Recurrent valvular replacement due to exacerbation of Behcet's disease by Streptococcus agalactiae infection

Valvular heart complications in Behcet's disease are rarely reported. Moreover, the risk of dehiscence in postoperative valvular replacement is high in Behcet's disease. We report a case of recurrent aortic prosthetic dehiscence revealing Behcet's disease in a young woman. Each disease exacerbation was concomitant to a Streptococcus agalactiae infection. This infection appears to act as a trigger for Behcet's disease exacerbation. The patient was successfully treated with immunosuppression plus antibiotic therapy.     

High variability of plasma drug concentrations in dual protease inhibitor regimens

Ritonavir (RTV) strongly increases the concentrations of protease inhibitors (PIs) in plasma in patients given a combination of RTV and another PI. This pharmacological interaction is complex and poorly characterized and shows marked inter- and intraindividual variations. In addition, RTV interacts differently with saquinavir (SQV), indinavir (IDV), amprenavir (APV), and lopinavir (LPV). In this retrospective study on 542 human immunodeficiency virus-infected patients, we compared inter- and intraindividual variability of plasma PI concentrations and correlations between the C(min) (minimum concentration of drug in plasma) values for RTV and the coadministered PI C(min) values. Mean RTV C(min)s are significantly lower in patients receiving combinations containing APV or LPV than in combinations with SQV or IDV. With the most common PI dose regimens (600 mg of IDV twice a day [BID], 800 mg of SQV BID, and 400 mg of LPV BID), the interindividual C(min) variability of patients treated with a PI and RTV seemed to be lower with APV and LPV than with IDV and SQV. As regards intraindividual variability, APV also differed from the other PIs, exhibiting lower C(min) variability than with the other combinations. Significant positive correlations between RTV C(min) and boosted PI C(min) were observed with IDV, SQV, and LPV, but not with APV. Individual dose adjustments must take into account the specificity the pharmacological interaction of each RTV/PI combination and the large inter- and intraindividual variability of plasma PI levels to avoid suboptimal plasma drug concentrations which may lead to treatment failure and too high concentrations which may induce toxicity and therefore reduce patient compliance.     

Sleep disorders in childhood and adolescence

Sleep disorders in children are very common and their impact on emotional and cognitive functions is considerable. Various pathogenetic factors have to be considered, especially a disturbed sleep-wake rhythm but also organic or psychiatric causes. Symptoms and pathogenetic factors for sleep disorders in children are quite different from adults. In children especially parent-child interactional factors and developmental aspects of the sleep architecture have to be taken into account what necessitates a different diagnostic approach. This article describes systematically typical sleep disorders in children and gives practical advices for an anamnestic and diagnostic access to the subject.     

Retroviral transduction of splice variant <Emphasis Type="Italic">Brca1</Emphasis>-Δ11 or mutant <Emphasis Type="Italic">Brca1</Emphasis>-W1777Stop causes mouse epithelial mammary atypical duct hyperplasia

We have investigated the effects of the expression of wild-type and mutant Brca1 alleles on the murine mammary gland morphogenesis and carcinogenesis. Primary cultures of mammary cells from BALB/cByJIco mice were infected with recombinant Babe Puro retroviruses expressing lacZ, full-length Brca1, splice variant Brca1-Delta11, or mutant Brca1-W1777Stop alleles. Infected cells were reinjected into the mammary fat pad of a syngeneic virgin mouse whose endogenous epithelium had previously been removed. Four months after reinjection, nulliparous and postlactating mice were checked for the reconstitution of the mammary gland. Stable expression of beta-galactosidase was observed in the ducts formed by epithelial mammary cells infected with Babe Puro/ lacZ retrovirus. Epithelial mammary cells transduced with full-length Brca1 developed normally, whereas those transduced with Brca1-Delta11 or Brca1-W1777Stop formed atypical duct hyperplasia associated with reduced branching. These results suggest that ectopically expressed splice variant Brca1-Delta11 and mutant Brca1-W1777Stop have dominant negative effects.     

Telephone clinic improves quality of follow-up care for chronic bowel disease

The unpredictable course of inflammatory bowel disease means that many patients are in remission when they are scheduled to attend a follow-up appointment. They often face long, unnecessary waits in congested outpatient departments when they require only verbal intervention. This article describes a year-long pilot study by a team of nurses and a consultant which involved offering telephone support to IBD patients. The service reduced unnecessary follow-up, provided rapid help during periods of relapse and promoted individualised care.     

Fabry's disease and hypoparathyroidism

INTRODUCTION: Fabry's disease is due to alpha-galactosidase deficiency. This rare lysosomal storage disease is transmitted by recessive X-linked heredity. Sphingolipids (galactosyl-glucosyl-ceramide) accumulate in many organs. CASE REPORT: A 19-year-old man with known hypoparathyroidism presented with telangiectasia and angiokeratomas on the buttocks, the hips, the hands and around the navel. For many years, he suffered from paroxysmal pain in the hands and feet. From childhood, he had complained of diffuse abdominal pain, associated with diarrhea. Ophthalmological slit lamp fundus examination showed corneal telangiectasia and cornea verticella. There was no kidney or heart involvement. The diagnosis of Fabry's disease was confirmed by very low levels of alpha-galactosidase. DISCUSSION: We did not find any other association of hypoparathyroidism and Fabry's disease in the literature. Hypoparathyroidism is not a manifestation of Fabry's disease. Idiopathic hypoparathyroidism is very rare and a genetic origin is known. This disease can be recessive X-linked. A co-transmission of idiopathic hypoparathyroidism and Fabry's disease is probable in our patient.