Clear lens extraction with intraocular lens implantation for hyperopia

PURPOSE: To analyze the results of clear lens extraction (CLE) with posterior chamber intraocular lens (IOL) implantation to correct hyperopia. SETTING: Eye Research Center and Dr. Agarwal's Eye Hospital, Chennai, India. METHODS: This prospective study comprised 20 hyperopic eyes of 12 patients between 19 and 50 years who had CLE with posterior chamber IOL implantation. Five patients had peripheral iridectomy during CLE as the angles were occludable. RESULTS: The mean hyperopic spherical equivalent refraction was +6.66 diopters (D) +/- 2.17 (SD) (range +4.75 to +13.00 D). The IOL power was calculated using the Holladay 2 formula. The mean follow-up was 16.96 months (range 6 to 35 months).The mean postoperative uncorrected visual acuity was 0.45 +/- 0.25 (range 0.10 to 1.00), a mean improvement of 3 Snellen lines from preoperatively. The mean postoperative best corrected visual acuity (BCVA) was 0.63 +/- 0.30, a mean improvement of 1 Snellen line. Three patients gained 2 lines of BCVA and 2 patients, 1 line. One patient lost 1 line of BCVA. Seventy percent of patients were within +/-0.50 D of the intended refraction. CONCLUSION: The results indicate that CLE with posterior chamber IOL implantation is safe, predictable, and effective.     

Lead, genetic susceptibility, and risk of adult brain tumors.

BACKGROUND: Although few etiologic factors for brain tumors have been identified, limited data suggest that lead may increase the risk of brain tumors, particularly meningioma. The ALAD G177C polymorphism affects the toxicokinetics of lead and may confer genetic susceptibility to adverse effects of lead exposure. METHODS: We examined occupational exposure to lead and risk of brain tumors in a multisite, hospital-based, case-control study of 489 patients with glioma, 197 with meningioma, and 799 non-cancer controls frequency matched on hospital, age, sex, race/ethnicity, and residential proximity to hospital. ALAD genotype was assessed by a Taqman assay for 355 glioma patients, 151 meningioma patients, and 505 controls. Exposure to lead was estimated using a rigorous questionnaire-based exposure assessment strategy incorporating lead measurement and other occupational data abstracted from published articles and reports. RESULTS: Increased risk of meningioma with occupational lead exposure (estimated by odds ratios and 95% confidence intervals) was most apparent in individuals with the ALAD2 variant allele, for whom risk increased from 1.1 (0.3-4.5) to 5.6 (0.7-45.5) and 12.8 (1.4-120.8) for estimated cumulative lead exposures of 1 to 49 microg/m3-y, 50 to 99 microg/m3-y, and >or=100 microg/m3-y, respectively, compared with unexposed individuals (two-sided P trend = 0.06). This relationship became stronger after excluding occupational lead exposures characterized by a low confidence level or occurring in the 10 years before meningioma diagnosis. Occupational lead exposure was not associated with glioma risk. CONCLUSIONS: Although our results indicate that lead may be implicated in meningioma risk in genetically susceptible individuals, these results need to be interpreted with caution given the small numbers of exposed cases with a variant genotype.     

Multipoint incremental motor unit number estimation versus amyotrophic lateral sclerosis functional rating scale and the medical research council sum score as an outcome measure in amyotrophic lateral sclerosis

Introduction:

Monitoring the disease progression in amyotrophic lateral sclerosis (ALS) is a challenge due to different rates of progression between patients. Besides clinical methods to monitor disease progression, such as the ALS functional rating scale (ALSFRS) and the medical research council (MRC) sum score, quantitative methods like motor unit number estimation (MUNE) are of interest.

Objective:

The objective of the present study is to evaluate the rate of progression in ALS using multipoint incremental MUNE and to compare MUNE, ALSFRS and MRC sum score at baseline and at 6 months for progression of the disease.

Materials and Methods:

Multipoint incremental MUNE using median nerve, ALS-FRS and MRC sum score was carried out in 29 ALS patients at baseline and then at 6 months.

Results:

Of the 29 ALS patients studied, the mean MUNE at baseline was 21.80 (standard deviation [SD]: 19.46, range 4-73), 15.9 in the spinal onset group (SD: 14.60) and 30.16 (SD: 22.89) in the bulbar onset group. Spinal onset patients had 74.02% of baseline MUNE value while bulbar onset patients had only 24.74% baseline value MUNE at 6 months follow-up (Unpaired t-test, P = 0.001). ALSFRS and MRC sum score showed statistically significant decline (P < 0.001) at 6 months follow-up. MUNE had the highest sensitivity for progression of the disease when compared to the ALS FRS and MRC sum score.

Conclusion:

Multipoint incremental MUNE is a valuable tool for outcome measure in ALS and other diseases characterized by motor unit loss. The rate of decline of multipoint incremental MUNE is more sensitive than that of MRC sum score and ALSFRS-R, when expressed as the percentage change from baseline.     

Diabetic retinopathy: a preventable scourge

In recent years, the India has witnessed a rapidly exploding epidemic of diabetes mellitus. It would not be hyperbolic to state that diabetes mellitus is the mother of morbidity of all vital organs. Diabetic retinopathy and its complications cause considerable ocular morbidity as well. With effective management strategies visual loss due to the disease can be controlled and further dissemination of the disease could be prevented. The key to proper management of diabetic retinopathy includes prophylaxis by controlling blood sugar, periodical screening of retina for early detection, prompt referral for prevention of progression by appropriate laser photocoagulation, surgical correction of various anatomical abnormalities, low vision aids and rehabilitative measures in patients with severe visual loss. Howerver, the awareness level of visual consequences of this widely prevalent disease even amongst diabetics is lacking.     

The clonal relationships between pre‐cancer and cancer revealed by ultra‐deep sequencing

The study of the relationships between pre‐cancer and cancer and identification of early driver mutations is becoming increasingly important as the value of molecular markers of early disease and personalised drug targets is recognized, especially now the extent of clonal heterogeneity in fully invasive disease is being realized. It has been assumed that pre‐cancerous lesions exhibit a fairly passive progression to invasive disease; the degree to which they, too, are heterogeneous is unknown. We performed ultra‐deep sequencing of thousands of selected mutations, together with copy number analysis, from multiple, matched pre‐invasive lesions, primary tumours and metastases from five patients with oral cancer, some with multiple primary tumours presenting either synchronously or metachronously, totalling 75 samples. This allowed the clonal relationships between the samples to be observed for each patient. We expose for the first time the unexpected variety and complexity of the relationships between this group of oral dysplasias and their associated carcinomas and, ultimately, the diversity of processes by which tumours are initiated, spread and metastasize. Instead of a series of genomic precursors of their adjacent invasive disease, we have shown dysplasia to be a distinct dynamic entity, refuting the belief that pre‐cancer and invasive tumours with a close spatial relationship always have linearly related genomes. We show that oral pre‐cancer exhibits considerable subclonal heterogeneity in its own right, that mutational changes in pre‐cancer do not predict the onset of invasion, and that the genomic pathway to invasion is neither unified nor predictable. Sequence data from this study have been deposited in the European Nucleotide Archive, Accession No. PRJEB6588. Copyright © 2015 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.     

Congenital Arteriovenous Malformation Between the Subclavian Artery and Superior Vena Cava Presenting in Neonatal Heart Failure

Congenital arteriovenous malformations are a well-described cause of neonatal heart failure. Fistulous connections are typically intrahepatic or intracranial. We present a case of a neonate with an intrathoracic arteriovenous malformation between the subclavian artery and superior vena cava resulting in florid neonatal heart failure. This unusual fistulous connection has only rarely been reported in the literature, and in those reports, it has not resulted in neonatal heart failure.