Scleral shape and its correlation with corneal parameters in keratoconus.

PURPOSE: To assess the correlation of the scleral shape and corneal tomographic parameters in keratoconus. METHODS: Twenty eyes of 15 keratoconus patients with no previous specialty lens wear or ocular surgery were included in this study. Corneal imaging was obtained with the Pentacam HR and three-dimensional (3D) corneoscleral maps were acquired using the Eye Surface Profiler, ESP. Sagittal height was calculated at the central corneal level (annulus of 0-4 mm radius), peripheral cornea (annulus 4-6 mm radius) and sclera (annulus 6-8 mm radius) using ESP maps and Pentacam HR (exclusively for the central cornea). The flattest and steepest regions of each annulus and the circumferential scleral asymmetry were calculated based on custom-made software. The Pearson correlation coefficient (r) was used to evaluate the correlation between corneal parameters as measured by Pentacam HR and scleral asymmetry. RESULTS: Anterior corneal parameters, such as flattest and steepest keratometry, were found to be correlated with scleral asymmetry in keratoconus (all r>0.5, p < 0.05). In contrast, anterior astigmatism showed poor correlation with the level of scleral irregularity (r=-0.11; p = 0.32). Other disease-specific parameters pertaining to the posterior corneal curvature and corneal thickness were not correlated with scleral asymmetry. The steepest regions of the central cornea, peripheral cornea, and sclera tended to share a common angle (r = 0.92; p < 0.001 for central cornea compared to sclera). CONCLUSION: Anterior corneal parameters measured by corneal imaging are associated with the level of scleral asymmetry and the orientation of the steepest area of the sclera in eyes with keratoconus.

Iodine-lithium-alpha-dextrin (ILαD) against Staphylococcus aureus skin infections: a comparative study of in-vitro bactericidal activity and cytotoxicity between ILαD and povidone-iodine.

BACKGROUND: As antimicrobial resistance continues to increase, revisiting old antimicrobial agents, modified to enhance efficacy and safety, becomes important. Iodine has been widely used for more than 150 years as a wound and skin disinfectant; it is an effective broad range bactericide and does not promote the development of resistant strains. The most important iodine-based agent is povidone-iodine (PVP-I) which provides excellent antibacterial activity. However, its safety profile has been questioned. AIM: To evaluate the in-vitro antibacterial efficacy and kinetic properties of a novel iodine-based compound, iodine lithium alpha-dextrin (ILαD), against Staphylococcus aureus, and compare the in-vitro cytotoxicity profiles of ILαD and PVP-I. METHODS: A minimum inhibitory concentration (MIC) microbroth dilution method was performed against 12 meticillin-resistant (MRSA) and eight meticillin-susceptible (MSSA) S. aureus clinical isolates using ILαD and PVP-I. Time-kill and post-antibiotic effect studies of ILαD provided rate-of-kill information. MTT cytotoxicity assays were performed using three cell lines, treated with MIC doses of ILαD and PVP-I. FINDINGS: The MIC values of ILαD and PVP-I against the MRSA strains were 125 mg/L and 31.25 mg/L, respectively. Time-kill and post-antibiotic effect studies of ILαD revealed a log10 reduction factor of 3 within 8 h of exposure at a 2 × MIC dose; the post-antibiotic effect was calculated at 5±0.3h. Cell viability was affected slightly at the MIC dose of ILαD, while the MIC dose of PVP-I exerted a strong cell growth inhibitory effect of 90-95%. CONCLUSIONS: ILαD could be a promising solution against staphylococcal infections as it is effective, does not promote the development of resistant strains, and in-vitro testing indicates that it may be safer than PVP-I. Further studies are justified to determine whether ILαD overcomes the clinical limitations of PVP-I.

Challenges for the genetic screening in dysferlin deficiency--report of an instructive case and review of the literature.

The homozygous or compound heterozygous mutation of the alleles of DYSF gene causes dysferlinopathy resulting in limb girdle muscular dystrophy Type 2B (LGMD 2B) or Miyoshi myopathy. However, patients with only 1 (heterozygous) mutation on 1 allele are increasingly recognized. Based on the Leiden database (www.dmd.nl) among 257 different mutations resulting in dysferlin-deficient muscular dystrophy, pathogenic mutations were detected only on 1 allele in 45 cases, while the exons of the other allele did not show any pathological alterations. The relatively high number of these so-called heterozygous cases raises the question if present routine molecular techniques are sufficient alone for confirming the diagnosis of dysferlin deficiency. In fact, the heterogenous genetic background of the disease makes it impossible to make the correct diagnosis without Western blot of the muscle dysferlin. This paper presents the clinical, myopathological and molecular genetic results of a 30-year-old male with dysferlinopathy as an instructive case. The cDNA sequencing of the dysferlin gene revealed a single C5302T heterozygous mutation resulting in Arg1768Trp exchange. The paper highlights the importance of the protein analysis in the diagnosis of dysferlin deficiency, discusses the difficulties of the complete genomic analysis of the dysferlin gene alterations and the possible etiopathogenetic role of the noncoding DNA sequence of the dysferlin gene in dysferlin deficiencies.

Marked phenotypic variation in a family with a new myelin protein zero mutation.

Myelin protein zero (MPZ) is a member of the immunoglobulin gene superfamily, which has a role in myelin compaction. MPZ gene mutations cause mostly demyelinating neuropathies of the Charcot-Marie-Tooth 1B type (CMT1B), but axonal CMT have been described as well. There is a broad spectrum of phenotypic manifestation of neuropathies caused by MPZ mutations. Some mutations of MPZ cause severe early-onset neuropathies such as Dejerine-Sottas disease, while others cause the classical CMT phenotype with normal early milestones but development of disability during the first two decades of life. We describe a family in which five members of three consecutive generations had a heterozygous mutation in nucleotide position 143 with a T-C transition in exon 2 of the MPZ gene. The resulting substitution of Leu48 with proline has not been previously described. The age of onset of symptoms varied from 8 months to 41 years. The marked variation of the age of disease onset and clinical phenotype in this one family, related to the same MPZ mutation, suggests that in addition to the type and intragenic location of the mutation, other putative modifying gene(s) are regulating MPZ gene expression, mRNA stability and posttranslational protein modification and may have an important effect on the ultimate clinical phenotype.

Limitations of Folin assays of foliar phenolics in ecological studies.

We examined the response of the widely used Folin-Denis assay to purified tannins from 16 woody plant species and to three commercial polyphenol preparations often used as standards. The reagent's response to these chemical mixtures differed significantly among sources (tree species, commercial preparations) and sampling dates, even though the mixtures contained the same total dry weight of tannins. Response to commercial standards usually did not resemble response to actual plant tannin and produced estimates that differed from actual concentrations by as much as twofold. Species-based and seasonal differences in polyphenol composition are evidently responsible for these variable results. Reagents that depend on redox reactions, such as the Folin-Denis, do not produce reliable absolute or relative quantification of phenolics when different species or samples from different dates are compared, and use of commercial standards does not resolve this problem.

SIDS: counseling parents to reduce the risk.

Although the cause or causes of sudden infant death syndrome (SIDS) remain unknown, the incidence of SIDS is on the decline in the United States and other countries. This decline has been accomplished largely through public education campaigns informing parents about several important factors associated with an increased risk of SIDS. These factors are prone and side infant sleeping positions, exposure of infants to cigarette smoke and potentially hazardous sleeping environments. Risk-reduction measures such as placing healthy infants to sleep in the supine position, avoiding passive smoke exposure both before and after birth and optimizing crib safety are beginning to lower the SIDS rate in this country. Through patient education, family physicians can further reduce the incidence of the number one cause of death in infants one week to one year old.

[Thalamic dementia]. / Die "Thalamus-Demenz".

Report with complementary clinical examinations and detailed neuropathological findings of a case of subacute progressing "thalamic dementia", interpreted as combined systemic degeneration of the dorsal and medial thalamic nuclei. For the development of the EEG changes, which were followed from beginning of the disease, a slowly advancing reduction of the function of the meso-diencephalic activating system proved responsible. The inferior olives were symmetrically atrophied and the fasciculus tegmenti centralis was on both sides completely degenerated. It is to be considered that the inferior olives are directly subordinated to the medial thalamic nuclei by the way of the fasciculus tegmenti centralis. In the cerebellum nerve cell groups and fiber bundles, which are closely connected with the reticular system, are degenerated. The systemic medial degenerations of the thalamus belong to the abiotrophies in the sense of Gowers original conception.