Physician-patient relationship in rare diseases: an ethical approach

Hanganu, Bianca; Pharmacy, Iaşi; Manoilescu, Irina Smaranda; Birlescu, Elena A.; Mocanu, Veronica; Hlescu, Andreea A.; Ioan, Beatrice Gabriela

doi:10.31688/abmu.2019.54.1.23

Cited by 6 publications

(5 citation statements)

References 16 publications

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“…In some cases, the quality of patients' relationships with healthcare professionals seems to be even more important than active therapies targeting the disease, especially when there is little chance of recovery. Where chronic diseases are concerned, active care and the quality of relationships seem to be equal in importance (Hanganu et al, 2019 ). In recent years, several models have been developed.…”

Section: Introductionmentioning

confidence: 99%

Facing COVID-19 Between Sensory and Psychoemotional Stress, and Instrumental Deprivation: A Qualitative Study of Unmanageable Critical Incidents With Doctors and Nurses in Two Hospitals in Northern Italy

et al. 2021

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Background: The COVID-19 pandemic severely strained the already unprepared Italian healthcare system. This had repercussions on healthcare workers, stemming, in particular, from a lack of clear guidelines, adequate protective equipment, and professional preparedness. Such conditions were especially prevalent in Northern Italy.Objectives: This study aimed to examine COVID-19-related professional and psychoemotional stress among nurses and doctors in two hospitals in Northern Italy, along with the worst critical incidents affecting healthcare personnel. A parallel objective was to elicit healthcare professionals' opinions about what changes are needed in the healthcare system's operations, as well as about the relational/emotional skills that are needed to better manage relationships with patients in emergency situations.Participants: Snowball sampling was used to recruit participants and yielded 17 hospital professionals: six nurses (five female and one male) and 11 doctors (seven male and four female). Three of these professionals worked in intensive care and the others in different wards. All had close contact with COVID-19 patients.Methods: The study employed a qualitative research design, using in-depth interviews of ~60 min each that were conducted via Skype video calls. The interviews were recorded and transcribed, then analysed. The qualitative analysis employed mixed methods to identify the most relevant and recursive themes from the interviews.Results: Four fundamental themes emerged from our analysis of the interview texts: (1) disorganisation and psychoemotional stress; (2) urgency and critical incidents; (3) everything surreal; and (4) disruptions in empathetic relationships with patients.Conclusions: Through our analysis of the interview narratives, we found that systematic and in-depth psychological training is needed to prepare professionals for (1) altered relationships with patients in emergencies; (2) use of exceptional medical equipment; (3) elaboration of new bioethical models suitable for disasters and pandemics; and (4) engagement with the themes of death and dying.

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Section: Introductionmentioning

confidence: 99%

Facing COVID-19 Between Sensory and Psychoemotional Stress, and Instrumental Deprivation: A Qualitative Study of Unmanageable Critical Incidents With Doctors and Nurses in Two Hospitals in Northern Italy

et al. 2021

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“…Knowledge transfer can also give important context to health care professionals; however, the mother at provide positive outcomes. The experience of family caregivers also constitutes a valuable resource in finding and implementing solutions to improve the conditions of service delivery, quality of life of parents and children (9), and effects of treatment.…”

Section: Resultsmentioning

confidence: 99%

Early diagnosis and successful long-term management of a rare, severe lysosomal acid lipase deficiency/Wolman disease patient: Infancy to age five

Cossette

Castilloux

Bouffard

et al. 2022

CanLivJ

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BACKGROUND: This report describes a unique case of long-term survival of a young girl who was diagnosed with severe, rapidly progressive lysosomal acid lipase deficiency (LAL-D; historically “Wolman disease”) at three months of age and began receiving therapeutic interventions at four months of age. This disease involves rapidly progressive multisystemic impairments and limited survival (6–12 months) without treatment. METHODS: Case report taking into account clinical aspects and patient management including a semi-structured interview with the main family caregiver. RESULTS: Presentation at two months of age: severe malnutrition and chronic diarrhea; hypoalbuminemia; low iron, vitamin A, and vitamin D levels; high triglyceride levels; profound anemia; thrombocytopenia; adrenal calcifications; and mild hepatosplenomegaly. Enzyme replacement therapy (ERT) with sebelipase alfa, parenteral nutrition, and a low-fat diet began at age four months. The patient has received sebelipase alfa for >5 years with good tolerability and is thriving, with a body mass index of 16.35 kg/m2 (80th percentile) despite a stature delay (height <3rd percentile), and mild developmental delay. Optimal medical management requires that family caregivers and health professionals have the knowledge and skills to provide appropriate care and supports multidisciplinary teams through transfer of knowledge to all stakeholders. Effective coordination of services and activities related to child health and development, including navigation of administrative and financial barriers, is also imperative. CONCLUSIONS: Formerly fatal in untreated infants, severe LAL-D, when diagnosed early, can be promptly and effectively treated by combining sebelipase alfa ERT, modified diet, involvement of family caregivers, and multidisciplinary team collaboration.

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“…The case presented here exemplifies how challenging the care of persons with rare DSD can be. From the patients’ perspective the vulnerabilities lie in the search for the correct and early diagnosis, the amount of analysis and all kinds of costs involved (time, emotional, and why not, financial) which may not be reached before a pilgrimage through specialists and health services [ 32 , 33 ].…”

Section: Discussionmentioning

confidence: 99%

So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity

et al. 2022

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Background The Congenital Adrenal Hyperplasia due to 21 hydroxylase deficiency is the most common cause of genital ambiguity in persons with XX sexual chromosomes. Genital ambiguity among persons with XY sexual chromosomes comprises diverse and rare etiologies. The deficiency of 17-beta-hydroxysteroid dehydrogenase type 3 enzyme (HSD17B3) is a rare autosomal recessive disorder due to functionally altered variants of the HSD17B3 gene. In this disorder/difference of sex development, the conversion of androstenedione into testosterone is impaired. The appearance of external genitalia of 46,XY individuals varies from typically male to almost female. Case presentation We report on a child presenting severe ambiguous genitalia. Due to access constraints, specialized care did not start until the child was 10 months old. Parents are consanguineous and were born in an area of high isonymy that is a cluster for rare recessive diseases. A new homozygous missense variant c.785G > T was found in exon 10 of the HSD17B3 gene. Conclusions Researchers-clinicians and researchers-researchers collaborative efforts to elucidate the genetic basis of this disease were critical since this etiologic investigation is not available through the public health system. This case exemplifies the families’ pilgrimage in cases of genital ambiguity due to a rare genetic condition. Recognizing the etiology was the baseline to provide information on prognosis and treatment options, and to shelter family and child doubts and hopes in order to better support their decisions.

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Physician-patient relationship in rare diseases: an ethical approach

Abstract: La relation médecin-patients en cas de maladies rares ; une approche éthique

Cited by 6 publications

References 16 publications

Facing COVID-19 Between Sensory and Psychoemotional Stress, and Instrumental Deprivation: A Qualitative Study of Unmanageable Critical Incidents With Doctors and Nurses in Two Hospitals in Northern Italy

Facing COVID-19 Between Sensory and Psychoemotional Stress, and Instrumental Deprivation: A Qualitative Study of Unmanageable Critical Incidents With Doctors and Nurses in Two Hospitals in Northern Italy

Early diagnosis and successful long-term management of a rare, severe lysosomal acid lipase deficiency/Wolman disease patient: Infancy to age five

So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity

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