Role of AS-OCT in Managing Corneal Disorders.

Optical coherence tomography (OCT) is analogous to ultrasound biometry in the cross sectional imaging of ocular tissues. Development of current devices with deeper penetration and higher resolution has made it popular tool in clinics for visualization of anterior segment structures. In this review, the authors discussed the application of AS-OCT for diagnosis and management of various corneal and ocular surface disorders.

Sex ratio trajectory in mouse.

Skewing of the sex ratio towards males occurs in humans. The possible explanation for excess male births could be a preference for Y-bearing sperm at fertilization and/or selective elimination of female embryos during pregnancy. In this study, we have tested the sex ratio in the preimplantation embryo (2-3 cells stage/closest possible primary sex ratio), the post-implantation embryo (day E7.

Eosinophilic pneumonia: a case of daptomycin induced lung injury.

Eosinophilic pneumonia is a category of lung diseases characterized by an increased number of eosinophils in alveolar spaces and interstitium. Acute cases are often caused by fungal infections, parasites, drugs or toxins and can present with respiratory failure. Daptomycin has been identified as one of the rare causes of acute eosinophilic pneumonia.

Independent impact of plasma homocysteine levels on neurological outcome following head injury.

Homocysteine (tHcy) has been hardly studied among patients with head injury. This study was to evaluate whether there is any independent impact of tHcy levels on neurological outcome following head injury in a multivariate model. Patients admitted within 24 h of injury were included in the study, along with 20 age- and gender-matched controls.

Fluorescence in situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes.

Background & Objectives: Microdeletion syndromes are characterized by small (<5 Mb) chromosomal deletions in which one or more genes are involved. These are frequently associated with multiple congenital anomalies. The phenotype is the result of haploinsufficiency of genes in the critical interval.

The Sertoli Cell Only Syndrome and Glaucoma in a Sex - Determining Region Y (SRY) Positive XX Infertile Male.

The XX male syndrome is a rare genetic disorder. The phenotype is variable; it ranges from a severe impairment of the external genitalia to a normal male phenotype with infertility. It generally results from an unequal crossing over between the short arms of the sex chromosomes (X and Y).

Rapid detection of chromosome X, Y, 13, 18, and 21 aneuploidies by primed in situ labeling/synthesis technique.

Aims And Objective: Primed in situ labeling/synthesis (PRINS) technique is an alternative to fluorescent in situ hybridization for chromosome analysis. This study was designed to evaluate the application of PRINS for rapid diagnosis of common chromosomal aneuploidy.

Materials And Methods: We have carried out PRINS using centromere specific oligonucleotide primers for chromosome X, Y, 13, 18 and 21 on lymphocyte metaphase and interphase cells spread.

Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size.

We report on a pair of male monozygotic twins with 22q11.2 microdeletion, discordant phenotype and discordant deletion size. The second twin had findings suggestive of DiGeorge syndrome, while the first twin had milder anomalies without any cardiac malformation.

Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India.

Background: The 22q11.2 microdeletion syndrome is a common condition that is associated with cardiac as well as extra-cardiac manifestations. Its prevalence and manifestations from north India has not been reported.