Evaluation of Functional and Joint Health and Associated Factors in Adults With Hemophilia From a Developing Country With Government-Backed Efforts to Improve Hemophilia Care.

Introduction Hemophilic arthropathy affects people with hemophilia (PwH) and causes joint dysfunction and disability. Brazil has a unique situation and implemented policies to improve health care for PwH. The aim of this study was to evaluate the Functional Independence Score in Hemophilia (FISH), Hemophilia Joint Health Score (HJHS), and associated factors among adult PwH attending a Hemophilia Comprehensive Care Center in Brazil. Methods A post hoc analysis was conducted, including 31 patients who had submitted to a physical evaluation during a previously published cross-sectional study performed from June 2015 to May 2016 at the Brasília Blood Center Foundation, Brazil. Results The mean age was 30.8±9.4 years, and 80.6% had severe hemophilia. FISH was 27.0±3.8, and HJHS 18.0±10.8. The ankle was the most often affected joint (25/31, 80.6%). There were significant correlations between FISH and HJHS scores and the Hemophilia Quality of Life Questionnaire for Adults. Patients with severe hemophilia (P = 0.029) and PwH aged ≥ 30 years (P = 0.049) had lower FISH scores. Monthly household income > 2 Brazilian minimum wages was independently associated with improved HJHS (P = 0.033). The factors simultaneously associated with better HJHS and FISH were age < 30 years (P = 0.021) and monthly household income < 2 minimum wages (P = 0.013). Conclusion FISH and HJHS showed favorable scores despite being performed in a country with unfavorable socioeconomic conditions. In addition to hemophilia severity and age, monthly household income was independently associated with functional and articular state of PwH. The results highlight the importance of the free provision of coagulation factors in Brazil.

Judicialization of coagulation factors in severe hemophilia: compliance with the care protocol and associated factors Judicialization and severe hemophilia.

OBJECTIVE: This study aimed to analyze the compliance with the assistance protocol and factors associated with the judicialization of coagulation factors in severe hemophilia patients. METHODS: A retrospective, cross-sectional study was conducted from June 2015 to May 2016 in adults with severe hemophilia in the Federal District, Brazil using data from their medical records and the Hemovida Web Coagulopathies System. RESULTS: One-hundred and three patients from Federal District, the capital of Brazil, were included in the study. The mean age of the patients was 34.6±10.1. Ninety-three received prophylactic treatment (90.3%) and 53 received recombinant coagulation factors (51.7%). Judicialization occurred in 21 cases (20.4%), 13 of whom disagreed with the assistance protocol (12.6%). In the univariate analysis, an association was observed between reduced judicialization and treatment (4.8 vs. 47.6%; p<0.001) in the hemophilia treatment center and an increase that was associated with use of the recombinant coagulation factor in disagreement with the protocol (38.1 vs. 6.1%; p<0.001). In the multivariate analysis, the odds ratio for judicialization was 0.081 (95% confidence interval [CI] 0.010-0.055) for treatment at the hemophilia treatment center and 5.067 (95%CI 1.392-18.446) for the use of recombinant coagulation factor not in compliance with the protocol. More inhibitor development in judicialized patients (33.3 vs. 4.9%; p<0.001) was found. CONCLUSIONS: The effectiveness of judicialization should be questioned, especially regarding coagulation factor prescriptions that are not in compliance with the protocol. The expense resulting from judicialization has not shown any benefit, and an even greater development of inhibitors during treatment in judicialized patients was found.

Factors Associated with Compliance with the Treatment Protocol and Mortality in Adults with Hemophilia.

OBJECTIVE: Hemophilia is associated with a high prevalence of disabilities and mortality. This finding can be influenced by patient compliance with the treatment protocol. This study aims to identify compliance with a treatment protocol in adult patients with hemophilia and to evaluate the factors associated with and the impact on mortality of noncompliance with a hemophilia treatment protocol. METHODS: This was a cross-sectional study that was performed between June 2015 and May 2016, followed by a cohort to evaluate mortality until July 2019 that included all adult patients with hemophilia registered in the Federal District, Brazil. RESULTS: Among 138 patients enrolled in the study, 35 patients were compliant with all items of the treatment protocol (25.4%). Regarding each item, compliance with the medical consultations was 71.0% (98/138); the clotting factor regimen was 65.9% (91/138); and the serological tests were 51.4% (71/138). The mortality was 7.2% (10/138). Noncompliance with any aspect of the protocol was associated with mortality: medical consultations (p<0.001), clotting factor regimen (p=0.013), and serological tests (p=0.006). All deaths occurred in those who did not comply with the protocol, and the majority were due to bleeding. Patients who were noncompliant with all protocol items showed the highest mortality (50.0%, 5/10). Treatment at the hemophilia treatment center (OR: 2.388; 95% CI: 1.052-5.418, p=0.037) was positively and independently associated with compliance with the protocol in multivariate analysis. CONCLUSION: Noncompliance with the treatment protocol was high. Treatment at a hemophilia treatment center was positively and independently associated with compliance with the protocol, which reinforces the importance of comprehensive care by a multidisciplinary team.

STOP-Bang questionnaire should be used in all adults with Down Syndrome to screen for moderate to severe obstructive sleep apnea.

STUDY OBJECTIVES: To determine the prevalence of obstructive sleep apnea (OSA) in adults with Down syndrome (DS), to investigate factors related to OSA severity and to identify which sleep questionnaire is the most appropriate for the screening of OSA in this population. METHODS: Cross-sectional study that consecutively included 60 adults with DS. All patients underwent type III polysomnography and clinical and laboratory data were collected; sleep assessment questionnaires were applied. Multiple linear regression models evaluated the associations between OSA severity (measured by the respiratory event index-REI) and clinical and laboratory data and sleep questionnaires (Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index, BERLIN and STOP-Bang questionnaires). RESULTS: Results show that 60 (100%) adults with DS had OSA, with moderate-severe OSA identified in 49 (81.6%). At the multivariate linear regression, REI significantly correlated with hematocrit levels, BMI and STOP-Bang questionnaire (SBQ) results (P <0.001). The positive STOP-Bang ≥3 points) showed 100% of sensitivity (95%CI: 92.75-100%), 45.45% of specificity (95%CI: 16.75-76.62), positive predictive value of 89.09% (95%CI: 82.64-93.34%), negative predictive value of 100%, accuracy of 90% (95%CI: 79.49-96.24%) and OR of 24.29. CONCLUSIONS: Adults with DS have a very high prevalence of OSA. Hematocrit levels, BMI and SBQ showed a strong correlation with OSA severity. The SBQ performed well in identifying moderate to severe OSA in this population. Considered together, these results point to the need to perform OSA screening in all adults with DS, and STOP-Bang may play a role in this screening.

Love and the Value of Life in Health Care: A Narrative Medicine Case Study in Medical Education.

This case study is an example of narrative medicine applied to promote self-awareness and develop humanistic contents in medical education. The impact and the human appeal of the narrative lie in the maturity and empathy shown by a student when reporting his dramatic experience during the care given to a newborn (with Patau syndrome and multiple malformations diagnosed at birth) and to her mother. The narrative approach helped the student to be successful in bringing out the meaning behind the story and to position himself from the mother's and newborn's perspective. The student's introspection changed a seemingly scary interaction into a positive experience, overcoming many initial negative emotions, such as fear, disappointment, horror, hopelessness, and insecurity in the face of the unexpected. It is uplifting how the student was strengthened by the power of maternal love to the point of overcoming any remaining feelings of eugenics or rejection. Other important lessons emerging from the case study were the art of listening and the value of silence. This narrative shows how the development of narrative competence can help establish a good physician-patient relationship, because the physician or the student with such competence usually confirms the patient's value and demonstrates concern for them, focusing on what they say and allowing genuine contact to be established, which is necessary for effective therapeutic alliance. The student's interpretations of the meaning of love and value of life inspired him on his reframing process of a medical practice marked by vicarious suffering.

Suicide is a Baobab Tree: A Narrative Medicine Case Study.

This case study is an example of applying narrative medicine as a useful tool for health professionals to manage an existential and complex scenario such as the suicide of a sibling. Some suicides are like baobab trees­these large and resilient trees grow deep roots for many years, only spreading their limbs above ground once they are firmly established. Like the baobab, when suicide or a suicide attempt occurs, suicidal ideations are well cultivated and have often already been repeatedly planted. Consequently, suicide is often difficult to prevent: once the death seed is planted, it is difficult to recreate life. Every year, more than 800,000 people die by suicide worldwide (1.4% of all deaths), which is approximately 1 person every 40 seconds. These unexpected deaths, predominantly occuring among young and middle-aged adults, have a continuing ripple effect and result in a huge economic, social, and psychological burden for individuals, families, communities, and countries. The complexity of suffering and pain experienced by suicidal individuals and their families, regardless of the success or failure of the suicidal act, is intensified by strong stigmas attached to traditional concepts of sin and eternal damnation. This unfortunate reality emerges in the narrative as a tragic family drama, which is permeated by deep feelings of helplessness. But suicide is preventable. Prevention requires 3 important factors: knowledge, public support, and creation of strategies to enact social change. Now is the time to act and make suicide prevention an imperative goal.

A model for humanization in critical care.

We present a case in which narrative medicine was used to assist a patient with amyotrophic lateral sclerosis who was dependent on mechanical ventilation and prolonged hospitalization. Implementing narrative medicine led to the development of more effective communication that strengthened the therapeutic relationship, enhanced humane care practices, and resulted in greater physical and psychological comfort for the patient. Narrative medicine is a discipline that has been progressively incorporated into medical training to restore a humane and individual physician-patient relationship. The patient is viewed, not merely as a case to diagnose, but as a person with a story that evokes emotions in those who assist him or her. In fact, narrative medicine can be understood as a model of medical practice based on narrative competence, ie, the ability to acknowledge, to absorb, to interpret, and to respond to a person's story. It strengthens empathy, rescues patient individuality, and facilitates solutions to conflicts in complex settings, such as critical care units, where clinicians are constantly exposed to existential issues, both moral and ethical.