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1.
Medicine (Baltimore) ; 102(32): e34549, 2023 Aug 11.
Article in English | MEDLINE | ID: mdl-37565896

ABSTRACT

RATIONALE: Acute mesenteric ischemia due to superior mesenteric vein (SMV) thrombosis is a rare yet potentially life-threatening emergency. Our case report explores this condition in the context of a patient with liver cirrhosis due to Wilson disease. We specifically highlight the complex derangement of the coagulative balance in liver cirrhosis. PATIENT CONCERNS: A 34-year-old female with Wilson disease-related cirrhosis presented with intractable abdominal pain, nausea, and vomiting that showed no response to antispasmodic medication. DIAGNOSES: A contrast-enhanced abdominal computed tomography scan and Doppler ultrasound confirmed an intraluminal filling defect in the SMV, leading to the diagnosis of SMV thrombosis. INTERVENTIONS: Prompt anticoagulation, intravenous fluids, and an antibiotic were initiated. Surgical consultation recommended conservative therapy with close monitoring. OUTCOMES: Over the following 2 days, the patient's condition improved considerably, with almost complete resolution of her symptoms. Genetic testing identified a 4G/4G homozygous genotype of the plasminogen activator inhibitor 1 gene, associated with a higher risk of thrombosis in the vessels of internal organs. After 2 months of sustained anticoagulant therapy, a follow-up contrast-enhanced computed tomography scan revealed near-complete recanalization of the SMV, and the patient remained symptom-free. LESSONS: This case underscores the importance of early detection and treatment of acute mesenteric ischemia in patients with liver cirrhosis, as well as the potential role of genetic factors in thrombosis.


Subject(s)
Hepatolenticular Degeneration , Mesenteric Ischemia , Thrombosis , Venous Thrombosis , Humans , Female , Adult , Mesenteric Ischemia/complications , Mesenteric Ischemia/drug therapy , Venous Thrombosis/complications , Venous Thrombosis/diagnosis , Hepatolenticular Degeneration/complications , Mesenteric Veins/diagnostic imaging , Treatment Outcome , Thrombosis/complications , Liver Cirrhosis/complications
2.
Biol Lett ; 19(6): 20230090, 2023 06.
Article in English | MEDLINE | ID: mdl-37311549

ABSTRACT

The 2022 highly pathogenic avian influenza (HPAI) outbreak that occurred in many European countries affected several seabird species. Among them, northern gannets (Morus bassanus) were particularly impacted. We conducted aerial surveys in waters around the two largest gannet colonies in southwest Ireland (Little Skellig and Bull Rock, together representing 87% of the national population) in September 2022. During surveys dead and alive northern gannets were counted on survey effort. A total of 184 dead gannets were recorded on survey effort, representing 3.74% of the total number of gannets recorded. We estimated the abundance of dead gannets in the surveyed area at 1526 (95% confidence intervals (CIs) 1450-1605) individuals. The percentage of dead gannets observed was used to estimate a minimum local population mortality of 3126 (95% CIs 2993-3260) individuals across both colonies. Aerial surveys provided key information on gannet mortality from HPAI at sea. The study provides the first estimate of gannet mortality in the two largest gannetries in Ireland.


Subject(s)
Influenza in Birds , Morus , Humans , Animals , Cattle , Male , Ireland/epidemiology , Influenza in Birds/epidemiology , Pandemics , Birds
3.
World J Clin Cases ; 10(25): 9087-9095, 2022 Sep 06.
Article in English | MEDLINE | ID: mdl-36157651

ABSTRACT

BACKGROUND: Paraneoplastic syndromes remain poorly understood and manifest as multifaceted clinical symptoms, making their diagnosis difficult. Cholestasis can be observed in various malignancies. In rare cases, it can be a paraneoplastic manifestation, most often associated with renal cell carcinoma and other urogenital tumors, as well as with bronchial carcinoma. The classical form of Stauffer syndrome presents with a reversible anicteric increase of cholestatic liver function tests, thrombocytosis, coagulation impairment, and hepatosplenomegaly, without any proven hepatobiliary obstruction or metastases. CASE SUMMARY: We report a patient who presented with elevated liver enzymes, cholestatic jaundice, weight loss and pruritus, in whom renal cell carcinoma was incidentally found during hospitalization. Clinical, laboratory, and imaging tests excluded primary hepatic cause or metastatic disease. Jaundice and laboratory abnormalities reversed completely a few months after nephrectomy. This case is an example of the many sides of renal cell carcinoma, and it focuses the clinicians' attention on the differential diagnosis of cholestasis, including Stauffer syndrome and its variant. Thus, the correct diagnosis can be straightforward and the associated malignancy can be treated promptly. All cases should be followed up with a multidisciplinary team. Interleukin (IL)-6 is proposed to contribute to the pathophysiology of the condition. The probable mechanism is proinflammatory activity by the IL-6 cytokine, causing elevation of C-reactive protein and haptoglobin and inhibition of hepatobiliary transporter gene expression, impairing biliary outflow. CONCLUSION: Despite being rare, Stauffer syndrome is a potentially reversible paraneoplastic condition, when the primary cause is treatable. This syndrome should be considered by clinicians because of the remediable liver disturbance, after successful treatment of the underlying malignancy.

4.
Anticancer Res ; 33(10): 4531-5, 2013 Oct.
Article in English | MEDLINE | ID: mdl-24123026

ABSTRACT

AIM: Application of immunotherapy to a patient with untreatable hepatocellular carcinoma. CASE REPORT: The patient had a tumor of 60 mm in the liver. The pathological anatomic diagnosis was adenoma. However, after surgery of the tumor seven new lesions arose, showing that the original tumor had been a hepatocellular carcinoma. In addition, when hepatocellular adenomas grow to a size of more than 6-8 cm, they are considered cancerous and thus become a risk for hepatocellular carcinoma. The patient was treated with interleukin-2, Bacillus Calmette Guerin, and melatonin. RESULTS: During treatment, the alpha-fetoprotein levels in blood fell from 5,000 IU/ml to zero, at which level it remained during the follow-up period of two years. No tumor was detectable on MRI and CT. Six years after the diagnosis of untreatable hepatocellular carcinoma, the patient remains in a good condition. CONCLUSION: In this case, combined immunomodulating therapy was effective. For patients with metastasized tumors of the liver who are not suitable for conventional therapy, immunomodulation may delay tumor progression, induce tumor regression, or even be curative in some patients. Immunotherapeutic approaches combined with conventional methods for hepatocellular carcinoma treatment may be able to improve therapeutic efficacy.


Subject(s)
BCG Vaccine/therapeutic use , Carcinoma, Hepatocellular/pathology , Immunologic Factors/therapeutic use , Interleukin-2/therapeutic use , Liver Neoplasms/pathology , Melatonin/therapeutic use , Neoplasm Recurrence, Local , Aged , BCG Vaccine/immunology , Carcinoma, Hepatocellular/blood , Carcinoma, Hepatocellular/therapy , Female , Humans , Immunotherapy , Liver Neoplasms/blood , Liver Neoplasms/therapy , Treatment Outcome , Tumor Burden , alpha-Fetoproteins/metabolism
5.
Bioinformatics ; 21(3): 418-20, 2005 Feb 01.
Article in English | MEDLINE | ID: mdl-15374875

ABSTRACT

UNLABELLED: We have created PhenomicDB, a multi-species genotype/phenotype database by merging public genotype/phenotype data from a wide range of model organisms and Homo sapiens. Until now these data were available in distinct organism-specific databases (e.g. WormBase, OMIM, FlyBase and MGI). We compiled this wealth of data into a single integrated resource by coarse-grained semantic mapping of the phenotypic data fields, by including common gene indices (NCBI Gene), and by the use of associated orthology relationships. With its use-case-oriented user interface, PhenomicDB allows scientists to compare and browse known phenotypes for a given gene or a set of genes from different organisms simultaneously. AVAILABILITY: PhenomicDB has been implemented at Schering AG as described below. A PhenomicDB implementation differing in some technical details has been set up for the public at Metalife AG http://www.phenomicDB.de SUPPLEMENTARY INFORMATION: database model, semantic mapping table.


Subject(s)
Databases, Genetic , Documentation/methods , Gene Expression Profiling/methods , Genomics/methods , Information Dissemination/methods , Information Storage and Retrieval/methods , Animals , Genotype , Humans , Phenotype , Species Specificity
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