Stickler syndrome in Pierre-Robin sequence prenatal ultrasonographic diagnosis and postnatal therapy: two cases report.

The Pierre-Robin Syndrome (PRS) is a rare congenital abnormality, with an approximately 1/30,000 estimated rate, characterized by the presence of the combination of mandibular hypoplasia (micrognathia or small jaw), glossoptosis (retrusion of the tongue into the pharyngeal airway) and, often, a posterior cleft of the secondary palate. It may be an isolated occurrence or part of a more complex syndrome and it is associated with long-term respiratory, nutritional, and developmental difficulties. Stickler syndrome (SS) is a rare autosomal dominant connective tissue disorder estimated to affect approximately 1/7500 newborns. It is diagnosed clinically and, at present, there is no consensus on a minimal clinical diagnostic criterion. The most frequent diagnosis in patients with syndromic Pierre Robin sequence is Stickler syndrome, which may be complicated by congenital high myopia and substantial risk of retinal detachment. However, cases of Stickler syndrome with probable visual complications are rarely identified among this group of patients by members of the cleft team. The patient had an acute unilateral hydrops, with a monolateral keratoconus. The ocular abnormalities included: severe myopia, abnormalities of the vitreous, and high risk of retinal detachment (with subsequent blindness). We report two extremely rare cases of prenatal diagnosis of PRS and SS, prematurely identified by prenatal ultrasonography and successively managed by oculists ophthalmogists.

Two modes of aggregation of artificial H1-DNA complexes depending on the rate of decrease of ionic strength.

The properties of H1-DNA artificial complexes, formed at different rates of decrease of NaCl concentration from 0.9 to 0.15 M, were investigated. It was found that two distinct processes, both depending on the rate of the concentration decrease, lead to the formation of aggregates differing in: the ability to form sediments, the distribution of sedimentation constants, the initial turbidity and its changes during trypsin and DNAase I digestion, and the H1/DNA ratio in the sediments. The accessibility of DNA in the complexes to DNAase I and the properties of nonaccessible DNA fragments led us to the conclusion that, at the H1/DNA ratio equal 0.2, the H1 molecules are clustered along the DNA chain independently of the rate of complex formation.

Efficacy and safety of the intravitreal treatment of diabetic macular edema with pegaptanib: a 12-month follow-up.

AIM: This observational study was performed to evaluate the efficacy and safety of intra-vitreal injections of pegaptanib during a 12-month follow-up period. PATIENTS AND METHODS: Forty eyes (20 patients) affected by diabetic macular edema were monitored. Twenty were subjected to treatment, and 20 were controls. The treatment involved a cycle of three intravitreal injections of pegaptanib (0.3 mg every 6 weeks), at the end of which treated patients were submitted to a monthly follow-up for a period of 12 months. The aim was to evaluate the clinical condition of the eye after therapy and gauge the efficacy of the long-term use of this drug. Specific criteria were used to measure the efficacy and safety of pegaptanib. Regarding efficacy, we considered the following: an average improvement in the power of vision, or visual acuity, of →10 letters (2 lines), equivalent to an average logMAR score of →0.2, and a reduction in the central macular thickness of →250 µm. Regarding safety, we considered the occurrence of undesired eye and systemic side effects correlated to either the drug itself or the injection procedure. RESULTS: The logMAR score for the measurement of visual acuity at T3 (third intra-vitreal injection at week 13) with respect to T0 decreased from 0.7 ± 0.277 to 0.445 ± 0.216, suggesting an improvement, while the mean Early Treatment Diabetic Retinopathy Study (ETDRS) score increased from 25.75 ± 13.046 to 34.300 ± 11.770 letters. The central macular thickness was reduced from the initial value of 746.95 ± 293.601 to 334.050 ± 93.997 µm. In seven controls, we registered a worsening both in terms of visual acuity and macular thickness in some eyes, justifying a continuation of therapy in eight eyes of the control group. CONCLUSIONS: Pegaptanib proved to be efficacious and safe for the treatment of diabetic macular edema throughout the 12-month followup. To evaluate its long-term efficacy, further studies are required with larger numbers of patients and longer observational follow-up periods.

Testing the effectiveness of intravitreal ranibizumab during 12 months of follow-up in venous occlusion treatment.

AIMS: To determine the effectiveness and safety of treatment of intravitreal Ranibizumab for Central Retinal Vein Occlusion. PATIENTS AND METHODS: This non-randomized observational clinical study was comprised of a round of therapy with three IVI. Twenty eyes affected by CRVO were recruited. The average age was 65.06 +/- 15 years and criterion for inclusion: age >18 years, best Corrected Visual Acuity (BCVA) from 5 to 40 letters and macular edema with thickness greater than 275 micrometer. The criteria used for reinjection were: CMT> 150 micrometer, ETDRS <10 letters and LogMAR <0.2. The statistical analysis for continuous variables (ETDRS, logMar and CMT) was conducted calculating median and range (min-max), since these variables, due to sample size, were not normally distributed.Time trends of these variables were plotted with boxplot and differences. Events between T0 and T12 were assessed using the analysis of variance (ANOVA) for repeated measurements and the F test (Pillai's trace). The statistical significance was set at p <=0.05. RESULTS: All of the patients showed improvement. In fact, the ETDRS went from a median of 20.00 to 28.50, LogMAR went from a median of 0.75 to 0.55 and the values for CMT went from a median of 556.00 micrometer to 390.00 micrometer. The drug reaches maximum effectiveness after two months of therapy, with T2 remaining constant from the third injection at T3 until the end of 12 months at T12. CONCLUSIONS: The results produced by our study indicate that Ranibizumab is a valid treatment for CRVO.

A pilot clinical study on the effectiveness of mesoglycan against diabetic retinopathy.

PURPOSE: A double-blind placebo-controlled study on 68 patients suffering by Diabetic Retinopathy was aimed in order to evaluate the effectiveness of Mesoglycan in this pathology. This drug is particularly interested in treatment of disorders of microcirculation. MATERIALS AND METHODS: The two treatments were randomly assigned to each patient, using a 100 mg/day dosage of Mesoglycan, and both treatments were prescribed for 6 months. The efficacy of both treatments was based on clinical and instrumental check. RESULTS: The clinical results that emerged in the group treated with Mesoglycan were excellent, although observations are on a limited number of patients appears a direct action of Mesoglycan on the endothelium retinal blood vessels and circulation. Indeed, in the observed patients, was detected a significant reduction of microhemorrhages, microaneurysms and exudates. The same cannot be said of the placebo group; none of patients of that group showed signs of clinical improvement at the end of the study. CONCLUSION: Data emerging from our study show a direct action of Mesoglycan on endothelium retinal blood vessels and circulation, as we observed in patients we found a significant reduction in the number of microhemorrhages, microaneurysms and exudates. This action can be explained by the characteristics of drug as antithrombotic profibrinolytic and anti-edema, already found in vitro and experimentally. We conclude that our preliminary study showed an encouraging clinical efficacy, together with excellent tolerability, and therefore our objective has been met, which was to verify the existence of the prerequisites for a larger clinical study.