[Brain abscess and Osler-Weber-Rendu syndrome: Do not forget to look for pulmonary arteriovenous malformations]. / Abcès cérébral et maladie de Rendu-Osler-Weber : pensez à rechercher des malformations artério-veineuses pulmonaires.

INTRODUCTION: Osler-Rendu-Weber syndrome or hereditary hemorrhagic telangiectasia affects between 1/5000 and 1/8000 people. It is characterized by presence of recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations. It is a genetic disease with autosomal dominant transmission inducing an endothelial cells hyper-proliferation. CASE REPORT: A 68-year-old women with Osler-Rendu-Weber syndrome was referred for management of general impairment with confusional syndrome and hyperthermia. Various examinations have allowed us to conclude at diagnosis of brain abscess with ventriculitis probably favored by right-left shunt secondary to pulmonary arteriovenous malformations. Evolution was favorable after antibiotic treatment and endovascular embolization. CONCLUSION: In case of brain abscess without obvious promoting factor, don't forget to looking for a right-left shunt providing septic or aseptic emboli. Furthermore, diagnosis of Rendu-Osler-Weber syndrome should be considered presence of telangiectasias and/or epistaxis.

[Postoperative herpetic meningoencephalitis after lumbar surgery: a case report]. / Une méningo-encéphalite herpétique après chirurgie lombaire: à propos d'un cas.

We report a case of a patient with an herpetic meningoencephalitis complicating lumbar surgery. A combination of factors like a postoperative sepsis, an abnormal MRI, and a positive viral PCR and culture made the diagnosis. A prolonged acyclovir treatment was employed with satisfactory results. This case remembers us the possibility of herpes reactivation in a stressful situation (including surgical stress).

[Intra cranial abscess and empyemas from E.N.T. origin]. / Abcès et empyèmes intracrâniens d'origine O.R.L.

OBJECTIVES: The purpose of this study was to evaluate the diagnosis criteria, the bacteriology and the evolution after adapted treatment of intracranial abscess of ENT origin. MATERIAL AND METHODS: It was a retrospective study from 1985 to 2003 concerning 22 patients who had brain abscesses secondary to an ENT infection. RESULTS: The infectious origin was sinusoid in 32% of cases, otologic in 32% of cases, pharyngeal or dental in 27% of cases and cutaneous in 9% of cases. The clinical symptoms were: fever in 55% of cases, headache in 73% of cases (Intra cranial hypertension syndrome in 23% of cases), epilepsy in 32% of cases and various other neurologic symptoms. Bacteria were identified in 82% of cases. In 50% of cases multibacterial associations were found. All the patients had bi antibiotherapy associated to surgical excision of the abscess (16 cases) or single (or more) punction (stereotaxic guided or not) of the abscess. 3 patients (14%) died and 50% are alive and well. CONCLUSION: The diagnosis of cerebral abscess is often difficult. The "classical" intracranial hypertension associated to high fever is usually incomplete and sometimes absent. There is no predominant bacteria involved and multibacterial infections are frequent. Despite abscesses are serious and potentially lethal, an early diagnosis, a medical (antibiotics) and surgical treatment (punction and/or surgical excision) may completely be cured in more than 50% of cases.

[Intracranial hemorrhages associated with oral anticoagulant therapy. Analysis of 38 cases]. / Hémorragies intracrâniennes associées à un traitement anticoagulant oral. Analyse de 38 observations.

The major risk of oral anticoagulant therapy is haemorrhage potentially affecting all organs. Bleeding in the central nervous system is a rare but severe complication of anticoagulant therapy. This study aimed to analyse a series of intracranial haemorrhages. This series from the Regional Pharmacovigilance Center of Amiens included spontaneously reported and retrospectively collected cases from January 1999 to December 2000. During this period, 38 cases of intracranial bleeding possibly related to oral anticoagulant administration were reported; 19 women and 19 men, median age 69.5 (29 to 87) years. In 34% of the cases, patients died and in 18% neurologic sequelae were still present at the time of the evaluation. In 21 cases (62%), the INR (International Normalized Ratio) was higher than the therapeutic range recommended for the indication. Among the most frequent risk factors, hypertension and recent minor trauma are highlighted in this series. In 17 cases, oral anticoagulants were associated with potentially potentiating drugs. Mental status changes or headache were prominent early symptoms which had often been present for days. Our data confirm that anticoagulant-associated intracranial haemorrhages are not rare, can be severe, potentially fatal and are probably underestimated by physicians. The fact that more than 50% of patients in this series were overanticoagulated at the time of bleeding suggests that many cases of intracranial haemorrhage could be prevented by improved anticoagulation control. Epidemiological studies are needed in order to prospectively evaluate the incidence of this type of complication and its avoidance. The value of anticoagulation clinics can be discussed.

Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency.

Severe inherited factor VII (FVII) deficiency is a rare autosomal recessive disorder with a poor relationship between FVII coagulant activity and bleeding tendency. Both clinical expression and mutational spectrum are highly variable. We have screened for mutations the FVII gene of 37 unrelated patients with a FVII coagulant activity less than 5% of normal pooled plasmas. The nine exons with boundaries and the 5' flanking region of the FVII gene were explored using a combination of denaturing gradient gel electrophoresis and direct DNA sequencing. This strategy allowed us to characterise 68 out of the 74 predicted FVII mutated alleles. They corresponded to a large panel of 40 different mutations. Among these, 18 were not already reported. Genotypes of the severely affected patients comprised, on both alleles, deleterious mutations which appeared to be related to a total absence of activated FVII. We suggest that this absence of functional FVII can explain the severe clinical expression. Whether a small release of FVII is sufficient to initiate the coagulation cascade and to prevent the expression of a severe phenotype, requires further investigations.

Compound heterozygotes for hemochromatosis gene mutations: may they help to understand the pathophysiology of the disease?

Two mutations have been described on the gene considered to be responsible for genetic hemochromatosis, the HLA-H or HFE gene. The C282Y mutation is a disease-causing mutation in most cases of genetic hemochromatosis, but involvment of the H63D substitution in the pathogenesis of the disease is unclear. Compound heterozygotes for both substitutions could help to determine whether or not the second mutation is a worsening factor when associate in trans with the C282Y mutant. We found twenty nine compound heterozygotes during DNA analysis of patients referred to our laboratory for the screening of those mutations. Clinical and biological data were obtainable for 23 of them. Compound heterozygotes could be divided into two groups: subjects with or without iron overload. Five (22%) individuals had normal ferritin levels, whereas 18 had elevated ferritin concentrations (78%). Among those 18 patients, 7 (30% of the total) had clinical and biological criteria of genetic hemochromatosis. Eleven had iron overload without all the criteria of genetic hemochromatosis. Such a high proportion of genetic hemochromatosis is not found in heterozygotes for the C282Y mutation alone neither in our series nor in the literature. Compound heterozygotes for the C282Y and the H63D mutations may have a higher risk of iron overload or genetic hemochromatosis than single heterozygotes for the C282Y mutation. We propose a schematic theoretical representation that could explain this fact at the protein level. Further fundamental studies on the protein, and clinical follow up of compound heterozygotes could help to ascertain this hypothesis.

Diagnosis strategies in activated protein C resistance: is genotyping still necessary?

Resistance to activated protein C (APC) is due, in most cases, to a G to A mutation at nucleotide 1691 of factor V (FV) gene (the Leiden mutation). This inherited abnormality is now considered to be the major hereditary cause associated with an elevated risk of thrombosis. For this reason, laboratories are faced with an increasing number of samples referred for APC resistance diagnosis. This could have serious economic consequences and a comprehensive laboratory screening strategy for APC resistance is necessary. An original DNA assay based on denaturing gradient gel electrophoresis (DGGE) was designed in our laboratory. During a first period we systematically performed DNA analysis and compared the results with phenotypic assays. Using the modified functional test with a 1:5 predilution of plasmas, the cut-off value for APC resistance ratio was 2.6 in our sample. Among 94 consecutive patients referred to our laboratory we found a clear cut-off between the APC resistance ratio obtained for normal and abnormal individuals. The modified test had a predictive value of 1.0 found by a cut-off < or = 2.6 for the heterozygote FV Leiden. This obviates the necessity of genotyping subjects with a normal phenotype. Among patients with an abnormal phenotype we were able to fully discriminate between homozygous and heterozygous patients using a cut-off value of 1.5. Nevertheless, our results demonstrate that, because of false-positive results such as lupus anticoagulant, genotyping is still indicated for patients with an abnormal ratio determined with the modified APC resistance test. The strategy described here allows us to safely lower the number of samples analysed by DGGE.

[Headaches after spinal anesthesia: prospective multicenter study of a young adult population]. / Céphalées postrachianesthésie: étude prospective multicentrique dans une population d'adultes jeunes.

OBJECTIVE: We assessed the occurrence of post-dural puncture headache (PDPH) in a group of young adults following spinal anaesthesia using a 24-gauge Sprotte needle. STUDY DESIGN: Prospective, multicentre, non-randomized study. PATIENTS: This 9 month-long study, included 1,122 patients less than 50 years-old, consisting of 502 women and 620 men. METHODS: Assessment of PDPH after 48 hours and 7 days. RESULTS: PDPH occurred in 0.8 percent of patients. There was no statistically significant difference in terms of age group or gender between the patients. Incidence of PDPH did not depend on type of anaesthetic solution, puncture level or ease of puncture. DISCUSSION: The use of 24-gauge Sprotte needles was associated with a low rate of puncture difficulties. Usual predisposing factors for PDPH, such as age below 50 years and female gender do no longer apply with this type of needle. The rate of puncture difficulties was low (6.7 percent), in contrast with ultra-fine 27 or 29 gauge needles, which sometimes result in puncture failure. Acceptance of the technique was excellent, as 99.38 percent of patients were satisfied. CONCLUSION: The indications of spinal anaesthesia could be extended to young patients, whatever their gender, using a non-traumatic 24-gauge Sprotte needle.

[Factor XI deficiency, a new way of substitution: human purified concentrates]. / Déficit en facteur XI, un nouveau moyen de substitution: les concentrés humains purifíes.

Case report of a 26-year-old patient, admitted for severe craniofacial trauma, with facial injuries and intracranial haemorrhage. Preoperative tests showed an aPTT = 64 s (control = 29 s), rapidly recognized as being caused by a major constitutional factor XI deficiency (0.06 Ul.mL-1). Considering the neurological risk and the indication for surgery, concentrates of factor XI were administered at a dosage of 25 Ul.kg-1. This treatment was associated with a biological normalization and uneventful surgery. In patients experiencing a factor XI deficiency, the use of fresh frozen plasma will probably decrease and only administered in emergency cases when factor XI concentrates are not available.

[Recurrent cystitis and crenotherapy. 302 cases]. / Cystites récidivantes et crénothérapie. Trois cent deux cas.

This article analyzes a series of 302 female patients prone to cystitis. The fact that these women were seen in a urological crenotherapy center highlights the very evolutive nature of the disease. The high rate of E coli present in the urine should be noted. Most of the women had a normal intravenous urogram and a normal endoscopy. The "classic" causes are rarely responsible for attacks of cystitis, but sexual intercourse and pregnancy seem to play a part. Several of the women took estroprogestative pills, or wore an intra-uterine device. The rate of bowel symptomatology-colopathy or constipation--should be noted. The article assesses the evolution of cystitis before and after crenotherapy at La Preste.