Rethinking end-of-life care and palliative care : learning from the illness trajectories and lived experiences of terminally ill patients and their family carers

Lynn conceptualized end-of-life (EoL) care for patients with advanced chronic-progressive illnesses as a combination of life-preserving/palliative care, the palliative aspect gradually becoming the main focus as death approaches. We checked this concept by exploring the advanced-terminal illness trajectories of 50 patients. Strategies heralding active therapy exhaustion were the catalyst for a participant's awareness of terminality, but were not a decisive factor in the divergent EoL care pathways we detected. The terms life-preserving and palliative do not adequately capture EoL care pathways due to their conceptual ambiguity. Conversely, the concept of EoL care encompassing three palliative care modalities (life-prolonging palliative therapy, restorative palliative care, and symptom-oriented [only] palliative care), each harboring a different blend of life-preserving and symptom-comforting aspects, proved adequate. These modalities could run serially, oscillatorily, or parallelly, explaining the divergent EoL care pathways. We suggest an adjustment of the model of Lynn and reconsider the traditional palliative care concept

Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum

Myhre syndrome is a rare multisystem connective tissue disorder, characterized by short stature, facial dysmorphology, variable intellectual disability, skeletal abnormalities, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin. So far, all molecularly confirmed cases harbored a de novo heterozygous gain-of-function mutation in SMAD4, encoding the SMAD4 transducer protein required for both transforming growth factor-beta and bone morphogenic proteins signaling. We report on four novel patients (one female proband and her two affected children, and one male proband) with Myhre syndrome harboring the recurrent c.1486C>T (p.Arg496Cys) mutation in SMAD4. The female proband presented with a congenital heart defect, vertebral anomalies, and facial dysmorphic features. She developed severe tracheal stenosis requiring a total laryngectomy. With assisted reproductive treatment, she gave birth to two affected children. The second proband presented with visual impairment following lensectomy in childhood, short stature, brachydactyly, stiff skin, and decreased peripheral sensitivity. Transmission electron microscopy (TEM) of the dermis shows irregular elastin cores with globular deposits and almost absent surrounding microfibrils and suggests age-related increased collagen deposition. We report on the first familial case of Myhre syndrome and illustrate the variable clinical spectrum of the disorder. Despite the primarily fibrotic nature of the disease, TEM analysis mainly indicates elastic fiber anomalies