Hemorrhagic transformation after stroke: inter- and intrarater agreement.

BACKGROUND AND PURPOSE: Hemorrhagic transformation (HT) is a complication of stroke that can occur spontaneously or after treatment. We aimed to assess the inter- and intrarater reliability of HT diagnosis. METHODS: Studies assessing the reliability of the European Cooperative Acute Stroke Study (ECASS) classification of HT or of the presence (yes/no) of HT were systematically reviewed. A total of 18 raters independently examined 30 post-thrombectomy computed tomography scans selected from the Aspiration versus STEnt-Retriever (ASTER) trial. They were asked whether there was HT (yes/no), what the ECASS classification of the particular scan (0/HI1/HI2/PH1/PH2) (HI indicates hemorrhagic infarctions and PH indicates parenchymal hematomas) was and whether they would prescribe an antiplatelet agent if it was otherwise indicated. Agreement was measured with Fleiss' and Cohen's κ statistics. RESULTS: The systematic review yielded four studies involving few (≤3) raters with heterogeneous results. In our 18-rater study, agreement for the presence of HT was moderate [κ = 0.55; 95% confidence interval (CI), 0.41-0.68]. Agreement for ECASS classification was only fair for all five categories, but agreement improved to substantial (κ = 0.72; 95% CI, 0.69-0.75) after dichotomizing the ECASS classification into 0/HI1/HI2/PH1 versus PH2. The inter-rater agreement for the decision to reintroduce antiplatelet therapy was moderate for all raters, but substantial among vascular neurologists (κ = 0.70; 95% CI, 0.57-0.84). CONCLUSION: The ECASS classification may involve too many categories and the diagnosis of HT may not be easily replicable, except in the presence of a large parenchymal hematoma.

Herbicide resistance-endowing ACCase gene mutations in hexaploid wild oat (Avena fatua): insights into resistance evolution in a hexaploid species.

Many herbicide-resistant weed species are polyploids, but far too little about the evolution of resistance mutations in polyploids is understood. Hexaploid wild oat (Avena fatua) is a global crop weed and many populations have evolved herbicide resistance. We studied plastidic acetyl-coenzyme A carboxylase (ACCase)-inhibiting herbicide resistance in hexaploid wild oat and revealed that resistant individuals can express one, two or three different plastidic ACCase gene resistance mutations (Ile-1781-Leu, Asp-2078-Gly and Cys-2088-Arg). Using ACCase resistance mutations as molecular markers, combined with genetic, molecular and biochemical approaches, we found in individual resistant wild-oat plants that (1) up to three unlinked ACCase gene loci assort independently following Mendelian laws for disomic inheritance, (2) all three of these homoeologous ACCase genes were transcribed, with each able to carry its own mutation and (3) in a hexaploid background, each individual ACCase resistance mutation confers relatively low-level herbicide resistance, in contrast to high-level resistance conferred by the same mutations in unrelated diploid weed species of the Poaceae (grass) family. Low resistance conferred by individual ACCase resistance mutations is likely due to a dilution effect by susceptible ACCase expressed by homoeologs in hexaploid wild oat and/or differential expression of homoeologous ACCase gene copies. Thus, polyploidy in hexaploid wild oat may slow resistance evolution. Evidence of coexisting non-target-site resistance mechanisms among wild-oat populations was also revealed. In all, these results demonstrate that herbicide resistance and its evolution can be more complex in hexaploid wild oat than in unrelated diploid grass weeds. Our data provide a starting point for the daunting task of understanding resistance evolution in polyploids.

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

Bardet-Biedl syndrome (BBS), an emblematic disease in the rapidly evolving field of ciliopathies, is characterized by pleiotropic clinical features and extensive genetic heterogeneity. To date, 14 BBS genes have been identified, 3 of which have been found mutated only in a single BBS family each (BBS11/TRIM32, BBS13/MKS1 and BBS14/MKS4/NPHP6). Previous reports of systematic mutation detection in large cohorts of BBS families (n > 90) have dealt only with a single gene, or at most small subsets of the known BBS genes. Here we report extensive analysis of a cohort of 174 BBS families for 12/14 genes, leading to the identification of 28 novel mutations. Two pathogenic mutations in a single gene have been found in 117 families, and a single heterozygous mutation in 17 families (of which 8 involve the BBS1 recurrent mutation, M390R). We confirm that BBS1 and BBS10 are the most frequently mutated genes, followed by BBS12. No mutations have been found in BBS11/TRIM32, the identification of which as a BBS gene only relies on a single missense mutation in a single consanguineous family. While a third variant allele has been observed in a few families, they are in most cases missenses of uncertain pathogenicity, contrasting with the type of mutations observed as two alleles in a single gene. We discuss the various strategies for diagnostic mutation detection, including homozygosity mapping and targeted arrays for the detection of previously reported mutations.

[Ocular manifestation of Behçet disease (study of 50 patients consulting in dermatology department)]. / Les manifestations oculaires de la maladie de Behçet (étude de 50 patients consultant en dermatologie).

INTRODUCTION: Behçet disease is a multisystemic vascularitis. Ocular affection is one of the major criteria of this disease. The aim of this study is to specify the clinical, therapeutical characteristics and the prognosis factors of the ocular affection in patients having BD and admitted to the dermatology department. PATIENTS AND METHODS: It is a retrospective investigation carried out in the dermatology department of Ibn Rochd university hospital center of Casablanca, Morroco, from Jannuary 1990 until December 2003. Two patient groups have been distinguished. The first one involved 50 patients (44,2%) having BD with ocular affection, and the second group involved 63 patients having BD without ocular affection. RESULTS: The mean age was 29 +/- 8 years in the first group VS 30 +/- 7,9 years in the 2(nd) group. The ocular affection was more frequent in males than in females (P < 0.05). The ocular manifestations were marked by uveitis and retinal periphlebitis. The frequency of the cutaneomucosal and joint manifestations was similar in both groups, whereas neurologic and vascular with ocular affections. The choice of the treatment depended on the type of ocular affection. Evolution was marked by blindness in 6 patients (12%). DISCUSSION: The ocular affection comes second after the cutanous mucuous affection. Males are more clearly affected than females. This allows saying that there is a marked effect of the sexual hormones on the ocular affection. Age is not predictive of this ocular affection. The ocular affection was severe in our series and was dominated by uveitis and vascularitis. We insist on the severity of ocular Behçet and its evolution? Risk toward blindness especially concerning young man. Currently, the treatment is not codified; however, the encouraging outcome obtained with some immunosuppressive therapies would be better if this treatment was set up early. CONCLUSION: This study enebed us to re-examine the ocular manifestations of the Behçet disease in the Maroccan population by the means of a consultation of Dermatology. Il should be noted that it is worse forecast because on the one hand of its frequent association to vascular and neurological affections and other share of the delay of consultation noted at the majority of our patients.

[Apert syndrome: a reported observation]. / Syndrome d'Apert: à propos d'une observation.

Apert syndrome is a type of acrocephalosyndactylia that belongs to the group of craniofacial synostoses. It is characterised by craniofacial dysmorphia and syndactyly of hands and feet. It is an uncommon affection that is often transmitted through an autosomal dominant mode, but sporadic cases are frequent. We report the case of a 2 months old baby brought by his parents to the paediatric emergencies for respiratory distress occurring within the framework of a polymalformative syndrome. The examination showed brachycephaly, bilateral exorbitism, syndactyly of the hands and feet and an anal fistula. Echocardiographic examination showed a cardiovascular malformation (interventricular communication), the whole suggestive of Apert syndrome. The child was admitted in intensive care during five days. He died following a respiratory infection. Through this observation the authors illustrate the clinical and evolutionary aspects as well as the therapeutic difficulties of this affection.

Effect of exposure to silica in inducing autoimmune hepatitis: an experimental animal-controlled study.

OBJECTIVE: The aim of this experimental study is to investigate the effect of subcutaneous and oral sodium silicate in inducing the autoimmune hepatitis. MATERIALS AND METHODS: Twelve Brown Norway rats were studied, six rats were challenged with Sodium Silicate and the rest were challenged with normal saline as a control group. At 14th week post-sodium silicate or normal saline exposure, the rats were sacrificed. Histopathological studies were conducted in six positive autoantibodies responding silicate group rats and then compared with an equal number of negative autoantibodies responding control rats. RESULTS: The liver findings from sodium silicate group of animals showed a histopathological reaction in 3/6 (50%) compared with 0/6 of the corresponding control saline group (p = 0.09). However, the absolute differences in the percentage between the two groups was 50%, the subcutaneous sodium silicate sub-group showed hepatic tissue response close to being statistically significant level (p = 0.05). CONCLUSIONS: After correlating the results with autoantibodies including serum antinuclear antibodies and anti ribo-nucleoprotein response of the same rats, it is concluded that sodium silicate play a role in inducing the autoimmune hepatitis in a genetically susceptible rat model.

[Involvement of the optic nerve in the course of Behcet's disease (presentation of 148 cases)]. / Les atteintes du nerf optique au cours de la maladie de Behçet (a propos de 148 cas).

Behçet's disease is a multisystemic vascularitis of still unknown etiopathogeny. Among 400 cases of Behçet disease, 148 cases presented an optic nerve involvement during a period of eight years (1992-1999). The goal of this work is to contribute to the study of optic nerve involvement in Behçet's disease. The involvement is higher in males (64%) with median age of 27 years. The involvement of the optic nerve is noticed in 37% of cases. It's isolated in 7% of cases and occurs on average after 5 years of evolution of the disease. The diagnosis is based on the clinical examination, visual field, visual evoked potentials, retinal angiography and neuro-imaging (TDM and/or MRI). It can be an acute anterior neuropathy, stasis papilledema complicating a benign intracranial hypertension, neuroretinitis or retrobulbar optic neuropathy. The extraocular systemic manifestations were dominated by oral aphthosis (94%), genital aphthosis (70%), joint manifestations (40%) and central nervous system involvement (32.4%). The prognosis is reserved, 44% of patients having vision lower than 1/10 in spite of treatment. The authors insist on the therapeutic emergency that this involvement represents and the interest to consider it in all patients having an unexplained visual loss.

[Ocular impairment during type II membranoproliferative glomerulonephritis]. / Atteinte oculaire au cours de la glomérulonéphrite membrano-proliférative type II.

Membranoproliferative glomerulonephritis type II (MPGN) is characterized by dense deposits within glomerular basal membrane and Bruch's membrane which result in retinal lesions similar to drusens. We observed a 50-year-old patient with chronic renal deficiency who developed central bilateral serous retinopathy with diffuse punctiforme yellow subretinal lesions. Ophthalmoscopic and angiographic aspects led to an MPGN type II diagnosis. Specific posterior segment lesions are described during MPGN type II. Dense deposits concerned both lamina densa of glomerular basal membrane and Bruch's membrane with choriocapillaris. The main ocular complications were central serous chorioretinopathy and choroidal neovascularization. We review the clinical and evolutive aspects of this disease.

[Ophthalmological involvement in Behçet disease. Apropos of 520 cases]. / L'atteinte ophtalmologique dans la maladie de Behçet. A propos de 520 cas.

PURPOSE: The aim of this paper is to compare our results with the literature and to discuss some therapeutical aspects of the disease. METHODS: This retrospective study concerned 520 cases of Behçet's disease followed by internal diseases department and ophthalmology service of U.H.C. Averroes (Casablanca, Morocco) during 10 years. RESULTS: There were 432 men (83%) and 88 women (17%). The mean age of the patients was 20 years. Ophthalmological involvements are found in 80%, bilateral in 60%. The disease occurred at the rate of 2 or 3 episodes a year in 5% of cases. Irreversible blindness was noted in 24.4% of cases, predominately panuveitis in 37% of cases, followed by anterior uveitis in 36.3% and retinal vasculitis in 37% of cases. Good results were obtained by a medical care with corticoids and chloraminophen in case of threatening blindness. CONCLUSION: Behçet's disease remains frequent in our country. It requires early diagnosis and steady ophthalmological surveillance in order to delay onset of blindness.

[Ocular and systemic complications of homocystinuria: a report of five cases]. / Complications oculaires et systémiques de l'homocystinurie: à propos de cinq cas.

Homocystinuria is an autosomal recessive disorder of methionine metabolism due to cystathionine B-synthetase deficiency. It is the second most common inborn error of amino acid metabolism after phenylketonuria. In addition to the eyes, the skeletal, central nervous and vascular systems are usually affected by homocystinuria. We report two family cases of two sisters and two brothers with homocystinuria revealed by lenticular dislocation into the anterior chamber, associated with mental and growth retardation, and an isolated case of homocystinuria revealed by poor vision with Marfan syndrome and mental retardation. They all underwent surgical lensectomy with anterior vitrectomy under general anesthesia with anaesthesic precautions to prevent vascular thrombosis. Ocular complications are common in patients with homocystinuria. Treatment must include dietary changes to reduce the incidence of ectopia lentis and mental retardation. Surgical treatment with modern microsurgical techniques should be considered in advanced ocular manifestations of homocystinuria.

[A case of a retinitis pigmentosa and asteroid hyalosis]. / Rétinopathie pigmentaire et hyalopathie astéroïde: à propos d'un cas.

Asteroid hyalosis is a rare degenerative condition of the vitreous. No causal relationship between retinitis pigmentosa and asteroid hyalosis has been established. We report a case of a 65-year-old male admitted for progressive hemeralopia. Visual acuities were 2/10e in the right eye and 4/10e in the left eye. Ophthalmic examination revealed a large number of asteroid and refringent bodies, a typical retinitis pigmentosa with a cystoid macular oedema confirmed by fluorescein angiography. Electrodiagnostic testing revealed an altered electroretinogram. Visual fields showed a typical generalized constriction. We discuss the clinical aspects and physiopathogenic mechanisms of this rare association through this case and other cases found in the literature.

[Weill Marchesani syndrome. Report of a case]. / Le syndrome de Weill Marchesani. A propos d'une observation.

Weill Marchesani syndrome is a congenital disease that combines microspherophakia and skeletal abnormalities. The authors report a 19-year-old male, born of a consanguineous marriage, with a progressive decrease in visual acuity. The general examination showed a squat look, dwarfism, muscle hypertrophy, short hands and feet, and joint stiffness. The ophthalmological examination showed that visual acuity was limited to hand motion in the right eye despite correction and no perception of light in the left eye. Intraocular pressure was 36 mmHg in the right eye and 40 mmHg in the left eye. The anterior chamber was irregular with iridophakodonesis and microspherophakia of both lenses. The zonula was partially ruptured in the right eye. The iridocorneal angle was narrow. Fundus eye examination showed a pale optic disc with an excavation of 9/10 on the right. In the left eye, the optic disc was totally excavated. Cardiovascular check-up revealed rheumatic aortic valvular cardiopathy. The therapy consisted of combined surgery: phakophagia with anterior vitrectomy plus trabeculectomy operated on the right eye. Weill Marchesani syndrome is a rare congenital affection with a recessive autosomal transmission. The visual prognosis is dominated by secondary glaucoma due to pupillary blockage by the mobile eye lens. This observation illustrates the seriousness of spontaneous progression in Weill Marchesani syndrome, justifying the necessity of lens extraction before the onset of complications.

[Bilateral Sturge-Weber-Krabbe syndrome. Apropos of a case]. / Syndrome de Sturge-Weber-Krabbe bilatéral. A propos d'un cas.

We report a case of bilateral Sturge-Weber-Krabbe syndrome. The patient was a child aged 2 years. He presented facial and jugal angioma, bilateral glaucoma and epilepsy. The cerebral scan showed calcifications characterised by their localisations and their aspects. Cure and prognosis of this disease are discussed.

[Cockayne's syndrome with unusual retinal involvement (report of one family)]. / Syndrome de Cockayne avec atteinte rétinienne inhabituelle (à propos j'une famille).

Cockayne's syndrome is a very rare autosomal recessive affection. Ocular involvement is an essential element for positive diagnosis; the retina shows a typical salt and pepper retinitis with optical atrophy. We report a family with four brothers who had Cockayne's syndrome with unusual retinal involvement. The patients' parents were first cousins. Ophthalmologic examination of the mother showed unilateral left pigmentary retinopathy localized in the peripapillary region. The father's ophthalmological examination was normal. The four brothers presented disharmonious dwarfism, cutaneous hyperpigmentation of skin areas exposed to sun with old-appearance of the skin, sensorineural deafness, kyphoscoliosis, a cerebellar syndrome and mental retardation. The ophthalmological examination showed hypermetropia in all four brothers and bilateral maculopathy with no papillary or vascular abnormalities. The electroretinogram was in favor of cone dystrophy. Computed tomography showed one case of calcifications of the basal ganglia and cerebral atrophy. The karyotypes of the four brothers and the mother were normal. We discuss the ocular symptoms and the etiopathogenesis of this syndrome.

[Gyrate atrophy of the choroid and retina: a case report]. / Atrophie gyrée choriorétinienne: a propos dún cas.

BACKGROUND: Gyrate atrophy of the retina and choroid is a rare disease, with recessive autosomal transmission, characterized by progressive chorioretinal atrophy causing blindness. It results from a congenital deficit in aminotransferase ornithine. CASE REPORT: The authors present the case of a young patient aged 15 years old consulting for a progressive fall of visual acuity with hemeralopia. Eye funduscopy showed regions of confluent rounded chorioretinal atrophy. The visual field, the electroretinogram and the retinal angiography were all alterated. Gyrate atrophy of the retina and choroid was evocated. DISCUSSION: It is a systemic and rare metabolic disease where ocular features are dominating. Differencial diagnosis are pigmentary retinopathies. Cataract and/or myopia are often joined to the retinal lesions. General signs could consist in muscular weakness, thin and rare hairs and mental retardation. More than; visual fields, electroretinogram, retinal angiography that are alterated; the plasmatic dosage of the ornithine is often high. The treatment is based on the dietetics with uncertain results. The genic therapy would be the treatment of future.

[Juvenile xanthogranuloma with intraocular involvement. A case report]. / Xanthogranulome juvénile avec localisation intra-oculaire. A propos dún cas.

Juvenile xanthogranuloma (JXG) is a rare and usually benign disease occurring in early childhood. It causes skin and deep seated lesions, notably in the eye. We report a case of JXG in the iris of a 9-month-old infant. Examination under general anesthesia revealed megalocornea, iris xanthogranuloma occupying the entire anterior chamber and high intraocular pressure. Skin lesions on the left lid and on the back were also found. Ocular hypertension resisted medical and surgical treatment. Cyclodestruction was necessary. The incidence of JXG is low (0.4%). The iris is the most frequently affected ocular tissue. Early diagnosis is necessary to avoid complications. Moreover, JXG can be associated in rare cases with neurofibromatosis or leukemia which must be systematically searched for.

[Goldenhar syndrome: apropos of a case]. / Syndrome de Goldenhar: a propos d'un cas.

We report a case of Goldenhar syndrom in thirty eight old woman who has been refered to us for peribulbar choristoma. The authors discuss the different ophthalmological, otolaryngological and general manifestation of this syndrom and the therapeutic modalities of the ocular anomalies.

Phenol electrooxidation on Fe-Co3O4 thin film electrodes in alkaline medium.

Fe-Co(3)O(4) thin film with different amounts of Fe have been used for the electro-oxidation of phenol in alkaline medium at room temperature. The electrodes were prepared by coating stainless steel supports with successive layers of the oxides, obtained by thermal decomposition at 673 K. The electrolysis was carried out at constant potential and the phenol disappearance, during the electrolysis, was monitored by UV-Vis absorbance measurements between 250 and 500 nm. After 3 h of electrolysis, the intermediates were identified by comparing the HPLC data and UV-Vis spectra to those from pure standards. The results indicate that the same oxidation products are formed on the different prepared electrodes, namely the decomposition products of phenol such as benzoquinone, hydroquinone and cathecol in basic medium. Simulated results show clearly the decrease of the amount of phenolic species with the electrolysis time. An enhancement of the phenol removal is observed with the presence of iron in the oxide. Under the operating conditions, around 30% of the initial phenol has been removed at ca. 3 h and the complete degradation is obtained after 54 h of electrolysis, when Fe-Co(3)O(4) thin film with 10% of Fe is used as anode.

First and recurrent pediatric urinary tract infections: do they have different antibiotic susceptibilities?

Antibiotic susceptibility studies in children rarely differentiate between first and recurrent urinary tract infections (UTI), although the latter, frequently associated with underlying urinary tract anomalies and antibiotic prophylaxis, are more likely to be associated with higher antibiotic resistance of uropathogens as a result. We investigated whether antibiotic resistance was different between first and recurrent UTIs in 250 episodes (145 first and 105 recurrent) in 154 children (2 months to 12 years of age) with culture proven UTI. According to univariate analysis, resistance to cefuroxime and gentamicin was significantly lower in recurrences. This association remained statistically significant in the multivariable analysis, with adjusted odds ratio OR of 0.8 for cefuroxime (p=0.04) and for gentamicin (p=0.003) after adjusting for the role of confounding factors. The risk of resistance to other antibiotics was otherwise similar for first and recurrent UTIs.