Regional portal hypertension revealing malignant adrenal cortical carcinoma]

The authors report a rare case of regional portal hypertension secondary to splenic vein obstruction by left adrenal carcinoma metastasis. They review the principal literature data concerning regional portal hypertension and adrenal cortical carcinoma.     

Role of in situ alkalinization in the treatment of obstructive uric acid lithiasis]

The authors report a series of nine reno-ureteral obstructive uric acid calculi initially treated by percutaneous nephrostomy. After attempting stone dissolution by in situ alkalinization, they discuss the place of such a method among the various treatments for uric acid stones.     

Hydatid cysts of the brain stem. Two cases

Cerebral hydatid cysts represent 2-3% of all intracranial masses in endemic countries. Its incidence in posterior fossa is very rare. We report two cases of brainstem location. Clinically, the lesion exhibited signs of brainstem tumor. In two patients, CT scan showed a hypodense lesion. There was no enhancement after contrast administration. One patient was explored by MRI; on precontrast images, the lesion appeared homogeneous with hyposignal intensity and smooth limits. T2 weighted MRI and post contrast examination confirmed the cyst nature of the lesion. Surgery was performed in the two patients. The cyst was first aspirated and its membrane was then removed. Post operatively, one patient died, the other one is still alive but severely affected two years later. CT scan showed total disappearance of the cyst. The clinical presentation, radiological findings and surgical procedures are discussed.     

Clinical, biological and genetic study of 24 patients with ataxia telangiectasia from southern Tunisia

Ataxia telangiectasia is a multisystem disease with an autosomal recessive inheritance. It is characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, humoral and cellular immunodeficiencies and high incidence of neoplasia and radiosensitivity. A 5 year retrospective survey included 24 patients belonging to 17 families. Cerebellar ataxia was the first clinical symptom and was usually noticed when the child began to walk. Mean age of onset was 2.9+/-1.8 years. Oculocutaneous telangiectasia was present in 17 cases and appeared between 2 and 8 years and then spread in a characteristic symmetrical pattern. When ocular telangiectasia was absent (6 cases), the diagnostic of ataxia telangiectasia was retained on oculomotor apraxia (2 cases), recurrent sinopulmonary infections (3 cases) and/or a sib with typical ataxia telangiectasia (1 case). Recurrent sinopulmonary infections, absence or low serum level of IgA (78 p.100) and lymphopenia revealed immunodeficiency. Among 12 patients, chromosomal instability was observed in 5. Balanced rearrangements involving chromosomes 2, 7, 14, 22, 1, 3 and 11. The responsible gene, ATM, encodes a large protein kinase with a phosphatidylinositol 3-kinase-like domain. Ataxia telangiectasia patients have a 100 fold higher risk of cancer than the general population. We reported, in the same family two patients who developed neoplasia, (lymphoma and leukemia). During follow-up, a progressive worsening was observed in all cases. Three patients have died.     

Chronic neuroprotective effects of low concentration lithium on SH-SY5Y cells:possible involvement of stress proteins and gene expression

To investigate the molecular mechanism underlying the neuroprotective effect of lithium on cells, in this study, we exposed SH-SY5Y cells to 0.5 mmol/L lithium carbonate(Li2CO2) for 25–50 weeks and then detected the expression levels of some neurobiology related genes and post-translational modifications of stress proteins in SH-SY5Y cells. cDNA arrays showed that pyruvate kinase 2(PKM2) and calmodulin 3(CaM 3) expression levels were significantly down-regulated, phosphatase protein PP2A expression was lightly down-regulated, and casein kinase II(CK2), threonine/tyrosine phosphatase 7(PYST2), and dopamine beta-hydroxylase(DBH) expression levels were significantly up-regulated. Besides, western blot analysis of stress proteins(HSP27, HSP70, GRP78 and GRP94) showed an over-expression of two proteins: a 105 kDa protein which is a hyper-phosphorylated isoform of GRP94, and a 108 kDa protein which is a phosphorylated tetramer of HSP27. These results suggest that the neuroprotective effects of lithium are likely related to gene expressions and post-translational modifications of proteins cited above.     

The impact of elevated serum IgG4 levels in patients with primary sclerosing cholangitis

Background

Elevated IgG4 levels have been reported among patients with primary sclerosing cholangitis. Epidemiological data has only been provided from tertiary centres.

Aims

To investigate the prevalence of elevated IgG4 levels and to compare prognosis between patients with and without elevated IgG4 levels in serum in two European cohorts of patients with primary sclerosing cholangitis.

Methods

Serum IgG4-levels were measured in a consecutive series of patients from Berlin, and retrospectively collected in a population-based cohort from Sweden (total N = 345). Cox's proportional hazard analysis was used to calculate relative risks for liver-related death or liver transplantation and cholangiocarcinoma.

Results

Elevated IgG4 values were demonstrated in 10% of patients. A previous history of pancreatitis, combined intra- and extrahepatic biliary involvement and jaundice were independently associated with elevated IgG4 in multivariate analysis. IgG4 status was not associated with an increased risk for the combined endpoint liver-related death or liver transplantation or cholangiocarcinoma.

Conclusion

The prevalence of elevated IgG4 values among European patients with primary sclerosing cholangitis is similar to what previously has been reported from the United States. Elevated IgG4 was not associated with an increased risk of liver transplantation or liver-related death or cholangiocarcinoma.