Optic Disc Coloboma and Localized Chorioretinal Defects in Constitutional Partial Trisomy 8 Mosaicism

Constitutional partial trisomy 8 mosaicism is a rare chromosomal multisystem disorder with systemic and ophthalmologic manifestations. We report the case of a 15-year-old female mosaic for trisomy 8 who has unilateral colobomatous microphthalmia and multiple chorioretinal defects. These congenital anomalies have not been previously reported in association with constitutional partial trisomy 8 mosaicism.     

Correlates of the Women’s Development Army strategy implementation strength with household reproductive,maternal, newborn and child healthcare practices: a cross-sectional study in four regions of Ethiopia

Background

To address the shortfall in human resources for health, Ethiopia launched the Health Extension Program (HEP) in 2004, establishing a health post with two female health extension workers (HEWs) in every kebele (community). In 2011, the Women’s Development Army (WDA) strategy was added, using networks of neighboring women to increase the efficiency of HEWs in reaching every household, with one WDA team leader for every 30 households. Through the strategy, women in the community, in partnership with HEWs, share and learn about health practices and empower one another. This study assessed the association between the WDA strategy implementation strength and household reproductive, maternal, newborn and child health care behaviors and practices.

Methods

Using cross-sectional household surveys and community-level contextual data from 423 kebeles representing 145 rural districts, an internal comparison group design was applied to assess whether HEP outreach activity and household-level care practices were better in kebeles with a higher WDA density. The density of active WDA leaders was considered as WDA strategy implementation strength; higher WDA density in a kebele indicating relatively high implementation strength. Based on this, kebeles were classified as higher, moderate, or lower. Multilevel logit models, adjusted for respondents’ individual, household and contextual characteristics, were used to assess the associations of WDA strategy implementation strength with outcome indicators of interest.

Results

Average numbers of households per active WDA team leader in the 25th, 50th and 75th percentiles of the kebeles studied were respectively 41, 50 and 73. WDA density was associated with better service for six of 13 indicators considered (p < 0.05). For example, kebeles with one active WDA team leader for up to 40 households (higher category) had respectively 7 (95% CI, 2, 13), 11 (5, 17) and 9 (1, 17) percentage-points higher contraceptive prevalence rate, coverage of four or more antenatal care visits, and coverage of institutional deliveries respectively, compared with kebeles with one active WDA team leader for 60 or more households (lower category).

Conclusion

Higher WDA strategy implementation strength was associated with better health care behaviors and practices, suggesting that the WDA strategy supported HEWs in improving health care services delivery.

     

Lower eyelid position after transconjunctival lower blepharoplasty with versus without a skin pinch

PURPOSE: To evaluate the effect of transconjunctival lower blepharoplasty with or without a skin pinch on lower eyelid position. METHODS: Retrospective analysis of patients undergoing bilateral lower blepharoplasty using a transconjunctival approach with or without a skin pinch. Patients undergoing other surgical procedures that could affect lower eyelid position were excluded. Twenty-five patients (50 eyes) underwent transconjunctival blepharoplasty without skin pinch and 20 patients (40 eyes) underwent transconjunctival blepharoplasty with a skin-pinch technique. Preoperative and postoperative photographs were measured for the horizontal corneal diameter and distance from light reflex to lower eyelid margin (MRD2). The ratio of MRD2 to corneal diameter was multiplied by 11 to standardize to a corneal diameter of 11 mm. Student t test was used for statistical analysis. RESULTS: There were 8 male and 37 female patients. Average follow-up was 4 months. Mean preoperative standardized MRD2 was 4.68 mm and 4.65 mm for transconjunctival blepharoplasty without and with skin pinch, respectively. Mean postoperative standardized MRD2 was 4.73 mm and 4.70 mm for transconjunctival blepharoplasty without and with skin pinch, respectively. The mean change in lower eyelid position was 0.05 mm after each technique. The change in lower eyelid position was not statistically significant for either group (p > 0.5). There was no significant difference in lower eyelid position change between the 2 groups (p > 0.99). CONCLUSIONS: Transconjunctival lower blepharoplasty with or without a skin pinch yields a stable postoperative lower eyelid position.     

Potential role of uric acid in the molecular pathogenesis of age-related macular degeneration

Age-related macular degeneration (ARMD) is the foremost cause of blindness among the elderly population in industrialised countries. Currently, there is no effective treatment for the majority of patients. To develop new and effective modes of therapy, understanding of the molecular basis of the disease is mandatory. Many age-related pathologies have been attributed to cumulative oxidative damage caused by reactive oxygen intermediates. There is growing evidence that uric acid has antioxidant properties and it is a naturally occurring antioxidant. Based on antioxidant role in pathogenesis of ARMD and antioxidant properties of uric acid we conclude that altered uric acid metabolism could play a role in ARMD damage and pathogenesis. Future research needs to evaluate uric acid metabolism in ARMD patients.     

Association of optic nerve hypoplasia with mitochondrial cytopathies

Ocular complications are common in the mitochondrial cytopathies and include optic atrophy and retinal degeneration. We retrospectively reviewed 80 patients with nonsyndromic mitochondrial cytopathies (ie, not Kearns-Sayre syndrome, myoclonus epilepsy associated with ragged red fibers [MERRF], mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes [MELAS], neuropathy ataxia and retinitis pigmentosa, Leigh disease, maternally inherited diabetes and deafness, and myoneurogastrointestinal disorder and encephalopathy) and found 10 cases of optic nerve hypoplasia. Optic nerve hypoplasia occurs in at least 12% of patients with nonsyndromic mitochondrial cytopathies. Although the exact pathogenesis of optic nerve hypoplasia in the context of mitochondrial cytopathy is unknown, we postulate that it is the result of excessive apoptosis during embryonic ganglion cell and/or axonal development from abnormal mitochondrial function and cellular energy metabolism.     

Effects of a community-based data for decision-making intervention on maternal and newborn health care practices in Ethiopia: a dose-response study

Background

Community participation and community health volunteer programs are an essential part of the health system so that health services are responsive and accountable to community needs. Information systems are necessary for community health volunteer programs to be effective, yet effectiveness evaluations of such information systems implemented at scale are rare. In October 2010, a network of female volunteers with little or no literacy, the Women’s Development Army (WDA), was added to extend Ethiopia’s Health Extension Program services to every household in the community. Between July 2013 and January 2015, a health management information system for the WDA’s Community-Based Data for Decision-Making (CBDDM) strategy was implemented in 115 rural districts to improve the demand for and utilization of maternal and newborn health services. Using the CBDDM strategy, Health Extension Workers (HEWs) fostered the WDA and community leaders to inform, lead, own, plan, and monitor the maternal and newborn health interventions in their kebeles (communities). This paper examines the effectiveness of the CBDDM strategy.

Methods

Using data from cross-sectional surveys in 2010–11 and 2014–15 from 177 kebeles, we estimated self-reported maternal and newborn care practices from women with children aged 0 to 11 months (2124 at baseline and 2113 at follow-up), and a CBDDM implementation strength score in each kebele. Using kebele-level random-effects models, we assessed dose-response relationships between changes over time in implementation strength score and changes in maternal and newborn care practices between the two surveys.

Results

Kebeles with relatively high increases in CBDDM implementation strength score had larger improvements in the coverage of neonatal tetanus-protected childbirths, institutional deliveries, clean cord care for newborns, thermal care for newborns, and immediate initiation of breastfeeding. However, there was no evidence of any effect of the intervention on postnatal care within 2 days of childbirth.

Conclusions

This study shows the extent to which an information system for community health volunteers with low literacy was implemented at scale, and evidence of effectiveness at scale in improving maternal and newborn health care behaviors and practices.

     

Effects of a participatory community quality improvement strategy on improving household and provider health care behaviors and practices: a propensity score analysis

Background

Maternal and newborn health care intervention coverage has increased in many low-income countries over the last decade, yet poor quality of care remains a challenge, limiting health gains. The World Health Organization envisions community engagement as a critical component of health care delivery systems to ensure quality services, responsive to community needs. Aligned with this, a Participatory Community Quality Improvement (PCQI) strategy was introduced in Ethiopia, in 14 of 91 rural woredas (districts) where the Last Ten Kilometers Project (L10 K) Platform activities were supporting national Basic Emergency Obstetric and Newborn Care (BEmONC) strengthening strategies. This paper examines the effects of the PCQI strategy in improving maternal and newborn care behaviors, and providers’ and households’ practices.

Methods

PCQI engages communities in identifying barriers to access and quality of services, and developing, implementing and monitoring solutions. Thirty-four intervention kebeles (communities), which included the L10 K Platform, BEmONC, and PCQI, and 82 comparison kebeles, which included the L10 K Platform and BEmONC, were visited in December 2010–January 2011 and again 48 months later. Twelve women with children aged 0 to 11 months were interviewed in each kebele. Propensity score matching was used to estimate the program’s average treatment effects (ATEs) on women’s care seeking behavior, providers’ service provision behavior and households’ newborn care practices.

Results

The ATEs of PCQI were statistically significant (p?<?0.05) for two care seeking behaviors — four or more antenatal care (ANC) visits and institutional deliveries at 14% (95% CI: 6, 21) and 11% (95% CI: 4, 17), respectively — and one service provision behavior — complete ANC at 17% (95% CI: 11, 24). We found no evidence of an effect on remaining outcomes relating to household newborn care practices, and postnatal care performed by the provider.

Conclusions

National BEmONC strengthening and government initiatives to improve access and quality of maternal and newborn health services, together with L10 K Platform activities, appeared to work better for some care practices where communities were engaged in the PCQI strategy. Additional research with more robust measure of impact and cost-effectiveness analysis would be useful to establish effectiveness for a wider set of outcomes.

     

Mutational analysis of amino acid residues involved in IgE-binding to the Malassezia sympodialis allergen Mala s 11

The yeast Malassezia sympodialis, which is an integral part of the normal cutaneous flora, has been shown to elicit specific IgE- and T-cell reactivity in atopic eczema (AE) patients. The M. sympodialis allergen Mala s 11 has a high degree of amino acid sequence homology to manganese superoxide dismutase (MnSOD) from Homo sapiens (50%) and Aspergillus fumigatus (56%). Humoral and cell-mediated cross-reactivity between MnSOD from H. sapiens and A. fumigatus has been demonstrated. Taken together with the recent finding that human MnSOD (hMnSOD) can act as an autoallergen in AE patients sensitised to M. sympodialis, we hypothesized that cross-reactivity could also occur between hMnSOD and Mala s 11, endogenous hMnSOD thus being capable of stimulating an immune response through molecular mimicry. Herein we demonstrate that recombinant Mala s 11 (rMala s 11) is able to inhibit IgE-binding to recombinant hMnSOD and vice versa, indicating that these two homologues share common IgE-binding epitopes and providing an explanation at a molecular level for the autoreactivity to hMnSOD observed in AE patients sensitised to Mala s 11. Using molecular modelling and mapping of identical amino acids exposed on the surface of both Mala s 11 and hMnSOD we identified four regions each composed of 4-5 residues which are potentially involved in IgE-mediated cross-reactivity. Mutated rMala s 11 molecules were produced in which these residues were altered. Native-like folding was verified by enzymatic activity tests and circular dichroism. The rMala s 11 mutants displayed lower IgE-binding in comparison to wild-type rMala s 11 using plasma from AE patients. In particular, mutation of the residues E29, P30, E122 and K125 lowered the IgE-binding to Mala s 11. The results of this study provide new insights in the molecular basis underlying the cross-reactivity between Mala s 11 and hMnSOD.