Late Infantile Neuronal Ceroid Lipofuscinosis in a Tunisian Boy

The classical form of late infantile neuronal ceroid lipofuscinosis is a childhood hereditary neurodegenerative disease usually fatal in the first decade of life. We report a two-year-old Tunisian boy who presented this form of ceroid lipofuscinosis. A febrile seizure was the presenting symptom without psychomotor delay. Magnetic resonance imaging of the brain showed mild cerebellar atrophy. Fundus oculi showed bilateral posterior polar cataract, which is a new finding in the classical form of late infantile neuronal ceroid lipofuscinosis. A homozygous R208X mutation was identified in the NLC2 gene. On follow up, this patient presented with myoclonic epilepsy and regression of acquired milestones.     

Aicardi syndrome with favorable outcome]

BACKGROUND: Aicardi syndrome is usually associated with a very poor outcome. CASE REPORT: We report a particular case of Aicardi syndrome characterised by a partial agenesis of the corpus callosum associated with an arachnoidal interhemispheric cystic formation, and by a complete control of epilepsy and a favorable outcome regarding visual and psychomotor performances. CONCLUSION: A better prognosis could be expected in Aicardi syndrome when spasms occur lately and are not preceded by partial seizures, when agenesis of corpus callosum is partial and especially when chorioretinal lacunae are small, isolated, few and spare the macula.     

Cutaneous tuberculosis. A review of 38 cases

INTRODUCTION: Cutaneous tuberculosis (CT) represents only 2% of extra-pulmonary locations. This form should be studied because it may indicate visceral forms of tuberculosis. MATERIAL AND PROCEDURES: Retrospective study of patients affected by CT, conducted in the dermatology department of Charles Nicolle Hospital from 1991 to 2002. Tuberculids have been excluded. RESULTS: We have studied 38 cases of CT subdivided on 8 lupus tuberculosis, fourteen scrofuloderma, two warty tuberculosis, one association between lupus tuberculosis and scrofuloderma, twelve BCG specific reactions and one unclassifiable form. The average age of our patients was 43 years. The sex ratio (H/F) was 1,91. Concomitant visceral tuberculosis was discovered in 9 patients. All cases were confirmed by anatomopathologic examination and half of them had a caseous necrosis. CONCLUSIONS: The incidence of cutaneous tuberculosis seems to be increasing in our country: from 3 per 1000 new consultants in our dermatology department between 1970 and 1977 to 0.44 per 1000 new consultants from 1991 to 2002. Our study points out a male predominance in cutaneous tuberculosis. Clinical forms are still dominated by scrofuloderma which is a multibacillary form.     

Tumeur myofibroblastique inflammatoire de la vessie

Myofibroblastic inflammatory tumor is considered as an intermediate neoplasm according to the WHO classification. It can occur in different organs: lung, pancreas, mesentery and uterus. The localization in the bladder is unusual. We report a case of a 38-year-old patient who presented with hematuria. Echography showed a 3 cm tissular structure of the bladder. Histological analysis and immunohistochemistry concluded to the diagnosis of myofibroblastic tumor of the bladder. The present work will give a general view of the myofibroblastic tumor, and will review its differential diagnosis.     

In vitro activities of new 2-substituted quinolines against Leishmania donovani

A series of 9 quinolines and 18 styrylquinolines was evaluated for the drugs' in vitro antileishmanial activities and cytotoxicities. The 7-aroylstyrylquinoline scaffold appeared to be the most promising one, with the most interesting compound, no. 35, exhibiting a 50% inhibitory concentration (IC(50)) of 1.2 μM and a selectivity index value of 121.5. Compound 35 was 10-fold and 8-fold more active than miltefosine and sitamaquine, the reference compounds, with selectivity indexes 607-fold and 60-fold higher, respectively.     

Infliximab in ulcerative colitis

Infliximab is effective for treatment of moderate-to-severe UC and is recommended for patients who have had an inadequate response to medical therapy or who are intolerant of or do not desire to take the potential risk of using specific agents including immunomodulators (cyclosporine A, azathioprine, or 6-mercaptopurine), corticosteroids, and, potentially, mesalamine. Future trials are needed to assess the efficacy of infliximab with immunomodulators to see if additional benefit is achieved so that the risk-benefit ratio is positive. Based on the favorable efficacy of infliximab for UC therapy, the ground work has been established for evaluating infliximab and addressing some of the many unanswered questions and also for assessing other anti-TNF agents and streamlining the anti-TNG antibody to improve efficacy, reduce side effects, and ease administration.     

Coupling reaction and complex formation for the spectrophotometric determination of physiologically active catecholamines in bulk,pharmaceutical preparations and urine samples of schizophrenic patients

A simple and sensitive spectrophotometric method for the determination of three catecholamines namely dopamine hydrochloride (DO.HCl), dobutamine hydrochloride (DOB.HCl) and vanillymandelic acid (VMA), in both pure form or in their commercially available pharmaceutical formulations or urine samples of schizopherinic patients is described. The method is based on the reaction of diazotized 4‐aminoantipyrine (4‐AAP) with catecholamines in a basic medium (pH = 10–11) to yield pink‐coloured products having absorption maxima at 500, 505 and 480 nm for DO.HCl, VMA and DOB.HCl, respectively. Before carrying out Beer's Law, different experimental conditions, such as time, temperature, sequence of addition, and pH are optimized. The coloured species obeyed Beer's Law in the range of 47.4–417.2, 59.45–445.9 and 67.57–405.4 mg/L for DO.HCl, VMA and DOB.HCl, respectively. The molar absorptivity values as obtained from Beer's Law data were found to be 2.979 × 10⁴, 4.39 × 10⁴ and 1.036 × 10⁴ L mol^?1 cm^?1, while Sandell's sensitivity values were observed to be 3 × 10^?3, 4.4 × 10^?3 and 1.3 × 10^?3 µg cm^2? for DO.HCl, VMA and DOB.HCl, respectively. Common excipients did not interfere with the proposed method. The results of the proposed method compare favourably with those of official methods. The proposed method offers simplicity, reliability, rapidity, and accuracy compared to the existing methods. Copyright © 2010 John Wiley & Sons, Ltd.     

Brucella endocardititis: clinical particularities and therapeutic modalities

Brucella infective endocarditis is an uncommon, but serious complication of brucellosis. The aortic valve is the most commonly affected cardiac valve. Due to characteristics of the infection, medical therapy alone is not sufficient in treating the disease and best results are obtained with surgery combination. We describe a case of Brucella endocarditis involving the aortic valve suspected in front of the clinical data and the results of serology, confirmed by the culture of the native valves. In association with the medical treatment, management valve replacement lead to a favorable medium-term evolution.