Rare Diseases Symptoms Automatic Extraction

Coma and disorders of consciousness.

[locked-in syndrome]

Patients in coma, vegetative state/unresponsive wakefulness syndrome, and in minimally conscious states pose medical, scientific, and ethical challenges. As patients with disorders of consciousness are by definition unable to communicate, the assessment of pain, quality of life, and end-of-life preferences in these conditions can only be approached by adopting a third-person perspective. Surveys of healthcare workers' attitudes towards pain and end of life in disorders of consciousness shed light on the background of clinical reality, where no standard medical-legal framework is widely accepted. On the other hand, patients with locked-in syndrome, who are severely paralyzed but fully conscious, can inform about subjective quality of life in serious disability and help us to understand better the underlying factors influencing happiness in disease. In the medico-legal arena, such ethical issues may be resolved by previously drafted advance directives and, when absent, by surrogate representation. Lately, functional medical imaging and electrophysiology provide alternative means to communicate with these challenging patients and will potentially mediate to extract responses of medical-ethical content. Eventually, the clinical translation of these advanced technologies in the medical routine is of paramount importance for the promotion of medical management of these challenging patients.

Diseases presenting "pain" symptom

  • achondroplasia
  • acute rheumatic fever
  • adrenal incidentaloma
  • adrenomyeloneuropathy
  • aniridia
  • aromatase deficiency
  • carcinoma of the gallbladder
  • cholangiocarcinoma
  • coats disease
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • cushing syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dedifferentiated liposarcoma
  • dentin dysplasia
  • dracunculiasis
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • fabry disease
  • familial mediterranean fever
  • focal myositis
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • holt-oram syndrome
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kindler syndrome
  • lamellar ichthyosis
  • liposarcoma
  • locked-in syndrome
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • neuralgic amyotrophy
  • oligodontia
  • oral submucous fibrosis
  • papillon-lefèvre syndrome
  • phenylketonuria
  • pleomorphic liposarcoma
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyomyositis
  • scrub typhus
  • sneddon syndrome
  • systemic capillary leak syndrome
  • thoracic outlet syndrome
  • trochlear dysplasia
  • typhoid
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • wolf-hirschhorn syndrome

This symptom has already been validated