Thrombophilia and abdominal vessel thrombosis in a Greek University hospital: A five year experience

Thrombophilia, either congenital or acquired, has foremost consequences in the abdominal vessels. We review here the cases of patients admitted with abdominal vessel thrombosis over a five-year period. Our data focused on gender and age at diagnosis, site of thrombosis, previous thromboembolic events, underlying conditions, and family history. Investigations included measurement of protein C, protein S, activated PC resistance, and antithrombin, and screening for factor V Leiden, prothrombin G20210A, the C677T variant of the methylenetetrahydrofolate reductase gene, and V617F JAK2 mutation, r lupus anticoagulant, antiphospholipid antibodies and paroxysmal nocturnal hemospherinouria, and also serum folate, vitamin 12, and total homocysteine concentrations. Twenty-nine patients were admitted and 18 of their family members also underwent the same thrombophilia investigations. Eighteen patients (62.1%) presented with portal vein thrombosis (PVT), five patients (17.2%) with mesenteric vein thrombosis (MVT), four patients (13.8%) with splenic vein thrombosis (SVT), and two (6.9%) patients with hepatic vein thrombosis (HVT). There was a high incidence of congenital thrombophilia (37.9%), acquired thrombophilic conditions (27.6%), or both (20.7%). Sixteen of 18 patients with PVT, four of five patients with MVT, all four patients with SVT, and one of two patients with HVT had one or more thrombophilic risk factors. In 13.8% of the patients no underlying condition was identified. We concluded that thrombophilia may have major implications in the pathogenesis of abdominal vessel thrombosis in adult life, and a thorough thrombophilia investigation should be performed in all these patients

A rare case of intussusception leading to the diagnosis of acquired immune deficiency syndrome: a case report

<p>Abstract</p> <p>Introduction</p> <p>Although a common cause of intestinal obstruction in children, intussusception is a rare event in the adult population living in temperate regions. It has long been known that various acquired immune deficiency syndrome related conditions of the bowel such as lymphoma, lymphoid hyperplasia, cytomegalovirus colitis and Kaposi's sarcoma can lead to intussusception. The diagnosis is particularly difficult in this population of patients due to the non-specific nature of the symptoms as well as the depressed immune response obscuring inflammation or ischemia. Though the reported acquired immune deficiency syndrome associated cases of intussusception refer to patients with known human immunodeficiency virus infection, in our case we present an intestinal intussusception as the first manifestation of human immunodeficiency virus infection.</p> <p>Case presentation</p> <p>A 58-year-old white heterosexual Greek man with a clean medical record and no history of abdominal operation presented to the emergency department with symptoms and signs of bowel obstruction. Plain abdominal radiographs were highly suspicious for intussusception which was eventually confirmed on a computed tomography scan. Due to the patients clean medical record as well as the radiologic diagnosis of intussusception, we promptly undertook further serologic tests for human immunodeficiency virus and eventually established the diagnosis of acquired immune deficiency syndrome. The patient was operated 3 days later and this confirmed the diagnosis of small-bowel invagination due to a 4 cm polypoid growing intraluminal tumor, the pathologic examination of which revealed a diffuse high-grade B cell lymphoblastic lymphoma.</p> <p>Conclusion</p> <p>Human immunodeficiency virus infection may have a silent course and gastrointestinal manifestations of the disease leading to intussusception might be the first clinical sign. Patients with intestinal intussusception, and the presence of risk factors for human immunodeficiency virus infection should be eligible for serologic tests for human immunodeficiency virus infection.</p

Genomic investigations of unexplained acute hepatitis in children

Since its first identification in Scotland, over 1,000 cases of unexplained paediatric hepatitis in children have been reported worldwide, including 278 cases in the UK1. Here we report an investigation of 38 cases, 66 age-matched immunocompetent controls and 21 immunocompromised comparator participants, using a combination of genomic, transcriptomic, proteomic and immunohistochemical methods. We detected high levels of adeno-associated virus 2 (AAV2) DNA in the liver, blood, plasma or stool from 27 of 28 cases. We found low levels of adenovirus (HAdV) and human herpesvirus 6B (HHV-6B) in 23 of 31 and 16 of 23, respectively, of the cases tested. By contrast, AAV2 was infrequently detected and at low titre in the blood or the liver from control children with HAdV, even when profoundly immunosuppressed. AAV2, HAdV and HHV-6 phylogeny excluded the emergence of novel strains in cases. Histological analyses of explanted livers showed enrichment for T cells and B lineage cells. Proteomic comparison of liver tissue from cases and healthy controls identified increased expression of HLA class 2, immunoglobulin variable regions and complement proteins. HAdV and AAV2 proteins were not detected in the livers. Instead, we identified AAV2 DNA complexes reflecting both HAdV-mediated and HHV-6B-mediated replication. We hypothesize that high levels of abnormal AAV2 replication products aided by HAdV and, in severe cases, HHV-6B may have triggered immune-mediated hepatic disease in genetically and immunologically predisposed children

Hepatocellular Carcinoma: An Uncommon Metastasis in the Orbit

Hepatocellular carcinoma (HCC) represents the most common type of primary cancer of the liver and is associated with poor prognosis. It is the most common cause of death in cirrhotic patients and in different studies was shown as the third most common cause of cancer-related deaths worldwide. Each year, approximately half a million people are diagnosed with HCC. In recent decades, the prognosis of patients with HCC has improved because more cases are diagnosed and treated at early stages; high-risk patients (i.e., with chronic HBV or HCV infection) are followed more often for the possibility of HCC, and novel treatment options such as locoregional therapy are used with better overall results. The extrahepatic metastases represent a poor prognostic factor. The most common sites of metastasis in advanced hepatocellular carcinoma are the lung (44%), portal vein (35%), and portal lymph nodes (27%). Also, intra-abdominal lymph nodes and bones are common sites. Orbital metastases rarely occur, representing the 3-7% of orbital masses. These metastases are usually found in advanced tumor stages. The mechanism of metastasis to the orbit is difficult to determine. A hematogenous route, as for other primary neoplasms of the abdomen, may be suspected. Tumor cells may circulate through the vena cava, beyond the pulmonary filter to the heart, and finally be distributed to the orbital region through the arterial systemic circulation. We describe herein a case of an adult male with liver cirrhosis due to alcohol abuse who presented with concomitant diagnosis of HCC and orbit metastasis

Neuropsychological and syntactic deficits in HIV seropositive males

Objective: Given the underlying frontal-basal ganglia circuit neuropathogenesis of HIV-infected individuals, it is surprising that little is reported about potential language deficits as part of their higher cognitive dysfunctional profile. This study aims to elucidate whether HIV-positive individuals have linguistic impairments that may originate from or be intensified by deficits in cognitive functions. The research questions address (i) quantitative differences in sentence repetition abilities involving complex syntactic phenomena between adults with HIV and non-HIV healthy controls (ii) correlations of sentence repetition scores with neurocognitive measures and (iii) correlation of sentence repetition performance with duration and severity of HIV. Methods: A battery of neuropsychological tests were administered to 40 HIV-seropositive males and 40 demographically matched healthy controls to assess verbal learning/episodic memory, psychomotor speed, executive functions and visuospatial abilities. Language abilities were evaluated using a repetition task that screened specific complex syntactic operations at the sentence-level. Results: A significant difference was noted between the two groups regarding correct repetition of the sentence repetition task with the control group outperforming the HIV-seropositive group. For the HIV group, significant correlations were found for correct sentence repetition with years of education, duration of illness, Mini-Mental State Examination, semantic and phonemic fluency, symbol digit modality test scores, and the Trail Making Test (parts A and B). Conclusion: Speech-language pathologists and neuropsychologists should screen for language deficits associated with the different clinical syndromes in HIV patients as part of their routine clinical care