Ectopic hepatocellular carcinomas developed in the chest wall and skull

A 68-year-old man presented with a suppurating mass on his skull and a palpable mass on his right upper thoracic wall. Computed tomography revealed a round mass, 70 mm in diameter, invading the right pleural cavity, and a second tumor infiltrating the skull through the left parietal bone. Both masses were resected simultaneously. Histopathology showed that both tumors were hepatocellular carcinomas.     

Neuroendocrine differentiation in embryonal type hepatoblastoma

Hepatoblastoma, a malignant tumor which arises occasionally in older children but very rarely in adults, exhibits divergent differentiation with embryonal cells, fetal hepatocytes and immature elements. This report describes an embryonal type hepatoblastoma with neuroendocrine differentiation in a 16‐year‐old patient, which was diagnosed postoperatively. Clinical and radiologic work‐up failed to reveal a primary gastrointestinal malignancy and no primary lesions were detected in any other organ. This feature of hepatoblastoma is considered to be a multidirectional differentiation of the small epithelial or stem cells of the liver. At 2‐year follow up, the patient remains symptom‐free, with normal laboratory and diagnostic imaging studies, and no recurrent or metastatic disease identified.     

Acute respiratory distress syndrome: new definition,current and future therapeutic options

Since acute respiratory distress syndrome (ARDS) was first described in 1967 there has been large number of studies addressing its pathogenesis and therapies. Despite this intense research activity, there are very few effective therapies for ARDS other than the use of lung protection strategies. This lack of therapeutic modalities is not only related to the complex pathogenesis of this syndrome but also the insensitive and nonspecific diagnostic criteria to diagnose ARDS. This review article will summarize the key features of the new definition of ARDS, and provide a brief overview of innovative therapeutic options that are being assessed in the management of ARDS.KEY WORDS : Acute respiratory distress syndrome (ARDS), pathogenesis, therapeutic options     

Presence of disease specific autoantibodies against liver sinusoidal cells in primary biliary cirrhosis

AIM: To investigate the presence of autoantibodies directed against liver sinusoidal cells in primary biliary cirrhosis (PBC).METHODS: Liver biopsies from 21 PBC patients were studied and compared with 12 liver biopsies from disease controls [3 patients with hepatitis B (HBV) virus, 3 patients with hepatitis C virus (HCV), 3 patients with non-alcoholic steatohepatitis and 3 patients with acute alcoholic hepatitis (AAH)]. As healthy controls, we used tissue specimens adjacent to metastatic liver adenocarcinoma. Normal serum was taken from staff members of the unit. The determination of the cell type targeted by autoantibodies present in the patients sera was performed by indirect immunofluorescence (IIF) analysis using paraffin-embedded liver sections as a substrate. Sera from homologous or heterologous PBC patients or sera from the disease control group were used as primary antibodies. The presence of autoantibodies was identified using confocal microscopy.RESULTS: In total, 18/21 (85.7%) PBC patients exhibited positive staining in the sinusoidal cells, 10/21 (47.6%) in lymphocytes, 8/21 (38%) in cholangiocytes and 7/21 (33.3%) in hepatocytes, when homologous serum and fluorescein isothiocyanate-conjugated immunoglobulin type G (IgG) secondary antibody were used. PBC sections incubated with heterologous PBC serum showed reduced staining (20% for sinusoidal cells, 20% for lymphocytes, 20% for cholangiocytes and 13.3% for hepatocytes). When IgM immunoglobulin, instead of IgG, was used as secondary antibody, positive staining was observed in 75% of lymphocytes, 62.5% of cholangiocytes, 37.5% of hepatocytes and 50% of the sinusoidal cells with a much stronger staining intensity. No staining was observed when either normal or PBC sera were used as a primary antibody on liver sections from the disease control group. When PBC sera were incubated with healthy control sections, weak positive staining of cholangiocytes was observed in 3/21 (14.3%) PBC serum samples. Steatohepatitis serum on PBC sections gave a positive staining of some hepatocytes and lymphocytes but no staining on viral hepatitis sections. Incubation with HBV sera stained some hepatocytes, cholangiocytes and intra-sinusoidal or portal lymphocytes of PBC, HBV and AAH patients but not HCV patients.CONCLUSION: In this study, for the first time in diseased liver tissue, we have demonstrated that a large proportion of PBC patients have disease specific autoantibodies against liver sinusoidal cells.     

High homocysteine and low folate concentrations in acute aortic dissection

Background

Biomarkers for monitoring progression and prognosis of thoracic aneurysm are of great interest. Homocysteine (Hcy) induces elastolysis in arterial media and may directly affect fibrillin-1 or collagen whereas lipoprotein (Lp) (a) inhibits elastolysis by reducing activation of matrix metallopeptidase-9.

Methods

We studied 31 consecutive patients with acute aortic dissection (AAD) admitted for emergency surgery (group I, 60 ± 13 years old, 25 men), 30 consecutive patients with chronic aneurysms of the ascending aorta (group II, 67 ± 12 years old, 24 men) and 20 healthy controls (group III, 58 ± 15 years old, 14 men). We evaluated Hcy, folate, B12, Lp(a) and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism at baseline.

Results

Hcy, folate and B12 differed significantly among the 3 studied groups (P = 0.016, P = 0.004 and P = 0.001, respectively). The levels of Hcy and B12 were significantly higher in group I compared to both groups II and III (P = 0.05 and P = 0.002, P < 0.001 and P = 0.017, respectively) and without significant differences between groups II and III (P = 0.083 and P = 0.124). Folate was significantly lower in group I compared to both groups II and III (P = 0.001 and P = 0.006, respectively) and without marked difference between groups II and III (P = 0.409). No significant difference was found in serum levels of Lp (a) (P = 0.074) or among the frequency of MTHFR C677T genotypes.

Conclusions

Patients with AAD present with higher Hcy and lower folate compared to both chronic aneurysms and controls.     

Insulin sensitivity assessment with euglycemic insulin clamp in adult beta-thalassaemia major patients

Objective: To assess insulin sensitivity in young adult normoglycemic β‐thalassaemia major patients. Methods: We measured insulin sensitivity with the euglycemic insulin clamp in 10 young adult (mean age 24.85 ± 2.45 yrs) normoglycemic β‐thalassaemia major patients and 10 sex‐ & age‐ matched controls. Liver iron accumulation was assessed by magnetic resonance imaging (MRI). Results: Glucose infusion rate (M) required to maintain euglycemia was significantly reduced in thalassaemic patients compared to controls (261.5 ± 63.5 mg/m²·min vs. 355.6 ± 35.3 mg/m²·min, P = 0.008). Consequently, significantly reduced in the thalassaemic group were also tissue sensitivity to insulin (M/I_s‐s) and glucose metabolic clearance rate (M/G_s‐s). There was significant negative correlation between ferritin levels and glucose infusion rate (r = ?0.918 P = 0.004). No significant correlations were observed between age, body mass index, daily transfusional iron accumulation, liver iron content and any of the euglycemic clamp parameters. Fasting insulin levels were significantly increased in patients with β‐thalassaemia major compared to controls (P = 0.01), and had significant negative correlation to MRI‐derived liver iron content (r = ?0.733, P = 0.03). Conclusions: Our data indicate that reduced insulin sensitivity resulting in hyperinsulinaemia precedes the manifestation of glucose intolerance in patients with β‐thalassaemia major. Insulin resistance seems to correlate with increased serum ferritin levels.     

Comparison of the Lupus Foundation of America–Rapid Evaluation of Activity in Lupus to More Complex Disease Activity Instruments As Evaluated by Clinical Investigators or Real‐World Clinicians

Objective

Lupus disease measures such as the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) and the British Isles Lupus Assessment Group (BILAG) index are challenging to interpret. The Lupus Foundation of America–Rapid Evaluation of Activity in Lupus (LFA‐REAL) is intended to provide an efficient application of anchored visual analog scores, each representing the individual severity of active symptoms, with the sum of individual scores deriving an overall disease activity assessment. Our objective was to compare the performance of LFA‐REAL to systemic lupus erythematosus disease activity assessments and compare scores between trained lupus clinical investigators and clinicians.

Methods

Investigators scored the SLEDAI, BILAG, physician's global assessment (PGA), and LFA‐REAL, while the clinicians scored the LFA‐REAL. The level of agreement between physicians and instruments was determined.

Results

The study included 99 patients (93% women, 31% white, mean ± SD ages 43.4 ± 13.2 years). At the first visit, the mean ± SD SLEDAI score was 5.5 ± 4.5, BILAG score 6.7 ± 7.8, and PGA score 33.6 ± 24.5. The mean ± SD investigator LFA‐REAL score was 46.2 ± 42.9, and clinician LFA‐REAL score 56.1 ± 53.6. At the second visit, the mean ± SD investigator LFA‐REAL score was 41.3 ± 36.7, and clinician LFA‐REAL score 48.3 ± 42.6. Total LFA‐REAL scores correlated positively with PGA, SLEDAI, and BILAG (ρ = 0.58–0.88, P < 0.001). LFA‐REAL scores produced correlation coefficients of ρ > 0.7 for musculoskeletal, mucocutaneous, and renal BILAG domains. The intraclass correlation coefficient between the LFA‐REAL scores of investigators and clinicians was 0.79 for visit 1 (P < 0.001) and 0.86 for visit 2 (P < 0.001).

Conclusion

The LFA‐REAL provides a reliable surrogate for more complicated disease activity measures when used by lupus clinical investigators or clinicians.

     

Multiple Nevoid Hypertrichosis as An Isolated Developmental Defect

Abstract:   A 3-year-old girl presented with longer hair on the left side of her scalp, coarse hair of abnormal length on her extremities, and a tuft of hair in the lumbosacral region, with all hair distributed on normally pigmented skin. Neither similar or relevant family history nor associated extracutaneous abnormalities was detected after a thorough examination. Clinical diagnosis of patchy nevoid hypetrichosis was confirmed by histology. Nevoid hypertrichosis is a rare hair growth disorder that usually presents at or soon after birth. It is characterized by patches of hypertrichosis distributed in a segmental pattern. It may be accompanied by mental, ocular, or myoskeletal abnormalities. Cases of nevoid hypertrichosis with multiple patches presenting as a solitary developmental defect have been rarely described in the literature.     

<Emphasis Type="Italic">“I’m not being rude,I’d want somebody normal</Emphasis>”: Adolescents’ Perception of their Peers with Tourette’s Syndrome: an Exploratory Study

Tourette’s syndrome (TS) is a highly stigmatised condition, and typically developing adolescents’ motives and reasons for excluding individuals with TS have not been examined. The aim of the study was to understand how TS is conceptualised by adolescents and explore how individuals with TS are perceived by their typically developing peers. Free text writing and focus groups were used to elicit the views of twenty-two year ten students from a secondary school in South East England. Grounded theory was used to develop an analytical framework. Participants’ understanding about the condition was construed from misconceptions, unfamiliarity and unanswered questions. Adolescents who conceived TS as a condition beyond the individual’s control perceived their peers as being deprived of agency and strength and as straying from the boundaries of normalcy. People with TS were viewed as individuals deserving pity, and in need of support. Although participants maintained they had feelings of social politeness towards those with TS, they would avoid initiating meaningful social relationships with them due to fear of ‘social contamination’. Intergroup anxiety would also inhibit a close degree of social contact. Participants that viewed those with TS as responsible for their condition expressed a plenary desire for social distance. However, these behavioural intentions were not limited to adolescents that elicited inferences of responsibility to people with TS, indicating that attributional models of stigmatisation may be of secondary importance in the case of TS. Implications for interventions to improve school belonging among youth with TS are discussed.     

Multidisciplinary lymphedema treatment program

Lymphedema is an underrecognized and undertreated condition that requires a multidisciplinary approach in an individualized program that will address the special needs of each patient. In an ideal setting of an outpatient management program the team should be composed of a vascular surgeon, a dermatologist, a physiotherapist, a dietician, a psychologist, a social worker, and an office employee, working together in the assessment and management of all aspects of lymphedema. All treatment strategies and actions taken should ultimately focus on the improvement of the quality of life of patients suffering from lymphedema and on the prevention of lymphedema in high-risk patients.