Improving the benefits of HIV testing and referrals in large household surveys through active linkages to care: lessons and recommendations from the Namibia population-based HIV impact assessment (NAMPHIA), 2017.

In household-based surveys that include rapid HIV testing services (HTS), passive referral systems that give HIV-positive participants information about how and where to access ART but minimal follow-up support from survey staff may result in suboptimal linkage. In the 2017 Namibia Population-based HIV Impact Assessment (NAMPHIA), we piloted a system of active linkage to care and ART (ALCART) that utilized the infrastructure of existing community-based partner organizations (CBPOs). All HIV-positive participants age 15-64 years not on ART were given standard passive referrals to ART plus the option to participate in ALCART. Cases were assigned to CBPOs in participants' localities. Healthcare workers from the CBPO's contacted cases and facilitated their linkage to facility-based ART. A total of 510 participants were eligible and consented to ALCART. The majority were new diagnoses (80.8%), while the remainder were previously diagnosed but not on ART (19.2%). Of the 510, 473 (92.7%) were successfully linked into care. Of these, all but one initiated ART. Our ALCART system used existing CBPOs and contributed to >90% linkage-to-care and >99% ART-initiation among linked participants in a large, nationally-representative survey. This approach can be used to improve the potential benefits of HTS in other large population-based surveys.

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.

Biallelic germline mutations affecting NTHL1 predispose carriers to adenomatous polyposis and colorectal cancer, but the complete phenotype is unknown. We describe 29 individuals carrying biallelic germline NTHL1 mutations from 17 families, of which 26 developed one (n = 10) or multiple (n = 16) malignancies in 14 different tissues. An unexpected high breast cancer incidence was observed in female carriers (60%). Mutational signature analysis of 14 tumors from 7 organs revealed that NTHL1 deficiency underlies the main mutational process in all but one of the tumors (93%). These results reveal NTHL1 as a multi-tumor predisposition gene with a high lifetime risk for extracolonic cancers and a typical mutational signature observed across tumor types, which can assist in the recognition of this syndrome.

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.

Mutations in GJB2, the gene encoding connexin-26 at the DFNB1 locus on 13q12, are found in as many as 50% of subjects with autosomal recessive, nonsyndromic prelingual hearing impairment. However, genetic diagnosis is complicated by the fact that 10%-50% of affected subjects with GJB2 mutations carry only one mutant allele. Recently, a deletion truncating the GJB6 gene (encoding connexin-30), near GJB2 on 13q12, was shown to be the accompanying mutation in approximately 50% of these deaf GJB2 heterozygotes in a cohort of Spanish patients, thus becoming second only to 35delG at GJB2 as the most frequent mutation causing prelingual hearing impairment in Spain. Here, we present data from a multicenter study in nine countries that shows that the deletion is present in most of the screened populations, with higher frequencies in France, Spain, and Israel, where the percentages of unexplained GJB2 heterozygotes fell to 16.0%-20.9% after screening for the del(GJB6-D13S1830) mutation. Our results also suggest that additional mutations remain to be identified, either in DFNB1 or in other unlinked genes involved in epistatic interactions with GJB2. Analysis of haplotypes associated with the deletion revealed a founder effect in Ashkenazi Jews and also suggested a common founder for countries in Western Europe. These results have important implications for the diagnosis and counseling of families with DFNB1 deafness.

Acute macular neuroretinopathy.

Acute macular neuroretinopathy is an infrequently encountered condition in which there is a sudden mild central vision loss, photopsia and red-brown wedge-shaped lesions in the macular region with corresponding scotomata in the central visual fields. The condition may be associated with the use of oral contraceptives or with a recent febrile illness. It is self-limiting and non-recurrent. The clinical features of a patient with acute macular neuroretinopathy are described and the nature of the vascular aetiology is discussed.

Diagnosis and management of open angle glaucoma: suggested guidelines for optometrists.

OBJECTIVE: The aims of this review are to define open angle glaucoma, to outline its prevalence and its financial and personal costs, to discuss the difficulties encountered in establishing the diagnosis and monitoring treatment, and to suggest initial clinical guidelines for the comanagement of glaucoma between ophthalmologists and optometrists. METHODS: The literature was selectively reviewed to permit deductions that can be directed toward an effective comanagement strategy for patients with open angle glaucoma. CONCLUSIONS: Comanagement of patients having open angle glaucoma is a viable option, provided the opportunity for improved monitoring and better compliance is available. The basis for successful management rests with the ability to detect change in the optic disc and surrounding retina, visual fields and intraocular pressure. All these signs are continuous variables for which there are no known limits of normality. The division of responsibilities of management will be established initially by legislation and in the future modified according to experience and the emergence of new therapies.

Clinical features of pseudoexfoliation of the lens capsule: suggested management.

BACKGROUND: Pseudoexfoliation of the lens capsule (PEX) is found in widely varying proportions across the population of regional groups. It is strongly associated with open angle glaucoma and to a lesser extent angle closure glaucoma. This association makes PEX a very important risk factor for glaucoma, which should be sought actively in all patients over 50 years of age who seek eye care. Our ageing population may give rise to a future high caseload of PEX glaucoma, which will create challenges in diagnosis and treatment. METHOD: Selected literature is reviewed. It includes a description of the course of PEX and suggested optometric clinical procedures to diagnose and assess the significance of PEX. An algorithm for guidance of optometric and ophthalmological management is presented. CONCLUSIONS: PEX is a common condition in the aged. It is an easily detected strong indicator of open angle glaucoma and to a lesser extent the risk of angle closure glaucoma. The presence of PEX should alert the clinician to the need for a full glaucoma assessment.

Herpes zoster opthalmicus.

INTRODUCTION: Herpes zoster is a common disease which may cause serious ocular sequelae when it affects the trigeminal nerve. Although involvement of the nasociliary branch of the first division of the trigeminal nerve is well recognised to be associated with serious and direct ocular morbidity, the need for careful long-term follow-up of cases of frontal branch involvement is perhaps less well known. METHODS: The pathogenesis, epidemiology, risk factors, clinical course and treatment of herpes zoster are discussed with emphasis on trigeminal nerve involvement. A case report is presented which illustrates the importance of continuing management when the frontal branch of the trigeminal nerve is affected. DISCUSSION: Clinical guidelines are suggested for optometric management of these cases in cooperation with medical practitioners.

Diabetic retinopathy: classification, description and optometric management.

BACKGROUND: Diabetes mellitus is an important cause of visual loss, which can be moderated by treatment at specific stages of diabetic retinopathy. Existing monitoring for retinopathy has been shown to fall short of ideal, resulting in unnecessary visual loss. Using appropriate guidelines, optometrists should be well-placed to contribute to the management of patients having diabetic eye disease. METHOD: The underlying pathology of diabetic retinopathy is reviewed as a basis for recognising the various stages of diabetic retinopathy, including macular oedema and risk of progression of disease. These stages are detailed in terms of classification, prevalence and appropriate examination techniques. An illustrated guide summarises these features and provides a suggested management regimen for continued monitoring, reporting, referral and ongoing management by optometrists. CONCLUSIONS: The majority of optometrists have the diagnostic skills and the clinical equipment required for efficient monitoring of diabetic retinopathy. Inclusion of optometrists in the team providing health services for diabetes is an economic and practical solution to improving the primary eye care of people having diabetes and ensuring a significant reduction of unnecessary visual loss caused by diabetic retinopathy.