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Studies on disrespect and abuse/mistreatment/obstetric violence during pregnancy, childbirth and puerperium have increased in recent decades. However, researchers interested in the subject face many theoretical and methodological difficulties. In this sense, this study aims to discuss and reflect on how issues related to definition and terminology, measurement, and public policies in Brazil have hindered research on this topic and the mitigation of these acts. The first problem addressed was the lack of consensus regarding the terminology and definition of this construct. This situation causes a cascading effect, impacting the use of non-validated measurement instruments and, consequently, a lack of accuracy and comparability between studies. Another issue mentioned is the lack of studies exploring the consequences of these acts on women's and newborn's health, which is one of the main gaps on the subject today. The absence of causal studies affects health decision-making, impairing the elaboration of specific public policies.

Rare genetic diseases are an important public health problem, but they are still little studied in Collective Health. This article aims to analyze the 'therapeutic itineraries' of patients in search of a diagnosis and treatment for rare genetic diseases in the cities of Rio de Janeiro, Salvador and Porto Alegre. It focuses on the material challenges, emotional and structural problems faced in these trajectories. Semi-structured interviews were conducted with patients/caregivers and health professionals in the context of public health medical genetics. Our findings suggest that the experience of the rare genetic disease is aggravated by practical, inter-relational and bureaucratic/institutional problems. The reality of long and circuitous journeys to obtain a diagnosis, non-geneticists' lack of knowledge about rare diseases, difficulties in transportation and access to specialists, diagnostic and complementary examinations, and access to high-cost medicines and food supplies were common challenges in all the narratives examined in the three Brazilian cities. In addition, adherence to care provided by medical genetics requires action and strategies that depend on arrangements involving family members, physicians, patient associations, and the state.