Glycogen storage disease type I in Tunisia: an epidemiological analysis.

OBJECTIVE: Analysis of epidemiological data concerning GSD I in Tunisia. SUBJECTS AND METHODS: All the cases diagnosed as GSD I between 1992 and 2005 in a paediatric department recruiting all the metabolic diseases referred from the North of Tunisia were reviewed. Individual data (sex, socioeconomic and educational background, geographic origins, insurance coverage) were collected and pedigrees were reconstituted. RESULTS: Twenty-two cases (9 boys and 13 girls from 20 homes) were identified. Fourteen belonged to 11 families originating from the North of Tunisia; ten of them are still alive. Both parents in 4 homes (21%) and one parent in 9 homes (47%) were illiterate. Most of the homes (60%) had a low income and 45% comprised at least 3 children. Only 7 homes (35%) had health insurance. Pedigrees indicated 44 infant deaths and at least 10 other cases fulfilling the clinical features of GSD I but not diagnosed. CONCLUSION: The paediatric prevalence of GSD I in the North of Tunisia can be estimated to 7.93 cases per one million inhabitants and its incidence to 1/100,000 births. However, it is likely to be more frequent because of underreporting or underdiagnosis leading to precocious deaths.

[Malassezia fungal blepharitis: a case report]. / Blépharite mycosique à Malassezia: à propos d'un cas.

PURPOSE: Blepharitis is a very common disorder but the role of certain mycoses in the etiopathogenesis of blepharitis remains controversial. OBSERVATION: We report the case of a 29-year-old man presenting with bilateral redness and intense itching of the edge of the eyelid. Slit-lamp examination showed vasodilation of the vessels of the edge of the eyelid associated with seborrhea and a sticky yellowish substance at the roots of the eyelashes. When the substance dried and fell, microulcerations were seen at the base of the eyelids, characteristic of follicular-seborrheic blepharitis. Otherwise the ophthalmological examination was normal. Treatment with eye drops (antibiotics, antiseptics, corticoids, antihistamines) was tried several times. The blepharoconjunctivitis regressed during these treatments without totally disappearing, recurring after the treatment was discontinued. Bacteriological and fungal exams were conducted, showing numerous Malassezia furfur spores and hyphae. Given that there was no antifungal eye drop preparation on the market, topical ketoconazole (Nizoral) was prescribed. Two weeks later, the condition had cleared, with no recurrence after 5 months of follow-up. DISCUSSION: Malassezia is a saprophyte species that may play a role in certain cases of chronic blepharitis, either through a reaction of intolerance and hypersensitivity or occasional proliferation. Treatment consists in eradicating the causal fungus using an antifungal agent associated with symptomatic treatment. We stress that fungal exams should be conducted whenever blepharitis recurs.

[Contusive retinal detachment: a retrospective review of 48 patients]. / Les décollements de rétine post contusifs.

PURPOSE: Analysis of the epidemiological, clinical and therapeutic characteristics of retinal detachment after ocular blunt trauma. MATERIAL AND METHODS: We retrospectively reviewed 48 patients with isolated retinal detachment after ocular blunt trauma, studying their epidemiological characteristics (age, sex and trauma circumstances), their clinic details and the surgical techniques used. RESULTS: The average age of our patients was 39.3 Years; most were male (75%). Assault and home accidents were the most common cause of ocular trauma (83.2%). Total retinal detachment was noted in 47.9%. Of the retinal breaks found, dialysis at the ora serrata was observed in 22%, atrophic holes in 33.9%, retinal breaks in 40.6% and giant tears in 4.2%. Most of the breaks were situated at the lower temporal quadrant. Forty one out of the 48 patients were operated on, with surgical treatment consisting in episcleral surgery in 38 cases and vitreoretinal surgery in three cases. Complete anatomical success was achieved in 92.7%. CONCLUSION: This survey shows that the prognosis of retinal detachment after ocular blunt trauma remains favorable given the young age and the absence of advanced vitreoretinal proliferation, but this should not affect the importance of prevention.

Sequential activation of constitutive and inducible nitric oxide synthase (NOS) in rat cerebellar granule neurons by pseudomonas fluorescens and invasive behaviour of the bacteria.

Previous studies have shown that Pseudomonas fluorescens and its lipopolysaccharide (LPS) exert dose-related cytotoxic effects on neurons and glial cells. In the present work, we investigated the time course effect of P. fluorescens MF37 and its LPS on cultured rat cerebellar granule neurons. The kinetics of binding of P. fluorescens to cerebellar granule neurons is rapid and reaches a mean of 3 bacteria/cell after 5 h. As demonstrated by measurement of the concentration of nitrite in the culture medium, P. fluorescens induces a rapid stimulation (3 h) of the nitric oxide synthase (NOS) activity of the cells. In contrast, LPS extracted from P. fluorescens requires a long lag phase (24 h) before observation of an activation of NOS. Measurement of the membrane resting potential of granule neurons showed that within 3 h of incubation there was no difference of effect between the action of P. fluorescens and that of its endotoxin. Two complementary approaches allowed to demonstrate that P. fluorescens MF37 presents a rapid invasive behaviour suggesting a mobilisation of calcium in its early steps of action. The present study reveals that P. fluorescens induces the sequential activation of a constitutive calcium-dependent NOS and that of an inducible NOS activated by LPS. Our results also suggest that in P. fluorescens cytotoxicity and invasion are not mutually exclusive events.

[Digital tuberculous revealed by trauma]. / Une tuberculose digitale révélée par un traumatisme.

Tuberculous dactylitis is an uncommon condition which is particularly difficult to differentiate from other lesions, particularly tumors. Diagnosis must be confirmed by histology and/or bacteriology studies. We report the case of a 64-year-old diabetic woman who consulted for a painful tumefaction on her fourth finger of the left hand which had developed after minimal trauma. The x-ray of the hand visualized multiple bony defects involving the second phalanx of the fourth finger and a fracture. Pathology examination of a biopsy specimen revealed granulomatous osteitis with typical caseous necrosis. The clinical signs and radiographic images resolved after anti-tuberculosis treatment.

[Sarcoid-like necrotizing granulomatosis. A case report]. / La granulomatose nécrosante sarcoïdosique. A propos d'une observation.

Necrotizing sarcoid granulomatosis is a rare granulomatous pulmonary angeitis that was first described by Liebow in 1973. We report the case of a 36-year-old woman who was admitted for exploration of chest pain, cough and fever at 39 degrees which had progressed for more than 2 months. Chest X-ray showed several inconstant pulmonary opacities. The physical examination, the radiographic and endoscopic aspects were non-specific. The diagnosis was made only by open lung biopsy which showed histological findings of necrotizing sarcoid granulomatosis. The opacities disappeared with no recurrence spontaneously at one year.

Pseudomonas fluorescens as a potential pathogen: adherence to nerve cells.

In order to determine the infectious potential of the psychrotrophic bacterium Pseudomonas fluorescens, a species closely related to the opportunistic pathogen P. aeruginosa, we investigated the binding activity of this bacterium on primary cultures of rat neonate cortical neurons and glial cells, adrenal paraneurons and NG108-15 neuroblastoma cells. Incubated at concentrations of 10(6) and 10(8) CFU/mL, P. fluorescens MF37 exhibited a high binding activity on neurons in the same range as that of P. aeruginosa PAO1. A significant, but lower, adherence of P. fluorescens was also detected on glial cells and adrenal paraneurons. In contrast, when P. fluorescens MF37 or P. aeruginosa PAO1 were incubated with neuroblastoma cells, no binding was observed. In neurons, the association of P. fluorescens with the plasma membrane occurred both on neurites and cell body. Leakage of the cytoplasmic content was frequently noted. Studies performed using the fluorescent probe Hoechst 33258 revealed that in 10% of neurons, P. fluorescens induced the appearance of densely stained clusters of DNA that was typical of an early step of apoptosis. In glial cells exposed to P. fluorescens, marked changes in the morphology of the nucleus, including fragmentation into lobular structures and aggregation of DNA, were also reminiscent of the existence of a possible apoptotic mechanism. Taken together, these results reveal that P. fluorescens can bind to nerve cells and affect their physiology and, in agreement with recent clinical observations, suggest that P. fluorescens could behave as a pathogen.

Cardiopericardial hydatid cysts.

Cardiac hydatic cyst is a rare parasitic disease. We reported 45 patients with cardiac hydatid cysts; 33 of the 45 had a primitive, unique cardiac cyst. Altogether, 18 patients of our series were asymptomatic, and 27 patients complained of symptoms (dyspnea, chest pain, palpitations). In 11 cases the cyst was revealed by an acute complication; 3 of the 11 had pulmonary metastatic hydatidosis. The diagnosis was based on a series of test results in which hydatid serology and imaging (echocardiography, computed tomography, magnetic resonance imaging) played a predominant role. Cystopericystectomy is the gold standard procedure but is sometimes unsuitable for particular sites. In that case, a conservative approach (partial pericystectomy) is mandatory to preserve organ function. The operative mortality rate is 5.5%. Two pericardial recurrences were reported during follow-up.