Epidermolytic hyperkeratosis with a rare digital contracture

A sixteen year-old male patient with no history of consanguinity in the family, reported with patchy, thickened lichenified plaques over the whole body. Some areas had normal skin while some were Blaschkoid lesions. The child had delayed milestones along with hypogonadism. Digital contracture with palmoplantar keratoderma was present. Histopathology showed characteristic vacuolar degeneration of the upper epidermis and suprabasilar keratinocytes with hyperkeratosis.     

A comparison of global indices between the Medmont Automated Perimeter and the Humphrey Field Analyzer

BACKGROUND: Two commonly used perimeters in Australia are the Humphrey Field Analyzer II (HFA) and the Medmont Automated Perimeter (MAP). Each device describes the visual field in terms of numerical values called global indices; however, these values are not interchangeable between devices. This study was designed to directly compare the global indices of HFA and MAP visual fields. METHODS: 63 subjects who had suspected glaucoma, ocular hypertension or glaucoma, or were normal controls were recruited selectively. Each patient was tested with the MAP and HFA. Global indices were then compared between tests. These included mean deviation (MD) and pattern standard deviation (PSD) from the HFA and average defect (AD) and pattern defect (PD) from the MAP. RESULTS: The MD and PSD results were strongly correlated with the AD and PD results, respectively. The relationship between them could be described in terms of two polynomial equations: AD = 0.94+1.31(MD)+0.02(MD)(2) and PD = 2.21(PSD)-0.05(PSD)(2)-0.006. These non-linear relationships may be the result of differences in testing method (test stimulus spectrum, number of testing locations or background luminance) or differences in the way each global index was calculated. CONCLUSION: The AD and PD results obtained from the MAP may be substituted for the MD and PSD results from the HFA after appropriate conversion.     

Genomic profiling of breast cancer

Genome study provides significant changes in the advancement of molecular diagnosis and treatment in Breast cancer. Several recent critical advances and high‐throughput techniques identified the genomic trouble and dramatically accelerated the pace of research in preventing and curing this malignancy. Tumor‐suppressor genes, Proto‐oncogenes, DNA‐repair genes, Carcinogen‐metabolism genes are critically involved in progression of breast cancer. We reviewed imperative finding in breast genetics, ongoing work to segregate further susceptible genes, and preliminary studies on molecular profiling. J. Surg. Oncol. 2009;99:386–392. © 2009 Wiley‐Liss, Inc.     

Successful cochlear implantation in a child with Keratosis, Icthiosis and Deafness (KID) Syndrome and Dandy-Walker malformation

Keratosis, Icthiosis, and Deafness (KID) Syndrome is a rare congenital disorder associated with dominant connexin 26 mutations, affecting epidermis, corneal epithelium, and inner ear. Given eventual visual impairment, cochlear implantation is an important consideration despite an increased risk of wound complications. We present a child with KID Syndrome and bilateral profound sensorineural hearing loss associated with a novel heterozygous missense D50A connexin 26 mutation (c.149A > C). Imaging revealed mild cochlear malformation and Dandy-Walker malformation. She received a cochlear implant at the age of 12 months, using a small incision approach. Following an immediate minor wound infection, implantation has been successful without further complication over 4 years.     

Experimental evaluation of safety and efficacy of plasma-treated poly-ε-caprolactone membrane as a substitute for human amniotic membrane in treating corneal epithelial defects in rabbit eyes

Purpose:To evaluate biocompatibility and safety of plasma-treated poly-ε-caprolactone (pPCL) membrane compared to the human amniotic membrane in the healing of corneal epithelial defects in an experimental model.Methods:This is a prospective, randomized animal study including 12 rabbits. Circular epithelial injury measuring 6 mm in diameter was induced over the central cornea of one eye in twelve rabbits. The rabbits were randomized into two groups; in group A, the defect was covered with human amniotic membrane, while in group B, an artificial membrane made of bio-polymer plasma-treated poly-ε-caprolactone was grafted. Six rabbits were euthanized after 1 month and the other six after 3 months and the corneal epithelium was evaluated histopathologically and with immunohistochemistry.Results:Light microscopy of the corneal tissue performed after 1 month and 3 months demonstrated similar findings with no significant complications in either group. Immunohistochemistry with anti-CK-3 antibody showed characteristic corneal phenotype in the healed epithelium. In eyes grafted with pPCL membrane, epithelial healing as estimated by a decrease in size of the defect was significantly better than the group treated with the human amniotic membrane at all time periods monitored (P < 0.05), except day 1 (P = 0.83). The percentage reduction in the size of the epithelial defect was also significantly more in the pPCL membrane group as compared to the human amniotic membrane at all time periods (P < 0.05 at all observations) post-implantation except day 1 (P = 0.73).Conclusion:Plasma-treated poly-ε-caprolactone membrane is safe, biocompatible, and effective in the healing of corneal epithelial defects in rabbits.