Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work.

The management of sporadic late-onset cerebellar ataxias represents a very heterogeneous group of patients and remains a challenge for neurologist in clinical practice. We aimed at describing the different causes of sporadic late-onset cerebellar ataxias that were diagnosed following standardized, exhaustive investigations and the population characteristics according to the aetiologies as well as at evaluating the relevance of these investigations. All patients consecutively referred to our centre due to sporadic, progressive cerebellar ataxia occurring after 40 years of age were included in the prospective, observational study. 80 patients were included over a 2 year period. A diagnosis was established for 52 patients (65%) corresponding to 18 distinct causes, the most frequent being cerebellar variant of multiple system atrophy (n = 29). The second most frequent cause was inherited diseases (including spinocerebellar ataxias, late-onset Friedreich's disease, SLC20A2 mutations, FXTAS, MELAS, and other mitochondrial diseases) (n = 9), followed by immune-mediated or other acquired causes. The group of patient without diagnosis showed a slower worsening of ataxia (p < 0.05) than patients with multiple system atrophy. Patients with later age at onset experienced faster progression of ataxia (p = 0.001) and more frequently parkinsonism (p < 0.05) than patients with earlier onset. Brain MRI, DaT scan, genetic analysis and to some extent muscle biopsy, thoracic-abdominal-pelvic tomodensitometry, and cerebrospinal fluid analysis were the most relevant investigations to explore sporadic late-onset cerebellar ataxia. Sporadic late-onset cerebellar ataxias should be exhaustively investigated to identify the underlying causes that are numerous, including inherited causes, but dominated by multiple system atrophy.

Gender and ethnicity modify the association between the CYP1A2 rs762551 polymorphism and habitual coffee intake: evidence from a meta-analysis.

The association between the single nucleotide polymorphism rs762551 in the cytochrome P450 family 1, subfamily A2 gene (CYP1A2) and caffeine consumption remains controversial. We conducted a meta-analysis to clarify this potential association. Twelve studies were selected from articles retrieved from the and Google Scholar databases, and the data were analyzed to determine the odds ratio (OR) of genotypes AA (conferring fast caffeine metabolism) vs AC + CC (conferring slow caffeine metabolism). Comparisons were made between 6161 high caffeine consumers and 3219 low caffeine consumers. The overall analysis showed a significant association between genotype AA and coffee intake  [OR = 1.13, 95% confidence interval (CI) = 1.03-1.24; Q = 19.23, P = 0.06; I2 = 43%]. In subgroup analyses, the association was also found within male, younger, and Caucasian subjects (OR = 1.21, 95%CI = 1.08- 1.35; OR = 1.71, 95%CI = 1.18-2.48; OR = 1.29, 95%CI = 1.12-1.49, respectively) but not in female, older, and Asian subjects (OR = 0.98, 95%CI = 0.83-1.15; OR = 0.83, 95%CI = 0.56-1.22; OR = 0.91, 95%CI = 0.71-1.17, respectively). Therefore, the rs762551 AA genotype may lead to higher coffee intake, especially in males, younger age groups, and individuals of Caucasian ethnicity. Our data highlight the need to test other CYP1A2 polymorphisms showing significance in genome-wide association studies to clarify the association with caffeine intake in the Asian population.

Mn-SOD 47 CC genotype in combination with high tea consumption may prevent complications in Tunisian type-2 diabetes.

Reactive oxygen species metabolizing enzymes may play an important role in the prevention of type-2 diabetes (T2D) complications. We analyzed the association between Cu/Zn-SOD +35 A/C, Mn-SOD T47C, and CAT -21 A/T gene polymorphisms and complications, in combination with tea consumption in Tunisian T2D. A sample of 366 T2D subjects was enrolled in this study. All participants were asked about tea consumption and frequency. Anthropometric, clinical, and routine biochemical characteristics were obtained from subjects' updated medical records. Malondialdehyde, as an early marker of lipid peroxidation, was measured in plasma samples. Urinary polyphenol derivatives (UPDs), as a marker of polyphenols intake, were assessed by the Folin-Ciocalteu assay. SODs and CAT genotypes were determined by conventional restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) methods. From all subjects, the results showed that in high tea consumers (>3 cups/day), the frequency of the Mn-SOD 47 CC genotype was significantly higher in T2D without complications compared with T2D with complications (P = 0.03; OR = 0.284; 95%CI = 0.086-0.939). However, no significant associations were observed with Cu/Zn-SOD +35 A/C or CAT -21 A/T genes polymorphisms. Additionally, the evaluation of UPDs showed that individuals carrying the Mn-SOD 47 CC genotype and consuming more than three cups of tea per day present significantly higher UPDs (P = 0.038). In conclusion, the Mn-SOD 47 C variant in combination with high tea consumption may provide protection against complications in T2D.

Bias toward a 1:1 ratio in primer-introduced restriction analysis PCR: mechanism and minimization.

Primer-introduced restriction analysis is widely used in molecular genetics. However, several studies have reported inconsistent data regarding sequencing, mainly among heterozygous samples. This discrepancy may be related to the bias towards a 1:1 ratio typically observed in heterozygous digestion products. In this study, we investigated the mechanism and minimization of this observed bias. Three mismatched polymerase chain reaction (PCR) models were analyzed by testing different PCR conditions and reaction mixtures. For EPHX1 gene rs1051740 single-nucleotide polymorphism PCR, DNA concentration, denaturation and elongation time, annealing temperature, and cycle number significantly influenced product ratios. For SERPINA1 gene PIMmalton deletion (ΔPhe52) and CHRNA3 gene rs1051730 single-nucleotide polymorphism PCRs, significant bias fluctuations were observed only for the annealing temperature and cycle number conditions. The relevance of these results to the amplification efficiency parameter is discussed. Rather than reducing the observed bias, our data provide evidence of a counterbalance for preferential amplification, depending on cycle number, annealing temperature, and amplification efficiency alteration. Our results are relevant for application to primer-introduced restriction analysis PCR assays.

Femtosecond and excimer laser-assisted endothelial keratoplasty (FELEK): a new technique of endothelial transplantation.

PURPOSE: To describe a new technique of endothelial keratoplasty (EK) that improves the quality of lamellar dissection of donor cornea. METHODS: We compared four techniques of donor cornea preparation for lamellar dissection on 8 donor corneas: mechanical dissection with a microkeratome, a single femtosecond laser lamellar cut, a double femtosecond laser lamellar cut and combined femtosecond laser lamellar dissection with excimer laser surface photoablation. The quality of the donor cornea interface was assessed and compared using scanning electron microscopy (SEM), and the most satisfactory technique was employed for EK on three patients. The postoperative anatomic results were analyzed with anterior segment spectral-domain optical coherence tomography (SD-OCT) and in vivo confocal microscopy (IVCM). RESULTS: The smoothest stromal interface was observed on SEM with the combined use of femtosecond laser dissection and excimer photoablation. The surgical procedures performed with donor cornea prepared by a combination of femtosecond and excimer lasers resulted in clear corneas after 1 month. SD-OCT showed good attachment of the endothelial graft and a hyperreflective interface. On IVCM, subepithelial haze, honeycomb-like activated keratocytes and needle-shaped particles were visible in the recipient corneal stroma as well as numerous hyperreflective particles on the donor-recipient interface. CONCLUSION: A new technique, femtosecond and excimer laser-assisted endothelial keratoplasty (FELEK), which refines the current limitations observed in Descemet-stripping automated endothelial keratoplasty (DSAEK), is described. Femtosecond laser dissection provides a thin and reproducible endothelial graft cut with a high level of safety and accuracy, while excimer photoablation yields a smooth, high-quality interface.

[Orbital cysticercosis mimicking a painful third nerve palsy]. / Cysticercose oculaire mimant une paralysie douloureuse du III.

We report an atypical case of cysticercosis of the left levator-superior rectus complex, mimicking a painful partial third nerve palsy. The patient presented with painful diplopia, with limitation of elevation, depression and adduction of the left eye, associated with a ptosis of the upper left eyelid. Magnetic resonance imaging revealed two cysts, located within the left levator-superior rectus complex, and nine parenchymal cysts located in both hemispheres of the brain. Antibody titers directed against Cysticercus cellulosae were elevated as confirmed by Elisa and Immunoblot. Diplopia and local inflammation resolved after albendazole and systemic steroid treatment. Surgical resection of the cysts was unnecessary.

Impact of HLA-G in the outcome of vitiligo in Tunisian patients.

BACKGROUND: The human leukocyte antigen (HLA) system in the skin coordinates the pigmentation and immune response and could be implicated in the pathogenesis of vitiligo. Human leukocyte antigen HLA-G is a nonclassic, major histocompatibility complex class I molecule expressed in the extravillous cytotrophoblast at the feto-maternal interface. It is known to protect the fetus from maternal cellular immunity. Analogically, it could be implicated in the pathogenesis of autoimmune diseases such as vitiligo. AIMS: To compare the expression of HLA-G between vitiligo patients and healthy controls. MATERIALS AND METHODS: In the present study, 22 vitiligo patients and 24 healthy controls were investigated to look for a possible correlation between HLA-G expression and this pathology. Expression of HLA-G in cutaneous biopsy specimens was investigated by immunohistochemical analysis. RESULTS: HLA-G was detected in the biopsy specimens of 3 (13%) out of 22 patients. This number was significantly higher in healthy controls 18 (75%) out of 24 as compared to vitiligo patients (P < 0.001). CONCLUSION: There is significant negative correlation between HLA-G expression and vitiligo. In our mind, upregulation of HLA-G expression in lesional skin could be local (superficial expression) or systemic (soluble HLA-G isoforms) compensation to restore normal pigmentation in lesions.

Comparative effects of the addition of meat from beef, chicken, mullet and hake to a bean seed ragout on iron metabolism and iron status in growing rats.

AIMS: The objective was to study the comparative effects of the addition of meat from beef, chicken, mullet and hake to a bean seed ragout (BSR) on iron metabolism and iron status in growing rats. METHODS: The iron metabolism and the iron status were investigated through the exploration of the total iron in the blood and the reserve of iron stored in the liver, spleen, intestine, heart and tibia. RESULTS: Our findings showed that the iron concentration in total blood significantly increased only in the BSR + beef group by 23% (p < 0.006) as compared to the control group (BSR). However, it significantly decreased in the BSR + chicken group by 19.3% (p < 0.002). The reserve of iron stored in the liver significantly increased in the BSR + beef and the BSR + hake groups by 69.5% (p < 0.003) and 160% (p < 2.5.10(-7)) respectively, as compared to the control group. The effect of hake was more pronounced than beef. However, in the BSR + chicken and the BSR + mullet groups, the reserve of iron stored in the liver did not significantly differ from the control group. The reserve of iron stored in the spleen increased significantly in all groups. The increase has reached 370% in the BSR + hake group (p < 1.10(-7)). In the intestine, the reserve of iron was significantly enhanced only in the group fed BSR + beef by 120% (p < 0.01). In contrast, this reserve was lower in the rats fed BSR + mullet than in the other groups, a reduction of 64% (p < 1.10(-5)) as compared to the control group. In the heart, iron concentration significantly increased between 36.5 and 50%, as compared to the control group. The iron stored in the tibia significantly increased only in the beef and the hake groups by 88% (p < 0.05) and 57.4% (p < 0.02) respectively. CONCLUSIONS: Our findings demonstrated that beef, chicken, mullet and hake did not have the same effect on iron metabolism and iron status in growing rats fed BSR diets. The rats fed BSR + beef have a better iron status than those fed BSR + hake, BSR + chicken or BSR + mullet in descending order.

[Nutritional intakes in a group of infants aged six to fourteen months]. / Apports nutritionnels chez un groupe de nourrissons ages de 6 a 14 mois.

PIP: Infant feeding poses many challenges, such as the rapid growth of the child and the immature nature of his or her body¿s systems. Foods that are poorly suited to such immaturity can lead to functional problems and even sometimes-serious allergies. Infant nutritional intake is also influenced by environmental, socioeconomic, and cultural factors. Of these factors, the eating habits of Tunisians, with a tendency to overconsume cereal- and sugar-based products, is of particular concern. The authors examined the nutritional intakes of 342 healthy infants aged 6-14 months from the Tunis region. The 180 boys and 162 girls were recruited in 5 primary health centers in Tunis, as well as from several suburbs. These centers were chosen at random from among the region¿s 144 centers. Energy intakes are close to those recommended for infants aged 8-14 months, yet low for those aged 6-8 months. Protein supply is about 2.5 g/kg weight/day. Lipids consumed cover more than 35% of the energy supply for infants aged 6-8 and 12-14 months. Glucidic consumption is slightly higher for babies aged 8-12 months who have an energy supply covered sometimes by more than 60% of glucid. With regard to key vitamin and mineral supplies, there are deficits in vitamins C and D, as well as in calcium. There is a good supply of iron. The observed disequilibria in nutritional intake are not alarming, but parents need to be aware of them in order to reduce the risks of deficiencies in vitamins and minerals.^ieng

Effect of tea decoction given to rats ad libitum for a relatively long time on body weight gains and iron, copper, zinc, magnesium concentrations in blood, liver, duodenum and spleen.

The aim of our study was to examine the influence of tea decoction given ad libitum for 15 days on body weight gains and on nonheme iron, copper, zinc and magnesium concentrations in the blood from a semisynthetic diet provided to healthy rats. We have also evaluated the reserves of these essential minerals in the liver, duodenum and spleen. Our findings indicate that the tea decoction significantly reduced the total body weight growth in the tea group as compared to the control group (p < 0.0001). The total body weight gains for the control and tea groups were 13.2 and 2.4%, respectively. On the other hand, our data show that the tea decoction significantly reduced nonheme iron concentration in the total blood by 31.8% (p < 0.001). Similarly, the reserve of iron stored in the liver and the duodenum declined more significantly by 57% (p < 1.10(-7) and 50.5% (p < 1.10(-6)). respectively. In contrast to the inhibitory effect on iron concentration and its stored reserve, tea decoction significantly increased zinc, copper and magnesium concentrations in the total blood. Zinc, copper and magnesium concentrations increased by 29.4 (p < 0.05), 69.0 (p < 0.001) and 48.7% (p < 0.001), respectively. Moreover, tea decoction treatment did not raise the reserve of zinc or copper significantly but it increased the reserve of magnesium stored in the liver (p < 0.05).

[Minerals in Tunisia's drinking water]. / Les minéraux dans l'eau de consommation en Tunisie.

We have made the physico-chemical analysis of drinking waters sampled from different Tunisian areas. The results obtained show that those waters are rich in mineral elements particularly those of the south of the country. Calcium and magnesium level in south drinking water is about three times higher than the maximum admitted concentration by WHO an EEC. The sodium, chloride and sulfate level is twice higher. The nitrate contents slightly exceeds the EEC guide level. The high mineralization observed needs a chemical quality improvement of those waters.

Effect of tea on iron absorption from the typical Tunisian meal 'couscous' fed to healthy rats.

Black and green tea decoctions are popular beverages in Tunisia, especially after eating. Our study was performed to examine the effect of graded amounts of black and green tea decoction prepared under realistic Tunisian conditions on nonheme iron absorption from a typical Tunisian meal, 'couscous', by extrinsic radioiron labeling in rats. Concentrations of 300, 200 and 100 micrograms/ml of black tea decreased dramatically nonheme iron bioavailability from couscous, but 50 micrograms/ml did not influence iron absorption. The inhibition of nonheme iron from couscous varied from 36 to 61% with black tea and 30.5% with green tea. Taken together, our findings show that the tea decoction in Tunisia has a great inhibitory power and may constitute an important factor for the development of iron deficiency anemia throughout Tunisia.

[Use of polyglactin 910 mesh with collagen in the prevention of pharyngostomes]. / Utilisation du filet de polyglactine 910 avec collagène dans la prévention des pharyngostomes.

The use of the collagen-coated Polyglactine 910 mesh is proposed as a preventive treatment of pharyngostomes in extensive pharyngolaryngectomies for necrotized hypopharyngeal tumors. The good results obtained in this series of 12 cases may be explained by a distribution of stress in the pharyngeal sutures, associated to a decrease in the stress exerted on the tight mucosal suture, as well as a sliding-rotating effect of the pharyngeal muscular suture, which is thus displaced relative to the plane of the mucosal suture. This original technique seems to be fully effective during the first two postoperative weeks, and may greatly help in the prevention of the dangerous pharyngostomes during the postoperative period following extensive pharyngeal resections.

Bioavailability of iron from a traditional Tunisian meal with chickpeas fed to healthy rats.

The influence of a diet of couscous with chickpeas, a traditional Tunisian meal, or one providing iron as ferrous sulfate, on the utilization of 59Fe was evaluated in studies with rats. The iron content of the couscous and chickpea preparation was 30 mg/kg dry weight. There was no difference in the relative absorption of iron from ferrous sulfate or couscous with chickpeas, suggesting that iron from this preparation may be a good dietary source of nonheme iron for rats. Couscous and chickpeas consumption in Tunisia are estimated at 13.3 and 3.2 kg per capita/year, respectively. Our results in rats indicate that these foods could contribute a large proportion of an individual's iron requirement. We conclude that the plant foods, especially the chickpeas, can be excellent sources of dietary-available iron.

Metabolic effects of acarbose in young healthy men.

To explore the long-term metabolic effects of acarbose in man, 6 healthy men (25 +/- 2 years; BMI: 21.6 +/- 2.7) were fed a controlled diet in a metabolic ward for 7 consecutive weeks. After an initial 3-week period to ensure a metabolic steady-state, they received 300 mg/d of acarbose (100 mg before each meal) for the remaining 4 weeks. Stool and urine collections were made over 7 d on weeks 3 and 7. Faecal excretion of water, nitrogen, carbohydrate, fat, zinc, magnesium, copper, chromium, iron, calcium and phosphorus and urinary excretion of nitrogen, urea and calcium were measured. In addition, fasting and postprandial blood glucose and insulin levels, as well as fasting triglycerides, total cholesterol, apolipoproteins (Apo) A-I, A-II, and B, zinc and copper, vitamins A, B1, B2, B6, C, and E concentrations were measured before and at the end of the acarbose period. Weight, food consumption, and water balance were not modified by acarbose. Faecal nitrogen excretion increased significantly but the nitrogen balance remained positive. Faecal excretion of carbohydrate, fat, iron and chromium were significantly increased by acarbose. Apos A-I and A-II decreased significantly. Plasma levels of vitamin B6 increased and vitamin A concentrations decreased with acarbose. This study provides new insights into the metabolic effects of acarbose with respect to nitrogen, mineral and vitamin metabolism.