Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes.

PURPOSE: To describe the results of clinical and molecular analyses in a group of patients suffering from inherited macular dystrophies, in which next-generation sequencing (NGS) efficiently detected rare causative mutations. METHODS: A total of eight unrelated Mexican subjects with a clinical and multimodal imaging diagnosis of macular dystrophy were included. Visual assessment methods included best corrected visual acuity, color fundus photography, Goldmann visual field tests, kinetic perimetry, dark/light adapted chromatic perimetry, full-field electroretinography, autofluorescence imaging, and spectral domain-optical coherence tomography imaging. Genetic screening was performed by means of whole exome sequencing with subsequent Sanger sequencing validation of causal variants. RESULTS: All patients exhibited a predominantly macular or cone-dominant disease. Patients' ages ranged from 12 to 60 years. Three cases had mutations in genes associated with autosomal dominant inheritance (UNC119 and PRPH2) while the remaining five cases had mutations in genes associated with autosomal recessive inheritance (CNGA3, POC1B, BEST1, CYP2U1, and PROM1). Of the total of 11 different pathogenic alleles identified, three were previously unreported disease-causing variants. CONCLUSIONS: Macular dystrophies can be caused by defects in genes that are not routinely analyzed or not included in NGS gene panels. In this group of patients, whole exome sequencing efficiently detected rare genetic causes of hereditary maculopathies, and our findings contribute to expanding the current knowledge of the clinical and mutational spectrum associated with these disorders.

Perspectives of Obstetricians and Women with a History of Prior Cesarean Birth Regarding Subsequent Mode of Birth in Trifinio and Coatepeque, Guatemala.

BACKGROUND: The decision regarding delivery in the context of a prior cesarean birth is complex because both trial of labor after cesarean and elective repeat cesarean birth have risks and benefits. PURPOSE: Our research objective was to understand the perspective of women and obstetricians regarding factors influencing mode of birth for women with a history of prior cesarean. METHODS: In February 2020, qualitative data was collected at Coatepeque Hospital in Coatepeque, Guatemala. In-depth interviews were conducted with obstetricians and women at the Center for Human Development in the Southwest Trifinio region. Interviews were recorded, transcribed, translated, and analyzed using conceptual content analysis of key informant interviews to analyze the meaning of themes and concepts related to mode of delivery for women with a history of prior cesarean birth. RESULTS: Women described feeling conflicted about their preferences on the location and attendant of their future births, but suggested that the hospital setting, and physician providers were more capable of managing complications. Physicians felt trial of labor after cesarean was the safer option but described multiple reasons that made repeat cesarean birth the more common mode of birth. CONCLUSIONS: There is a need for innovative approaches to patient messaging and education around mode of delivery after a prior cesarean in the Southwest Region in Guatemala. Findings from this study underscore the need to improve the quality and dissemination of the educational information given, medical history collected during prenatal care, and pain control during labor. Finally, there is a need for obstetric training to support vaginal birth in the facility setting for the successful implementation of evidence-based practices around trial of labor after cesarean at Coatepeque Hospital.

Prevalence and Predictors of Low Birth Weight in a Rural Guatemalan Community.

BACKGROUND: The intention of our study was to establish the prevalence of low birth weight (LBW) as well as risk factors for LBW in infants born to a convenience sample of women enrolled in a home visitation maternal care program associated with the Center for Human Development in Southwest Trifinio, Guatemala. METHODS: This is an observational study analyzing self-reported data from a quality improvement database. We recorded the distribution of birthweights of infants born to women enrolled in Madres Sanas that delivered between October 2018 and December 2019. We grouped women by LBW (<2500g ) and adequate birthweight (≥2500g) infants, and performed bivariate comparisons using sociodemographic, obstetric, and intrapartum data. Using the independent variables shown to have an association with LBW, we then performed a multivariable analysis. RESULTS: There were 226 births among our program participants, 218 with recorded birthweights. The median birthweight was 3175g; 13.8% were LBW (<2500g), higher than Guatemala's average of 10.9%. Through our bivariate analysis, we determined women with LBW infants were younger, with a median age of 20.8 (IQR [17.8-23.7]) compared to a median age of 23.2 (IQR [19.8-27.3]) among women with infants ≥2500g (P=0.03). Women with LBW infants were also more likely to have fewer than 4 prenatal visits (33.3% vs 19.3%, P=0.04). CONCLUSION: Two significant findings emerged from our analysis: LBW infants were more commonly born to women who were younger in age and who had received fewer than 4 prenatal visits. These findings are consistent with existing literature on LBW in Latin America. Our study helps to strengthen the data around these associations and gives credence to programming and policy efforts in Latin America that support adequate prenatal care for all and youth education about reproductive health and contraceptive access.

The Addition of Traditional Birth Attendant Care to a Home-Based Skilled Nursing Program in Rural Guatemala: A Secondary Analysis from a Quality Improvement Database.

INTRODUCTION: The use of traditional birth attendants (TBAs) in low- and middle-income countries remains controversial. The aim of this secondary analysis was to observe factors associated with visiting a TBA in addition to a skilled nurse for antepartum care and how this additional care was associated with birth characteristics and outcomes. METHODS: The study included a convenience sample of women living in Southwestern Guatemala enrolled in a community nursing program between October 1, 2018, and December 3, 2019. This analysis describes the sociodemographic characteristics, antepartum care, birth outcomes, and postpartum behaviors of women who received antepartum care with skilled nurses only compared with women who received antepartum care with skilled nurses and a TBA. RESULTS: Of the 316 enrollees, 259 had given birth and completed their postpartum visit at the time of analysis. Three women were excluded because of missing data. The majority of women in the study sample reported visiting a TBA over the course of their pregnancies (80.9%). Women who saw a TBA in addition to the nurse were similar to the comparator sample except that they were almost 3 times more likely to have 8 or more prenatal contacts with the nurse. In separate multivariable logistic regression models adjusted for number of prenatal visits, women who saw a TBA in addition to nurses had a reduced likelihood of cesarean birth, increased likelihood of birth with a TBA, and increased likelihood of breastfeeding within one hour of birth compared with women who only received antenatal care from nurses. Patient-reported adverse outcomes were not included in the analysis because of low prevalence and concern about data quality and missing data. DISCUSSION: Among a convenience sample of women in the Trifinio community in rural Guatemala, a large proportion of women continued to seek the care of a TBA in pregnancy while using a skilled nursing program for antenatal care. Intentionally integrating the TBA into the maternity care workforce may be beneficial for improving pregnancy care quality measures.

Delivery of home-based post-partum contraception in rural Guatemalan women: feasibility, recruitment and retention in a cluster-randomized trial.

BACKGROUND: Few cluster-randomized trials have been performed in rural Guatemala. Our objective was to describe the feasibility, recruitment and retention in our cluster-randomized trial. METHODS: In our cluster-randomized trial, a range of contraceptives were brought to mothers' homes in rural Guatemala. RESULTS: Of 173 women approached, 33 were excluded. Of the 140 eligible women, 127 (91%) consented to participate. Of the 87 women who should have been assessed for the primary outcome, three were lost to follow-up, which represents a retention rate of 97%. CONCLUSIONS: Nurses who are both clinical providers and study staff can feasibly conduct research, which leads to high enrollment and retention rates.

Initial Contraceptive Choices of Women Enrolled in a Cluster-Randomized Trial in Southwest Trifinio, Guatemala.

INTRODUCTION: The aim of this analysis is to present initial contraceptive choices of women offered postpartum contraception in rural Guatemala. METHODS: We trained community nurses participating in the delivery of a home-based antepartum and postpartum care program in rural Guatemala in contraceptive implant placement and had them offer condoms, pills, an injection, or an implant at women's home-based 40-day postpartum visit in intervention clusters of a non-blinded, cluster-randomized trial. Women who had already started postpartum contraception or were over the age of 35 were excluded from participation. The primary outcome of the trial was contraceptive use at 3 months postpartum, so this initial analysis describes immediate preferences in the population. RESULTS: Of 208 women enrolled in the study, 108 were in intervention clusters and 100 lived in control clusters. In the intervention group, 32 women declined contraception, 36 women received the injectable, 30 women had an implant placed, 5 women started pills, 2 women chose condoms, and data on 3 women were missing. In the control clusters, 43 women were planning on the injectable, 11 planned on the implant, 10 did not want to start a method, 5 planned on sterilization, 2 aimed for natural family planning, 2 wanted a copper IUD, 1 woman wanted condoms, 18 did not know, and data on 8 women were missing. DISCUSSION: The contraceptive implant, which was not previously available in this community, had high uptake at 27.8% in the intervention group. TRIAL REGISTRATION: Clinicaltrials.gov, NCT04005391; Retrospectively Registered 7/2/2019, https://clinicaltrials.gov/ct2/show/NCT04005391 Protocol: https://doi.org/10.1186/s13063-019-3735-3.

Identifying Prevalence and Risk Factors for Intimate Partner Violence in Pregnant Women in Rural Guatemala.

BACKGROUND: Victims of intimate partner violence (IPV) during pregnancy experience significant physical and mental health consequences and adverse birth outcomes. Our objective was to describe the prevalence of IPV, and risk factors associated with IPV in pregnant, rural Guatemalan women. METHODS: This retrospective cohort study was completed using quality improvement data gathered during routine prenatal health visits to women of Trifinio, Guatemala, by the Madres Sanas maternal health program from 2018 through 2020. Chi-square and t-tests were used to determine if there were differences in characteristics between women who self-reported experiencing IPV and those who did not. If differences occurred (p < 0.2), those covariates were included in a multivariable logistic regression to determine sociodemographic risk associated with IPV. RESULTS: 583 women were enrolled with Madres Sanas between October 10, 2018, and October 1, 2020, and reported on IPV. Nineteen (3.26%) women reported experiencing IPV. The highest prevalence of IPV (7.6%) occurred in the sub-group of women who experienced food insecurity during the past year. The sole covariate of all sociodemographic and health characteristics which differed significantly between women who reported experiencing and not experiencing IPV was food insecurity. A regression model found that those who had worried about ability to buy food in the past year had a 3.19-fold increase in the odds that they experienced IPV (95% CI 1.072, 9.486, p-value 0.037). CONCLUSION: Among this convenience sample of women, the prevalence of IPV was 3.26%. Food insecurity was associated with increased odds of experiencing IPV, highlighting an opportunity for interventions.

Use of Postpartum Birth Control in Rural Women in Southwest Guatemala: Analysis of a Quality-Improvement Database.

OBJECTIVE: Our objective was to observe the prevalence of postpartum contraceptive use in a population of rural women in Southwest Guatemala by type, and to determine characteristics associated with long-acting reversible contraceptive (LARC) use and sterilization. METHODS: We conducted a secondary analysis of prospectively collected quality improvement data from a cohort of postpartum women. We compared women intending to use or already using contraception to those not intending to utilize a method; bivariate comparisons were used to determine if there were differences in characteristics between these groups. If differences occurred (p < 0.2), those covariates were included in multivariable regression analyses to determine characteristics associated with use, and then specifically with LARC use and sterilization. RESULTS: In a cohort of 424 women who were surveyed between 2015-2017, the average age was 23 years old, and the prevalence of use or plan to use postpartum contraception was 87.5%. Women with a parity of 2 - 3 were 10% more likely to use any form of postpartum birth control (RR 1.1, CI [1.01, 1.2]) compared to primiparous women. Women who were married were also more likely to use a postpartum method (RR > 10, CI [>10,>10]). The prevalence of LARC use was low (4.0%), and women were more likely to choose this method if they were employed (RR 3.5 CI [1.1, 11.3]).Regarding sterilization, women with a parity of greater than one compared to primiparous women had an increased likelihood of sterilization (RR 3.6 CI [2.5,4.9]); each year a woman aged was associated with a 10% increased likelihood of postpartum sterilization (RR 1.1 CI [1.01,1.08]). Women were also more likely to choose sterilization if delivered by a skilled birth attendant (RR 1.8 CI [1.1,2.9]) or by cesarean birth (RR 2.1 CI [1.4,3.1]). CONCLUSION: In this cohort, married women of higher parity were more likely to use postpartum contraception, with employed women more likely to use a LARC method. Older women of higher parity who were delivered by a skilled attendant by cesarean birth were the most likely to pursue sterilization.

Characteristics Associated with Choosing Long-Acting Reversible Contraception in Rural Guatemala: A Secondary Analysis of a Cluster-Randomized Trial.

DESIGN: We conducted a secondary analysis of a cluster-randomized trial to observe characteristics associated with women who chose to use long-acting reversible contraceptives (LARC) compared to those who chose a short-acting method 12 months after enrollment. METHODS: The trial studied four control and four intervention clusters where the intervention clusters were offered contraception at their 40-day routine postpartum visit; control clusters received standard care, which included comprehensive postpartum contraceptive counseling. Women were followed through twelve months postpartum. RESULTS: The study enrolled 208 women; 94 (87.0%) were in the intervention group and 91 (91.0%) were in the control group. At twelve months, with 130 (70.3%) women using contraception at that time. 94 women (50.8%) were using a short acting method compared to 33 (17.9%) who chose a long-acting method, irrespective of cluster. In mixed effect regression modeling adjusted for cluster, characteristics associated with a reduced likelihood of choosing long-acting contraception in multivariate modeling included age (aRR 0.98 [0.96,0.99], p = 0.008) and any education (compared to no education; aRR 0.76 [0.60,0.95], p = 0.02). Women who were sexually active by their enrollment visit (40 days postpartum) were 30% more likely to opt for a long-acting method (aRR 1.30 [1.03,1.63], p = 0.03). CONCLUSION: Older and more educated women were less likely to be using LARC a year after enrollment, while women with a history of early postpartum sexual activity were more likely to choose LARC.

Twelve-Month outcomes of a Cluster-Randomized Trial of Home-Based Postpartum Contraceptive Delivery in Southwest Trifinio, Guatemala.

DESIGN: We executed a cluster-randomized parallel arm pragmatic trial to observe the association of home-based postpartum contraceptive provision, including the contraceptive implant, with three and 12-month contraceptive utilization, satisfaction, and pregnancy rates. METHODS: Eight clusters were randomized to receive either the home-based contraceptive delivery (condoms, pills, injection, implant) during the routine 40-day postpartum visit in addition to routine care, or routine care alone, which included comprehensive contraceptive counseling throughout antepartum care. RESULTS: 208 women were enrolled in the study, 108 in the intervention clusters and 100 in control clusters. 94 (87.0%) women in the intervention group and 91 (91%) of women in control clusters were evaluated 12 months post-enrollment. Likelihood of using contraception at that time was borderline increased in intervention clusters (RR 1.1 [1.0,1.3], p = 0.05) with an increased likelihood of long-acting contraceptive use (the implant; RR 1.6 [1.3,1.9], p < 0.001). Pregnancy rates were also borderline reduced in the intervention clusters (RR 1.0 [1.0,1.1], p = 0.07). There was no difference in satisfaction of women with contraceptive use between arms with about 95% of women very satisfied or a little satisfied in each arm. Continuation rates at twelve months of contraceptives in the intervention group were 0.0% for condom users, 80.0% for contraceptive pill users, 57% for injectable users, and 83% for implant users. Most women who discontinued their initial method chose a more long-term or permanent method. There was a trend toward a significant association with reduced short interval pregnancy. CONCLUSION: Our study had a borderline increase in overall use of contraception by 12 months, did have an increased likelihood of long-acting contraceptive use of the implant by 12 months, and resulted in a trend toward reduced short interval pregnancy in the intervention clusters as compared to control clusters.

Primary and secondary three-month outcomes of a cluster-randomized trial of home-based postpartum contraceptive delivery in southwest Trifinio, Guatemala.

DESIGN: This a cluster-randomized parallel arm pragmatic trial to observe the association of home-based postpartum contraceptive provision, including the contraceptive implant, with implant utilization rates at 3 months post-enrollment. METHODS: In a region of rural Guatemala referred to as the Southwest Trifinio, twelve communities are served by a community-based antenatal and postnatal care program. The communities were combined into eight clusters based on 2017 birth rates and randomized to receive the home-based contraceptive delivery (condoms, pills, injection, implant) during the routine 40-day postpartum visit. All participants receive comprehensive contraceptive counseling beginning at the first antenatal visit, so control clusters received this as part of routine care; this education preceded the study intervention. RESULTS: Once the 12 communities were combined into 8 clusters by expected birth volume and nurse team, which we expected to translate to eventual postpartum visits, the allocation sequence was generated in SAS. Of 208 women enrolled in the study, 108 were in four intervention and 100 in four control clusters. We used descriptive statistics to produce counts and percentages of characteristics of the study population overall and by intervention arm followed by univariate modeling using a mixed effects regression adjusted for cluster. Three-month contraceptive initiation rates were 56.0% in the control clusters compared to 76.8% in the intervention clusters, p < 0.001. Women in control clusters overwhelmingly opted for the injectable contraceptive (94.6%) while women in intervention clusters chose both the injection (61.5%) and the implant (33.7%), p < 0.001. Implant use by 3 months, the primary outcome of the study, was significantly higher in the intervention arm (25.9%) compared to the control arm (3.6%), p < 0.001, RR 1.3 CI [1.2, 1.4]. CONCLUSION: Our study was designed to respond to previously identified barriers to contraceptive uptake, and it was successful. Not only did it increase overall use of contraception by 3 months, but it shifted that contraceptive use away from short-acting methods in favor of longer-acting methods, with high continuation and satisfaction rates and no adverse outcomes reported. TRIAL REGISTRATION: clinicaltrials.gov , NCT04005391 ; Retrospectively Registered 7/2/2019.

Interpregnancy Interval in a Rural Guatemalan Population: Results from a Quality Improvement Database.

OBJECTIVE: This analysis describes the interpregnancy interval (time from livebirth to subsequent conception) in a convenience sample of women living in Southwest Guatemala and the association of antepartum characteristics and postpartum outcomes with a short interpregnancy interval (< 24 months). METHODS: This is an observational study of a convenience sample of women enrolled in the Madres Sanas community antenatal/postnatal nursing program supported by the Center for Human Development in Southwest Trifinio, Guatemala, between October 1, 2018 and October 1, 2019. We observed the distribution of interpregnancy intervals among the population of women with a reported date of last live birth, and used bivariate comparisons to compare women with a short interpregnancy interval (< 24 months) to those with an optimal interval ([Formula: see text] 24 months) by antepartum, obstetric and delivery, and postpartum outcomes. RESULTS: 171 parous women enrolled in the Madres Sanas program between October 1, 2018 and October 1, 2019, and reported the date of their last live birth. One hundred-forty-one (82.5%) women delivered and 130 of those women (92.2%) were seen for their 40-day postpartum visit. The mean interval was 37.1 months with a 22.1-month standard deviation. The median interval was 33.7 months with an interquartile range of 19.6-49.5 months. Among these women, 113 (66.1%) the interpregnancy interval was at least 24 months. The only covariate of all sociodemographic, obstetric and antepartum, delivery, and postpartum characteristics that differed between women who achieved an interval ([Formula: see text] 24 months) compared to those that did not (< 24 months), was age (median 22.9, interquartile range (IQR) [19.1,27.0] vs median 24.8, IQR [21.6,27.9], respectively, p = 0.006). A regression model found that with each increasing year of age, the interpregnancy interval increases by 1.08 months, p = 0.025. CONCLUSION: Among parous women, two-thirds of women space pregnancies at least 24 months. Older women were more likely to have a longer interval between live births.

Delivery of home-based postpartum contraception in rural Guatemalan women: a cluster-randomized trial protocol.

BACKGROUND: Postpartum contraception is important to prevent unintended and closely spaced pregnancies following childbirth. METHODS: This study is a cluster-randomized trial of communities in rural Guatemala where women receive ante- and postnatal care through a community-based nursing program. When nurses visit women for their postpartum visit in the intervention clusters, instead of providing only routine care that includes postpartum contraceptive education and counseling, the nurses will also bring a range of barrier, short-acting, and long-acting contraceptives that will be offered and administered in the home setting, after routine clinical care is provided. DISCUSSION: A barrier to postpartum contraception is access to medications and devices. Our study removes some access barriers (distance, time, cost) by providing contraception in the home. We also trained community nurses to place implants, which are a type of long-acting reversible contraceptive method that was previously only available in the closest town which is about an hour away by vehicular travel. Therefore, our study examines how home-based delivery of routinely available contraceptives and the less routinely available implant may be associated with increased uptake of postpartum contraception within 3 months of childbirth. The potential implications of this study include that nurses may be able to be trained to safely provide contraceptives, including placing implants, in the home setting, and provision of home-based contraception may be an effective way of delivering an evidence-based intervention for preventing unintended and closely spaced pregnancies in the postpartum period. TRIAL REGISTRATION: Clinicaltrials.gov, NCT04005391. Retrospectively registered on 1 July 2019.

Labour productivity losses caused by premature death associated with hepatitis C in Spain.

BACKGROUND AND AIMS: Hepatitis C virus (HCV) infection places a huge burden on healthcare systems. There is no study assessing the impact of HCV infection on premature deaths in Spain. The aim of this study was to estimate productivity losses because of premature deaths attributable to hepatitis C occurring in Spain during 2007-2011. MATERIALS AND METHODS: We use data from several sources (Registry of Deaths, Labour Force Survey and Wage Structure Survey) to develop a simulation model based on the human capital approach and to estimate the flows in labour productivity losses in the period considered. The attributable fraction method was used to estimate the numbers of deaths associated with HCV infection. Two sensitivity analyses were developed to test the robustness of the results. RESULTS: Our model shows total productivity losses attributable to HCV infection of 1054.7 million euros over the period analysed. The trend in productivity losses is decreasing over the period. This result is because of improvements in health outcomes, reflected in the reduction of the number of years of potential productive life lost. Of the total estimated losses, 18.6% were because of hepatitis C, 24.6% because of hepatocellular carcinoma, 30.1% because of cirrhosis, 15.9% because of other liver diseases and 10.7% because of HIV-HCV coinfection. CONCLUSION: The results show that premature mortality attributable to hepatitis C involves significant productivity losses. This highlights the need to extend the analysis to consider other social costs and obtain a more complete picture of the actual economic impact of hepatitis C infection.

Health-related quality of life in diabetic people with different vascular risk.

BACKGROUND: The number of papers on the health related quality of life of patients with DM has grown in recent years but fewer studies have drawn comparisons between diabetic persons and the general population considering different risk groups. The aim of this study is to examine health related quality of life (HRQOL) in people with diabetes mellitus (DM) and to analyze the differences in HRQOL adjusting by vascular risk. METHODS: The data used in this analysis was obtained from the responses of 15,926 individuals who participated in the 2006 Catalonia Health Survey. Our analysis provides a number of multivariate statistical models designed for studying HRQOL, based on the EQ-5D questionnaire, controlling for demographic factors of survey participants and variables that identify diagnosed illnesses and health problems. RESULTS: Our findings suggest there is a significant, moderate negative relationship between DM and HRQOL in comparison with non diabetic people (absolute value of the coefficient ranges between -0.04 and -0.054 points on a scale of 1). A further analysis of subgroups reveals that diabetics who have not had vascular risk factors neither vascular diseases do not have a diminished HRQOL when compared to the non-diabetic population in general, when other factors are controlled for. In contrast, a comparison of diabetics and non-diabetics who exhibit vascular disease or risk factors for vascular disease reveals HRQOL is significantly diminished to a greater extent for those with diabetes (between 0.152 and 0.175 points loss when comparing a non-diabetic person with a diabetic with vascular disease). Also, HRQOL in diabetic patients who have additional risk factors or a vascular disease are lower than people non-diabetic who have additional risk factors or a vascular disease. When we focus our analysis to the EQ-5D dimensions, we observe that diabetic persons who are neither at risk for nor have a diagnosed vascular disease are no more likely than non-diabetics to report problems. However, diabetic patients who have additional risk factors for vascular disease or a diagnosed vascular disease are significantly more likely to report moderated or severe problems in 4 of the 5 dimensions of EQ-5D. CONCLUSIONS: The HRQOL of a person who has diabetes is not necessarily lower than for a non-diabetic. Control of risk factors associated to vascular diseases is a key factor for an enhanced quality of life. Vascular disease or risk factors for vascular disease, on the other hand, are associated with a significantly diminished quality of life for diabetic persons.