in managing patients and reducing cross-infection risks. SIGNIFICANCE: This review discusses the importance of improved diagnostic methods and management strategies for liver injury caused by COVID-19. It emphasizes the need for close monitoring and customized treatment for high-risk groups, advocating for future research to explore long-term effects, novel therapies, and evidence-based approaches to improve liver health during and after the pandemic.
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COVID-19 , Hepatopatías , Trasplante de Hígado , SARS-CoV-2 , Humanos , COVID-19/complicaciones , COVID-19/terapia , COVID-19/diagnóstico , Trasplante de Hígado/efectos adversos , Hepatopatías/etiología , Hepatopatías/diagnóstico , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/etiología , Neoplasias/complicaciones , Neoplasias/terapiaRESUMEN
OBJECTIVE: To explore the incidence of liver function test derangement, the precise patterns of derangement, and their relationship with coronavirus disease-2019 pneumonia severity. METHODS: The retrospective study was conducted at the Dow University Hospital and the Ojha Institute of Chest Diseases, Karachi, and comprised consecutive data from December 16, 2020, to March 16, 2021, of adults of either gender who had nasal swabs positive for coronavirus disease-2019 on real-time reverse transcriptase-polymerase chain reaction. Data regarding patients' demographics, co-morbidities, addictions, laboratory results, and standard information was retrieved from electronic and manual records. The severity of the disease was determined based on World Health Organisation protocols. Data was analysed using SPSS 23. RESULTS: Of the 344 patients, 235(68.3%) were males and 109(31.7%) were females. The overall mean age was 54.58±14.75 years, 187(54.4%) had severe coronavirus disease-2019 pneumonia and 157(45.6%) had non-severe disease at the time of admission. There was a significant prevalence of both mixed and cholestatic patterns of liver function test abnormality among the cases (p=0.046). The presence of a mixed pattern was linked to the disease severity (p<0.05). Advanced age and hypertension were significant risk factors for the development of severe coronavirus disease-2019 pneumonia (p<0.001 and p=0.002). CONCLUSIONS: Liver function test abnormality and coronavirus disease-2019 pneumonia severity were fund to have a significant relationship.
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COVID-19 , Pruebas de Función Hepática , SARS-CoV-2 , Índice de Severidad de la Enfermedad , Humanos , COVID-19/epidemiología , COVID-19/diagnóstico , Masculino , Femenino , Persona de Mediana Edad , Pruebas de Función Hepática/métodos , Estudios Retrospectivos , Adulto , Pakistán/epidemiología , Anciano , Hepatopatías/epidemiología , Hepatopatías/virología , Hepatopatías/diagnósticoRESUMEN
Protein glycosylation is the co- and/or post-translational modification of proteins with oligosaccharides (glycans). This process is not template based and can introduce a heterogeneous set of glycan modifications onto substrate proteins. Glycan structures preserve biomolecular information from the cell, with glycoproteins from different cell types and tissues displaying distinct patterns of glycosylation. Several decades of research have revealed that glycan structures also differ between normal physiology and disease. This suggests that the information stored in glycoproteins and glycans can be utilized for disease diagnosis and monitoring. Methods that enable sensitive and site-specific measurement of protein glycosylation in clinical settings, such as nano-flow liquid chromatography tandem mass spectrometry, are therefore essential. The purpose of this perspective is to discuss recent advances in mass spectrometry and the potential of these advances to facilitate the detection and monitoring of disease-specific glycoprotein glycoforms. Glycoproteomics, the system-wide characterization of glycoprotein identity inclusive of site-specific characterization of carbohydrate modifications on proteins, and glycomics, the characterization of glycan structures, will be discussed in this context. Quantitative measurement of glycopeptide markers via parallel reaction monitoring is highlighted. The development of promising glycopeptide markers for autoimmune disease, liver disease, and liver cancer is discussed. Synthetic glycopeptide standards, ambient ionization mass spectrometry, and consideration of glyco-biomarkers in two- and three-dimensional space within tissue will be critical to the advancement of this field. The authors envision a future in which glycoprotein mass spectrometry workflows will be integrated into clinical settings, to aid in the rapid diagnosis and monitoring of disease.
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Glicoproteínas , Polisacáridos , Proteómica , Humanos , Glicoproteínas/análisis , Glicoproteínas/química , Glicoproteínas/metabolismo , Glicosilación , Proteómica/métodos , Polisacáridos/análisis , Polisacáridos/química , Biomarcadores/análisis , Espectrometría de Masas/métodos , Glicómica/métodos , Glicopéptidos/análisis , Glicopéptidos/química , Procesamiento Proteico-Postraduccional , Espectrometría de Masas en Tándem/métodos , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/metabolismo , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/química , Hepatopatías/diagnóstico , Hepatopatías/metabolismo , Cromatografía Liquida/métodosRESUMEN
BACKGROUND: The concept of positive health (PH) supports an integrated approach for patients by taking into account six dimensions of health. This approach is especially relevant for patients with chronic disorders. Chronic gastrointestinal and hepato-pancreatico-biliary (GI-HPB) disorders are among the top-6 of the most prevalent chronically affected organ systems. The impact of chronic GI-HPB disorders on individuals may be disproportionally high because: (1) The affected organ system frequently contributes to a malnourished state; and (2) persons with chronic GI-HPB disorders are often younger than persons with chronic diseases in other organ systems. AIM: To describe and quantify the dimensions of PH in patients with chronic GI-HPB disorders. METHODS: Prospective, observational questionnaire study performed between 2019 and 2021 in 235 patients with a chronic GI-HPB disorder attending the Outpatient Department of the Maastricht University Medical Center. Validated questionnaires and data from patient files were used to quantify the six dimensions of PH. Internal consistency was tested with McDonald's Omega. Zero-order Pearson correlations and t-tests were used to assess associations and differences. A P value < 0.05 was considered significant. RESULTS: The GI-HPB patients scored significantly worse in all dimensions of PH compared to control data or norm scores from the general population. Regarding quality of life, participation and daily functioning, GI-HPB patients scored in the same range as patients with chronic disorders in other organ systems, but depressive symptoms (in 35%) and malnutrition (in 45%) were more frequent in patients with chronic GI-HPB disorders. Intercorrelation scores between the six dimensions were only very weak to weak, forcing us to quantify each domain separately. CONCLUSION: All six dimensions of PH are impaired in the GI-HPB patients. Malnutrition and depressive symptoms are more prevalent compared to patients with chronic disorders in other organ systems.
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Enfermedades Gastrointestinales , Hepatopatías , Calidad de Vida , Humanos , Femenino , Masculino , Estudios Prospectivos , Persona de Mediana Edad , Anciano , Enfermedad Crónica , Encuestas y Cuestionarios , Enfermedades Gastrointestinales/psicología , Enfermedades Gastrointestinales/diagnóstico , Adulto , Hepatopatías/psicología , Hepatopatías/diagnóstico , Enfermedades de las Vías Biliares/psicología , Enfermedades de las Vías Biliares/diagnóstico , Desnutrición/diagnóstico , Desnutrición/epidemiología , Desnutrición/psicología , Enfermedades Pancreáticas/psicología , Estado de Salud , Anciano de 80 o más AñosRESUMEN
BACKGROUND AND AIM: Clinical evidence for early identification and diagnosis of liver cirrhosis (LC) caused by different types of liver disease is limited. We investigated this topic through a meta-analysis of quantitative metabolomics. METHODS: Four databases were searched until October 31, 2022 for studies comparing metabolite levels between patients with different types of liver disease and control individuals. A random-effects model was applied for the meta-analysis. RESULTS: This study included 55 studies with 8266 clinical participants, covering 348 metabolites. In LC related to drug-induced liver injury (DILI), hepatitis B virus (HBV) infection, and non-alcoholic fatty liver disease (NAFLD), the primary bile acid biosynthesis (taurocholic acid: SMD, 1.08[0.81, 1.35]; P < 0.00001; glycocholic acid: SMD, 1.35[1.07, 1.62]; P < 0.00001; taurochenodeoxycholic acid: SMD, 1.36[0.94, 1.78]; P < 0.00001; glycochenodeoxycholic acid: SMD, 1.49[0.93, 2.06]; P < 0.00001), proline and arginine (l-proline: SMD, 1.06[0.53, 1.58]; P < 0.0001; hydroxyproline: SMD, 0.81[0.30, 1.33]; P = 0.002), and fatty acid biosynthesis (palmitic acid: SMD, 0.44[0.21, 0.67]; P = 0.0002; oleic acid: SMD, 0.46[0.19, 0.73]; P = 0.0008; stearic acid: SMD, 0.37[0.07, 0.68]; P = 0.02) metabolic pathways were significantly altered. CONCLUSION: We identified key biomarkers and metabolic characteristics for distinguishing and identifying LC related to different types of liver disease, providing a new perspective for early diagnosis, disease monitoring, and precise treatment.
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Cirrosis Hepática , Metabolómica , Humanos , Cirrosis Hepática/metabolismo , Cirrosis Hepática/diagnóstico , Metabolómica/métodos , Biomarcadores/análisis , Enfermedad del Hígado Graso no Alcohólico/metabolismo , Enfermedad del Hígado Graso no Alcohólico/diagnóstico , Hepatopatías/diagnóstico , Hepatopatías/metabolismo , Hepatopatías/etiología , PronósticoRESUMEN
Focal liver lesions (FLLs) have become an increasingly common finding on abdominal imaging, especially asymptomatic and incidental liver lesions. Gastroenterologists and hepatologists often see these patients in consultation and make recommendations for management of multiple types of liver lesions, including hepatocellular adenoma, focal nodular hyperplasia, hemangioma, and hepatic cystic lesions including polycystic liver disease. Malignancy is important to consider in the differential diagnosis of FLLs, and healthcare providers must be familiar with the diagnosis and management of FLLs. This American College of Gastroenterology practice guideline uses the best evidence available to make diagnosis and management recommendations for the most common FLLs.
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Adenoma de Células Hepáticas , Quistes , Hiperplasia Nodular Focal , Hemangioma , Hepatopatías , Neoplasias Hepáticas , Humanos , Hiperplasia Nodular Focal/diagnóstico , Hiperplasia Nodular Focal/patología , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/patología , Neoplasias Hepáticas/terapia , Neoplasias Hepáticas/diagnóstico por imagen , Hepatopatías/diagnóstico , Hepatopatías/terapia , Hepatopatías/diagnóstico por imagen , Hepatopatías/patología , Hemangioma/diagnóstico , Hemangioma/terapia , Hemangioma/patología , Hemangioma/diagnóstico por imagen , Quistes/diagnóstico , Quistes/diagnóstico por imagen , Quistes/patología , Adenoma de Células Hepáticas/diagnóstico , Adenoma de Células Hepáticas/patología , Adenoma de Células Hepáticas/terapia , Adenoma de Células Hepáticas/diagnóstico por imagen , Diagnóstico Diferencial , Gastroenterología/normas , Carcinoma Hepatocelular/diagnóstico , Carcinoma Hepatocelular/patología , Carcinoma Hepatocelular/terapia , Carcinoma Hepatocelular/diagnóstico por imagenRESUMEN
In this article we report the case of a man with congenital liver disease who later developed psychotic illness and was diagnosed with schizophrenia. We illustrate how decompensation in liver function was associated with the exacerbation of psychotic symptoms. We discuss differential diagnostic challenges, and the possible overlapping neuropathology in these two conditions that may converge on glutamate/N-methyl-D-aspartate dysfunction. This patient's case underscores the need for further research to elucidate the possible underlying mechanisms linking congenital liver disease and psychosis.
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Trastornos Psicóticos , Humanos , Masculino , Trastornos Psicóticos/diagnóstico , Trastornos Psicóticos/etiología , Diagnóstico Diferencial , Esquizofrenia/complicaciones , Adulto , Antipsicóticos/uso terapéutico , Hepatopatías/diagnóstico , Hepatopatías/complicacionesRESUMEN
Liver diseases are a significant global cause of morbidity and mortality. Liver cirrhosis can result in severe complications such as bleeding, hepatic encephalopathy (HE), and infections. Implementing a clear strategy for intensive care unit (ICU) admission management improves patient outcomes. Hemodynamically significant esophageal/gastric variceal bleeding (E/GVB) and grade 4 HE, when accompanied by the need for renal replacement therapy (RRT), are definitive indications for ICU admission. E/GVB, spontaneous bacterial peritonitis (SBP), and infections with multidrug-resistant organisms (MDRO) require close and stringent critical assessment. Patients with severe hepatorenal syndrome (HRS) or respiratory failure have increased baseline mortality and most likely benefit from early ICU treatment. Rapid identification of sepsis in patients with liver cirrhosis is a crucial criterion for ICU admission. Prioritizing cases based on mortality risk and clinical urgency enables efficient resource utilization and optimizes patient management. In addition, "Liver Units" provide an intermediate care (IMC) level for patients with liver diseases who require close monitoring but do not need immediate intensive care.
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Hemorragia Gastrointestinal , Encefalopatía Hepática , Síndrome Hepatorrenal , Unidades de Cuidados Intensivos , Cirrosis Hepática , Humanos , Cirrosis Hepática/complicaciones , Cirrosis Hepática/mortalidad , Cirrosis Hepática/terapia , Cirrosis Hepática/diagnóstico , Encefalopatía Hepática/terapia , Encefalopatía Hepática/diagnóstico , Encefalopatía Hepática/mortalidad , Síndrome Hepatorrenal/terapia , Síndrome Hepatorrenal/diagnóstico , Síndrome Hepatorrenal/mortalidad , Hemorragia Gastrointestinal/terapia , Hemorragia Gastrointestinal/mortalidad , Hemorragia Gastrointestinal/etiología , Hemorragia Gastrointestinal/diagnóstico , Peritonitis/mortalidad , Peritonitis/diagnóstico , Peritonitis/terapia , Cuidados Críticos , Várices Esofágicas y Gástricas/terapia , Várices Esofágicas y Gástricas/diagnóstico , Várices Esofágicas y Gástricas/mortalidad , Admisión del Paciente , Hepatopatías/terapia , Hepatopatías/mortalidad , Hepatopatías/diagnóstico , Terapia de Reemplazo Renal , Farmacorresistencia Bacteriana Múltiple , Sepsis/terapia , Sepsis/diagnóstico , Sepsis/mortalidad , PronósticoRESUMEN
Liver diseases have a global prevalence of 25%, accounting for 4% of all deaths worldwide, and are associated with a 36% increased risk of fatal and nonfatal cardiovascular events. Metabolic dysfunction-associated steatotic liver disease constitutes the liver expression of metabolic syndrome and represents the primary type of liver disease. Microscopical analysis of biopsies, which allows the evaluation of a small portion of tissue with inferences made to the entire organ, is considered the gold standard for determining the presence of liver diseases. However, potential sampling errors in liver biopsies are conceivable because the obtained tissue represents only a tiny fraction of the entire liver mass and may not accurately reflect the true pathological state. Studies have demonstrated the existence of sampling errors in liver biopsies, particularly concerning the severity of inflammation, degree of fibrosis, and the presence of cirrhosis. Also, clinical studies have shown that histopathological abnormalities are better detected in humans when liver samples are collected from both the right and the left lobes. However, a gap exists in clinical investigation to clarify the role of differences between these lobes in improving the diagnostic and prognostic for liver diseases. Building upon the heterogeneous nature of pathological alterations observed in liver lobes, this perspective review provided recommendations to enhance the precision of diagnosis and prognostic accuracy of liver diseases.
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Hepatopatías , Hígado , Humanos , Hígado/patología , Hepatopatías/patología , Hepatopatías/diagnóstico , Hepatopatías/epidemiología , Biopsia , Pronóstico , Síndrome Metabólico/patología , Síndrome Metabólico/epidemiología , Síndrome Metabólico/diagnóstico , Cirrosis Hepática/patología , Cirrosis Hepática/diagnóstico , Cirrosis Hepática/epidemiología , AnimalesRESUMEN
Physiological determinants of drug dosing (PDODD) are a promising approach for precision dosing. This study investigates the alterations of PDODD in diseases and evaluates a variational autoencoder (VAE) artificial intelligence model for PDODD. The PDODD panel contained 20 biomarkers, and 13 renal, hepatic, diabetes, and cardiac disease status variables. Demographic characteristics, anthropometric measurements (body weight, body surface area, waist circumference), blood (plasma volume, albumin), renal (creatinine, glomerular filtration rate, urine flow, and urine albumin to creatinine ratio), and hepatic (R-value, hepatic steatosis index, drug-induced liver injury index), blood cell (systemic inflammation index, red cell, lymphocyte, neutrophils, and platelet counts) biomarkers, and medical questionnaire responses from the National Health and Nutrition Examination Survey (NHANES) were included. The tabular VAE (TVAE) generative model was implemented with the Synthetic Data Vault Python library. The joint distributions of the generated data vs. test data were compared using graphical univariate, bivariate, and multidimensional projection methods and distribution proximity measures. The PDODD biomarkers related to disease progression were altered as expected in renal, hepatic, diabetes, and cardiac diseases. The continuous PDODD panel variables generated by the TVAE satisfactorily approximated the distribution in the test data. The TVAE-generated distributions of some discrete variables deviated from the test data distribution. The age distribution of TVAE-generated continuous variables was similar to the test data. The TVAE algorithm demonstrated potential as an AI model for continuous PDODD and could be useful for generating virtual populations for clinical trial simulations.
Asunto(s)
Biomarcadores , Cardiopatías , Enfermedades Renales , Humanos , Masculino , Femenino , Persona de Mediana Edad , Biomarcadores/sangre , Adulto , Hepatopatías/sangre , Hepatopatías/diagnóstico , Hepatopatías/metabolismo , Anciano , Enfermedades Metabólicas/diagnóstico , Inteligencia Artificial , Encuestas Nutricionales , Cálculo de Dosificación de Drogas , Modelos BiológicosRESUMEN
Objective: To investigate the clinical and genetic characteristics and predictive role of the severe liver disease phenotype in patients with hepatolenticular degeneration (HLD). Methods: Inpatients with HLD confirmed at Xinhua Hospital affiliated with Shanghai Jiao Tong University School of Medicine from January 1989 to December 2022 were selected as the research subjects. Clinical classification was performed according to the affected organs. Patients with liver disease phenotypes were classified into the liver disease group and further divided into the severe liver disease group and the ordinary liver disease group. The clinical characteristics and genetic variations were compared in each group of patients. The predictive indicators of patients with severe liver disease were analyzed by multiple regression. Statistical analysis was performed using the t-test, Mann-Whitney U test, or χ(2) test according to different data. Results: Of the 159 HLD cases, 142 were in the liver disease group (34 in the severe liver disease group and 108 in the ordinary liver disease group), and 17 were in the encephalopathy group. The median age of onset was statistically significantly different between the liver disease group and the encephalopathy group [12.6 (7.0, 13.3) years versus 16.9 (11.0, 21.5) years, P<0.01]. 156 ATP7B gene mutation sites were found in 83 cases with genetic testing results, of which 54 cases carried the p.Arg778Leu gene mutation (allele frequency 46.2%). Compared with patients with other types of gene mutations (n=65), patients with homozygous p.Arg778Leu mutations (n=18) had lower blood ceruloplasmin and albumin levels, a higher prognostic index, Child-Pugh score, an international normalized ratio, and prothrombin time (P<0.05). Hemolytic anemia, corneal K-F ring, homozygous p.Arg778Leu mutation, and multiple laboratory indexes in the severe liver disease group were statistically significantly different from those in the ordinary liver disease group (P<0.05). Multivariate logistic regression analysis showed that the predictive factors for severe liver disease were homozygous p.Arg778Leu mutation, total bilirubin, and bile acids (ORs=16.512, 1.022, 1.021, 95% CI: 1.204-226.425, 1.005-1.039, and 1.006-1.037, respectively, P<0.05). The drawn ROC curve demonstrated a cutoff value of 0.215 3, an AUC of 0.953 2, and sensitivity and specificity of 90.91% and 92.42%, respectively. Conclusion: Liver disease phenotypes are common in HLD patients and have an early onset. Total bilirubin, bile acids, and the homozygous p.Arg778Leu mutation of ATP7B is related to the severity of liver disease in HLD patients, which aids in predicting the occurrence and risk of severe liver disease.