Three years old child with juvenile hyaline fibromatosis presenting with rectal bleeding.

Juvenile hyaline fibromatosis is a rare inherited autosomal recessive disorder which is caused by mutation of CMG2 gene on chromosome 4q21. Mutation of this gene protein can disrupt the formation of basement membranes. Hyalinization of various body tissues like skin, joints, and bones leads to development of skin papules, gingival hyperplasia, osteolytic lesions in bones, and joint contractures. We had a case of a 3 years old female child with Juvenile Hyaline Fibromatosis who presented with rectal bleeding. She had a bleeding mucocutaneous lesion in anal canal along with papullonodular lesions on the face, gingival hypertrophy and flexion contractures of small joints of hands and feet. Excision of the anal lesion revealed histopathological features of Juvenile Hyaline Fibromatosis.

Numerical study on human cornea and modified multiparametric correction equation for Goldmann applanation tonometer.

Glaucoma, a chronic eye disease, is quoted to be a second leading cause of blindness with 66.8 million people suspected to be victimised by the same in year 2000 (Morrison, 2003), and is caused due to an elevated intraocular pressure (IOP). Goldmann Applanation tonometer (GAT), a gold standard (Organization, 2001), suffers from inefficacies to measure intra-ocular pressure (IOP) independent of the biomechanical properties of an eye. Thus, the purpose of this paper is to study the importance of wide range of corneal parameters and to propose a multiparametric correction equation for GAT based on a numerically simulated comprehensive finite element model (Dohadwala et al., 1998; Morrison, 2003; Organization, 2001). Towards this end, with the help of numerical model, the parameters considered in correction equation proposed elsewhere (Elsheikh et al., 2011) were extended to include combined influence of central corneal thickness (CCT), central anterior curvature (R), peripheral corneal thickness (PCT), corneal asphericity (Pa), age, measured IOP itself and, was separately studied for role played by corneal support orientation (θ°) in this aspect. Findings indicate that for a wide range of parameters considered, while increased age is related with gain in corneal stiffness, the maximum (average) individual effects of variations in PCT, Pa, CCT, age and θ° on IOPG were estimated at 0.25mmHg/100µ of PCT, 0.073mmHg/0.1 of Pa, 1.9mmHg/100µ of CCT, 24.3%/decade relative of IOPT and 0.95mmHg/5° increase in θ°. The multiparametric correction equation has been modified accordingly. The GAT correction equation can consider the combined effect of PCT, Pa, CCT, and age on IOPG. Separately the non-linear effect of θ° on IOPG cannot be ignored for reasons of precision.