Surgical management of macular holes: results using gas tamponade alone, or in combination with autologous platelet concentrate, or transforming growth factor β2

BACKGROUND—Vitrectomy and gas tamponade has become a recognised technique for the treatment of macular holes. In an attempt to improve the anatomic and visual success of the procedure, various adjunctive therapies—cytokines, serum, and platelets—have been employed. A consecutive series of 85 eyes which underwent macular hole surgery using gas tamponade alone, or gas tamponade with either the cytokine transforming growth factor β2 (TGF-β2) or autologous platelet concentrate is reported.
METHODS—Twenty eyes had vitrectomy and 20% SF₆ gas tamponade; 15 had vitrectomy, 20% SF₆ gas, and TGF-β2; 50 had vitrectomy, 16% C₃F₈ gas tamponade, and 0.1 ml of autologous platelet concentrate prepared during the procedure.
RESULTS—Anatomic success occurred in 86% of eyes, with 96% of the platelet treated group achieving closure of the macular hole. Visual acuity improved by two lines or more in 65% of the SF₆ only group, 33% of those treated with TGF-β2, and in 74% of the platelet treated group. In the platelet treated group 40% achieved 6/12 or better and 62% achieved 6/18 or better. The best visual results were obtained in stage 2 holes.
CONCLUSION—Vitrectomy for macular holes is often of benefit and patients may recover good visual acuity, especially early in the disease process. The procedure has a number of serious complications, and the postoperative posturing requirement is difficult. Patients need to be informed of such concerns before surgery.

     

The pharmacist's role in improving the treatment of erectile dysfunction and its underlying causes

Erectile dysfunction (ED), which worldwide is likely to affect in excess of 300 million men by 2025, is often either untreated or insufficiently treated. It can be a prelude to other serious illnesses and may be a cause or consequence of depression in affected individuals. Among men younger than 60 years of age, ED can be a robust early-stage indicator of vascular disease and type 2 diabetes. Untreated or inadequately treated ED can also be a sign of poor communication between health professionals and service users of all ages. Improved treatment of ED could cost-effectively prevent premature deaths and avoidable morbidity. The extension of community pharmacy?based health care would enable more men living with ED to safely access effective medications, along with appropriate diagnostic services and support for beneficial lifestyle changes such as smoking cessation in conveniently accessible settings. The task of introducing improved methods of affordably addressing problems linked to ED exemplifies the strategic challenges now facing health care systems globally. Promoting professionally supported self-care in pharmacies has the potential to meet the needs of aging populations in progressively more effective ways.     

Changes in skinfold thickness and waist circumference after 12 and 24 months resulting from the NHF-NRG In Balance-project

Background  

More knowledge is needed regarding the effectiveness of weight gain prevention programmes. The present study tested the 12-and 24-month effectiveness of the 'Netherlands Research programme weight Gain prevention' (NHF-NRG)-In Balance-project, a worksite-based intervention aimed at the prevention of weight gain.     

Whole exome sequencing combined with linkage analysis identifies a novel 3?bp deletion in NR5A1

Disorders of sex development (DSDs) encompass a broad spectrum of conditions affecting the development of the gonads and genitalia. The underlying causes for DSDs include gain or loss of function variants in genes responsible for gonad development or steroidogenesis. Most patients with DSD have an unknown genetic etiology and cannot be given an accurate diagnosis. We used whole exome capture and massively parallel sequencing to analyse a large family with 46,XY DSD and 46,XX premature ovarian insufficiency. In addition, we used a recently developed method for linkage analysis using genotypes extracted from the MPS data. This approach identified a unique linkage peak on chromosome 9 and a novel, 3 bp, in-frame deletion in exon six of NR5A1 (steroidogenic factor-1 or SF1) in all affected individuals. We confirmed that the variant disrupts the SF1 protein and its ability to bind and regulate downstream genes. NR5A1 has key roles at multiple points in gonad development and steroidogenic pathways. The variant described here affects the function of SF1 in early testis development and later ovarian function, ultimately leading to the 46,XY DSD and 46,XX premature ovarian insufficiency phenotypes, respectively. This study shows that even at low coverage, whole exome sequencing, when combined with linkage analysis, can be a powerful tool to identify rapidly the disease-causing variant in large pedigrees.     

Withdrawal of anticonvulsant drugs in patients free of seizures for two years. A prospective study

We discontinued anticonvulsant drugs in 92 patients who had been free of seizures during two years of treatment with a single drug. All the patients had epilepsy that had previously been untreated, and had been randomly assigned to receive carbamazepine, phenytoin, or sodium valproate. Thirty-one patients relapsed, and 61 remained free of seizures. The mean duration of the follow-up in the patients remaining free of seizures was 35 months (range, 6 to 62). There was no significant difference between the relapse rate among adults (35 percent) and that among children (31 percent). Our results suggest that the number of seizures a patient had before control was achieved, the number of drugs tried as single-drug therapy, and the type of treatment withdrawn all influenced the outcome. Among the various types of seizures, complex partial seizures with secondary generalization carried the worst prognosis. In comparison, the risk of relapse was 65 percent lower in patients with generalized seizures and 97 percent lower in patients with complex or simple partial seizures in the absence of secondary generalized attacks. Among the four electroencephalographic classes, class 4 (abnormal before treatment and unchanged before withdrawal) carried the worst prognosis. The risk of relapse was 94 to 99 percent lower in patients in the other three electroencephalographic classes. Among the three anticonvulsants, withdrawal of sodium valproate carried the worst prognosis. In comparison, the odds of relapsing were 28 percent lower after withdrawal of phenytoin and 85 percent lower after withdrawal of carbamazepine. We conclude that withdrawal of anticonvulsant medication should be considered in patients free of seizures for two years.