Disparities for genetic cancer risk assessment (GCRA) for hereditary breast and ovarian cancer (HBOC) persist between Latina and non-Hispanic Whites. There are few tested culturally targeted ...interventions. We developed a culturally targeted video to enhance GCRA uptake in at-risk Latinas. Interviews with healthcare providers (
n
= 20) and at-risk Latinas (
n
= 20) were conducted as formative research to inform the development of the video. Findings from the formative research, health behavior conceptual models, and evidence-based risk communication strategies informed the messages for the script. Then, we conducted a focus group with at-risk Latinas (
n
= 7) to obtain feedback for final refinement of the script. The final video was piloted for acceptability and potential dissemination in a sample of Latino community health workers (CHWs) (
n
= 31). Providers and at-risk Latinas suggested using simple language and visual aids to facilitate comprehension. Participants in the focus group identified areas for further clarification (e.g., cost). The result was an 18-min video that illustrates “Rosa’s” story. Rosa learns about HBOC risk factors and overcomes barriers to attend genetic counseling. CHWs reported high overall satisfaction with the video (
M
= 9.61, SD = .88, range 1–10). A culturally targeted video has the potential to reach underserved populations with low literacy and English proficiency.
An optimal model for telemedicine use in the international care setting has not been established. Our objective was to describe variables associated with patient outcome during the implementation of ...an international pediatric cardiac critical care (PCCC) telemedicine program.
A retrospective review was performed of clinical records and a telemedicine database of patients admitted to the cardiac intensive care unit (CICU) at the Fundacion Cardiovascular de Colombia, Bucaramanga, Colombia, during the initial 10 months of our program, compared with patients admitted during a previous period. Information collected included demographic data, cardiac diagnosis and associated factors, Risk Adjustment for Congenital Heart Surgery (RACHS)-1 classification, and perioperative events. Primary outcome was composed of CICU and hospital mortality. Secondary outcomes were CICU and hospital length of stay (LOS).
Of the 553 patients who were included, teleconsultation was done for 71 (12.4%), with a total of 156 encounters, including 19 for patients on extracorporeal membrane oxygenation. Three hundred twenty-one recommendations were given, and 42 real-time interventions were documented. RACHS-1 distribution was similar between study periods (p=0.427). Teleconsulted patients were significantly younger (44 versus 24 months; p=0.03) and had higher surgical complexity than nonteleconsulted patients (p=0.01). RACHS-1 adjusted hospital survival was similar between study periods. CICU and hospital LOS intervals were significantly shorter in the telemedicine period (10 versus 17 days p=0.02 and 22 versus 28 days p<0.001). In surgical cases, preoperative CICU LOS was significantly shorter (3 versus 6 days; p<0.001). Variables associated with hospital mortality were higher RACHS-1 categories, lower weight, bypass time longer than 150 min, and use of circulatory arrest, as well as the presence of sepsis or necrotizing enterocolitis. Those associated with increased LOS were lower weight, extracorporeal membrane oxygenation, and cross-clamp time longer than 60 min.
An international telemedicine service in PCCC was associated with lower CICU and hospital LOS. Prospective telemedicine interventions aimed to decrease mortality and LOS should focus on patients with higher RACHS-1 categories, lower-weight infants, and those with prolonged operative time and selective perioperative complications.
The port of Barranquilla Cortes, Andrea Otero
Revista de economía del Caribe,
06/2012
10
Journal Article
Recenzirano
Odprti dostop
The port of Barranquilla is located on the western margin of the Magdalena River, 22 km before the river mouth at the Caribbean Sea. Nowadays, it is ranked fourth among the biggest ports of the ...country in terms of cargo volume. Nevertheless, it has problems for navigation throughout his access channel, which has caused the port to loss competitiveness in comparison with other deepwater ports of the region like Santa Marta and Cartagena. This problem demonstrates the lack of a policy of maintenance of the access channel that guarantees the entry and exit of large vessels at any time. Even so, the port has a promising future, based on the reactivation of the navigation throughout the Magdalena River and the port of Barranquilla will be key in order to connect inland factories with the Caribbean Sea through the Magdalena River. PUBLICATION ABSTRACT
In the last few years, pertussis has re-emerged worldwide. The aim of this article is to study how the incidence of the disease has evolved in Barcelona city over a 16-year period, and determine ...which factors are associated with the evolution of the disease. We discuss the causes of the observed changes considering different possibilities such as vaccination coverage, vaccine effectiveness, increased surveillance or the effect of the current economic recession.
We performed a cross-sectional, observational, population-based descriptive study using data for the 2000-2015 period from the notifiable diseases register maintained by Barcelona Public Health Agency. We used Poisson regression to compute adjusted odds ratios (aOR) and their corresponding 95% confidence intervals (CI).
A total of 1791 cases were registered. The incidence of the disease increased throughout the city from 2011 onwards. While children under 1 year of age had the highest-incidence and were the most at risk (aOR = 27.18, CI:23.51-31.44), we found that the age of affected children was higher in the last years. Incidence proportion (PRR) was lower among foreign-born children than native children (PRR = 0.43 CI:0.32-0.58). In the whole-cell vaccine period (2000-2004), the percentage of cases under 1 year of age who received the vaccine was lower than in 2005-2015 when the acellular vaccine was used (p = 0.01), suggesting a lower efficacy of the acellular vaccine. However, vaccination coverage in children under 6 years remained high (~ 90%), and there were no significant year-to-year variations (p = 0.757). Moreover, there did not appear to be any significant restrictions in medical care. According to the index of disposable household income (DHI), pertussis incidence increased from 2011 onwards in all neighbourhoods and remained higher in those with lower DHI.
The noteworthy increase in pertussis incidence does not seem to be due to the economic recession, but to other factors here described.
RAD51C and RAD51D are involved in DNA repair by homologous recombination. Germline pathogenic variants (PVs) in these genes are associated with an increased risk of ovarian and breast cancer. ...Understanding the homologous recombination deficiency (HRD) status of tumors from patients with germline PVs in RAD51C/D could guide therapeutic decision-making and improve survival.
To characterize the clinical and tumor characteristics of germline RAD51C/D PV carriers, including the evaluation of HRD status.
This retrospective cohort study included 91 index patients plus 90 relatives carrying germline RAD51C/D PV (n = 181) in Spanish hospitals from January 1, 2014, to December 31, 2021. Genomic and functional HRD biomarkers were assessed in untreated breast and ovarian tumor samples (n = 45) from June 2022 to February 2023.
Clinical and pathologic characteristics were assessed using descriptive statistics. Genomic HRD by genomic instability scores, functional HRD by RAD51, and gene-specific loss of heterozygosity were analyzed. Associations between HRD status and tumor subtype, age at diagnosis, and gene-specific loss of heterozygosity in RAD51C/D were investigated using logistic regression or the t test.
A total of 9507 index patients were reviewed, and 91 patients (1.0%) were found to carry a PV in RAD51C/D; 90 family members with a germline PV in RAD51C/D were also included. A total of 157 of carriers (86.7%) were women and 181 (55.8%) had received a diagnosis of cancer, mainly breast cancer or ovarian cancer. The most prevalent PVs were c.1026+5_1026+7del (11 of 56 19.6%) and c.709C>T (9 of 56 16.1%) in RAD51C and c.694C>T (20 of 35 57.1%) in RAD51D. In untreated breast cancer and ovarian cancer, the prevalence of functional and genomic HRD was 55.2% (16 of 29) and 61.1% (11 of 18) for RAD51C, respectively, and 66.7% (6 of 9) and 90.0% (9 of 10) for RAD51D. The concordance between HRD biomarkers was 91%. Tumors with the same PV displayed contrasting HRD status, and age at diagnosis did not correlate with the occurrence of HRD. All breast cancers retaining the wild-type allele were estrogen receptor positive and lacked HRD.
In this cohort study of germline RAD51C/D breast cancer and ovarian cancer, less than 70% of tumors displayed functional HRD, and half of those that did not display HRD were explained by retention of the wild-type allele, which was more frequent among estrogen receptor-positive breast cancers. Understanding which tumors are associated with RAD51C/D and HRD is key to identify patients who can benefit from targeted therapies, such as PARP (poly adenosine diphosphate-ribose polymerase) inhibitors.
INTRODUCTIONSensorineural hearing loss (SNL) is the most prevalent sensory deficit in our environment. Next generation genomic sequencing (NGS) enables an aetiological diagnosis in a high percentage ...of patients. Our pilot study shows the results of the systematic application of NGS in a Childhood Hearing Loss Unit, as well as its implications for the clinical management of patients and their families. MATERIAL AND METHODWe included 27 patients diagnosed with SNL between 2014 and 2017, in which an environmental cause was ruled out. The genetic test consisted of a panel of genes analyzed by NGS (OTOgenicsTM panel). This panel has been designed to include genes associated with sensorineural or mixed hearing loss, early onset or late, syndromic and non-syndromic, regardless of their inheritance pattern. RESULTSA genetic diagnosis was obtained in 56% (15/27) of the patients (62% in the case of bilateral SNL). Of the patients, 5/27 (19%) presented pathogenic variants in the GJB2 gene and the rest pathogenic and / or probably pathogenic variants in other genes associated with isolated SNL (PR2X2, TECTA and STRC), with syndromic SNL (CHD7, GATA3, COL4A5, MITF and SOX10) or with syndromic and non-syndromic SNL (BSND, ACTG1 and CDH23). DISCUSSIONThe aetiological diagnosis of SNL is a challenge in clinical practice. Our series demonstrates that it is possible to implement genetic diagnosis in the care routine and that this information has prognostic and therapeutic implications.
Comparison of different treatments used for polycystic ovary syndrome Llamas, Miriam C.; Montejano, Javier Méndez; Vergara, Maritza Del C. Mudarra ...
International Journal of Reproduction, Contraception, Obstetrics and Gynecology,
02/2022, Letnik:
11, Številka:
2
Journal Article
Polycystic ovary syndrome (PCOS) is a disease that currently affects many women of reproductive age. In recent years, the incidence of PCOS has increased, affecting 4% of all women worldwide, with a ...prevalence of 6% in Mexico. PCOS is a condition characterized by different metabolic, reproductive and hormonal disorders such as hyperandrogenism, chronic anovulation, menorrhagia or infertility. Patients commonly develop clinical alterations such as hirsutism, acne and in some cases, they become overweight or obese. Different medications and therapeutic methods from different literatures were evaluated, both pharmacological such as inositol, metformin, resveratrol, simvastatin, dapagliflozin, which showed great improvement, decreasing the levels of hyperandrogenism in patients, as well as nonpharmacological, of which significant improvements were found with a change in lifestyle, such as exercise, ketogenic diet and herbal medications such as chamomile and cinnamon, which showed a positive change in patients. It is important to make a diffusion and early diagnosis of PCOS, since in this way it will be possible to have a timely treatment, which can be individualized according to the characteristics and needs of each patient. Keywords: Polycystic ovary syndrome, Treatment, Comparison, Hyperandrogenism
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