Successful treatment of Fusarium keratitis with cornea transplantation and topical and systemic voriconazole

A case of invasive Fusarium keratitis in a previously healthy male patient was treated successfully with cornea transplantation and systemic and topical voriconazole after treatment failure with topical amphotericin B and systemic itraconazole. Topical voriconazole was well tolerated, and, in conjunction with the oral administration, it resulted in a high level of the drug in the anterior chamber of the eye (which was 160% of the plasma drug level).     

Glucose regulates proinsulin and prosomatostatin but not proglucagon messenger ribonucleic acid levels in rat pancreatic islets

Insulin and glucagon are the major hormones involved in the control of fuel metabolism and particularly of glucose homeostasis; in turn, nutrients tightly regulate insulin and glucagon secretion from the islets of Langerhans. Nutrients have clearly been shown to affect insulin secretion, as well as insulin biosynthesis and proinsulin gene expression; by contrast, the effects of nutrients on proglucagon gene expression have not been studied. We have investigated the effect of glucose, arginine, and palmitate on glucagon release, glucagon cell content, and proglucagon messenger RNA (mRNA) levels from isolated rat islets in 24-h incubations. We report here that concentrations of glucose that clearly regulate insulin and somatostatin release as well as proinsulin and prosomatostatin mRNA levels, do not significantly affect glucagon release, glucagon cell content or proglucagon mRNA levels. In addition, though both 10 mM arginine and 1 mM palmitate strongly stimulated glucagon release, they did not affect proglucagon mRNA levels. We conclude that, in contrast to insulin and somatostatin, glucose does not affect glucagon release and proglucagon mRNA levels, and arginine and palmitate do not coordinately regulate glucagon release and proglucagon mRNA levels.     

Diagnostic biologique de l'allergie respiratoire : évaluation du réactif Vidas Stallergy genévrier dans l'allergie au cyprès

Cypress allergy is an important health issue in Mediterranean areas but its diagnosis is still difficult in some cases. The fact that cypress and juniper tree pollens share a number of allergens, together with the higher allergenic protein contents of the latter have recently led allergologists to use juniper pollen extracts while testing for cypress allergy. In the present study we have evaluated a new Vidas bioMérieux reagent, Stallergy ST6, designed for the detection and quantification of anti-juniper serum IgE, when applied to cypress allergy diagnosis. In thirty-one Respiratory Diseases Department outpatients clinically suspected of cypress pollen allergy, Stallergy ST6 results were compared to those of prick tests and of serum IgE quantification using the CAP System (Phadia). There is a good class concordance between IgE results yielded by the two methods. We conclude that Stallergy ST6 provides a sensitive and specific reagent for cypress allergy diagnosis.     

A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease

Glycogen-storage disease type II, also named Pompe disease, is caused by the deficiency of the enzyme acid alpha-glucosidase, which originates lysosomal glycogen accumulation leading to progressive neuromuscular damage. Early-onset Pompe disease shows a debilitating and frequently fulminating course. To date, more than 300 mutations have been described; the majority of them are unique to each affected individual. Most early-onset phenotypes are associated with frameshift mutations leading to a truncated alpha-glucosidase protein with loss of function. Founder effects are responsible from many cases from few highprevalence world regions. Herein we described two apparently unrelated cases affected with classical early-onset Pompe disease, both pertaining to a small region from Central Mexico (the State of San Luis Potosí), the same novel homozygous frameshift mutation at gene GAA (c.1987delC) was demonstrated in both cases. This GAA gene deletion implies a change of glutamine to serine at codon 663, and a new reading frame that ends after 33 base pairs, which leads to the translation of a truncated protein. This report contributes to widen the knowledge on the effect of pathogenic mutations in Pompe disease. Here we postulate the existence of a founder effect.Key words: Early-onset Pompe disease, Acid maltase deficiency, Founder effectGlycogen storage disease type II (Online Mendelian Inheritance in Man, OMIM, accession number 232300), also called Pompe disease, was described by Johannes C. Pompe in 1932. The disorder is caused by a deficiency of the enzyme acid alpha-glucosidase (acid maltase, EC 3.2.1.20, Swiss) which originates lysosomal glycogen accumulation leading to lysosomal swelling, cellular damage and dysfunction (1-3). Affected individuals develop progressive neuromuscular damage, showing a debilitating and frequently fulminating course on the classical, early-onset type of the disease. Other main findings are hypertrophic cardiomyopathy, hypotonia, hepatomegaly, macroglossia, feeding problems and breath difficulty. Currently it is recognized that the late form of Pompe disease has a very variable phenotype that can be confused with a wide range of neuromuscular, pulmonary and cardiovascular diseases with mild, moderate or severe symptoms that present either alone or combined (4-6).Pompe disease has an autosomal recessive inheritance and it is caused by more than 300 mutations that occur all over the gene coding for acid alpha-glucosidase (GAA) located at locus 17q25.2q25.3. The molecular phenomenon responsible of the different types of clinical expression occur by the presence of two either homozygous or compound heterozygous pathogenic mutations in early-onset Pompe cases, whereas late-onset Pompe have one variant and one pathogenic mutation (7). The majority of disease-causing mutations are unique; nonetheless, relatively frequent mutations have been described in certain populations with a possible founder effect traced from the original mutated carrier to the newly occurring cases. Affected cases have been described worldwide with a few high-prevalence regions like South-Africa, Taiwan and Holland (1, 8-10).Herein, we described two unrelated cases affected with classical early-onset Pompe disease, both pertaining to the same small Mexican region, with the same novel homozygous frameshift mutation at gene GAA (c.1987delC), identified by complete gene sequencing.     

The development of word recognition,sentence comprehension,word spelling,and vocabulary in children with deafness: A longitudinal study

BackgroundOnly a small number of longitudinal studies have been conducted to assess the literacy skills of children with hearing impairment. The results of these studies are inconsistent with regard to the importance of phonology in reading acquisition as is the case in studies with hearing children. Colin, Magnan, Ecalle, and Leybaert (2007) revealed the important role of early phonological skills and the contribution of the factor of age of exposure to Cued Speech (CS: a manual system intended to resolve the ambiguities inherent to speechreading) to subsequent reading acquisition (from kindergarten to first grade) in children with deafness. The aim of the present paper is twofold: (1) to confirm the role of early exposure to CS in the development of the linguistic skills necessary in order to learn reading and writing in second grade; (2) to reveal the possible existence of common factors other than CS that may influence literacy performances and explain the inter-individual difference within groups of children with hearing impairment.MethodEighteen 6-year-old hearing-impaired and 18 hearing children of the same chronological age were tested from kindergarten to second grade. The children with deafness had either been exposed to CS at an early age, at home and before kindergarten (early-CS group), or had first been exposed to it when they entered kindergarten (late-CS group) or first grade (beginner-CS group). Children were given implicit and explicit phonological tasks, silent reading tasks (word recognition and sentence comprehension), word spelling, and vocabulary tasks.ResultsChildren in the early-CS group outperformed those of the late-CS and beginner-CS groups in phonological tasks from first grade to second grade. They became better readers and better spellers than those from the late-CS group and the beginner-CS group. Their performances did not differ from those of hearing children in any of the tasks except for the receptive vocabulary test. Thus early exposure to CS seems to permit the development of linguistic skills necessary in order to learn reading and writing. The possible contribution of other factors to the acquisition of literacy skills by children with hearing impairment will be discussed.