HLA haplotype study of 53 juvenile insulin-dependent diabetic (I.D.D.) families

Fifty-three families with at least one IDD patient were genotyped for 5 markers of the HLA complex including Bf and DR. In 8 families one of the parents was also affected and in 12 families more than two children were diseased. In total, 76 patients were genotyped. Their haplotypes were compared with those of 106 unrelated controls (the parents of 53 genotyped families).

• 1) 

  Three haplotypes or segments of them (A2, Cw3, B15, BfS, DR4; Aw30, Cw5, B18, BfF I, DR3; and Al, Cw7, B8, BfS, DR3) were found more frequently in IDD patients.
• 2) 

  Measured by the 6 formula, the association of the postulated IDD susceptibility gene was very strong with the D-end of two of these haplotypes: BfF1, DR3 and BfS, DR4. However, the association was weak with the DR3 of the haplotype Al, Cw7, B8, BfS, DR3.
• 3) 

  An excess of HLA-identical affected siblings was found.
• 4) 

  An excess of DR3/DR4 heterozygotes was observed. By contrast, the observed frequency of patients homozygous for DR3 or DR4 was not increased, but even slightly decreased.

The data support a model of inheritance comprising at least two closely linked specifically "diabetic" loci (most of the time marked by B18, BfFl, DR3 and B15, BfS, DR4) and a non-specifically "diabetic" haplotype favouring auto-immunisation (most of the time marked by B8, BfS, DR3). This model is discussed in the light of the presented data and of those of the literature.     

Narrative medicine: feasibility of a digital narrative diary application in oncology

ObjectivesWe implemented narrative medicine in clinical practice using the Digital Narrative Medicine (DNM) platform.MethodsWe conducted a preliminary, open, uncontrolled, real-life study in the oncology and radiotherapy departments of Istituto di Ricovero e Cura a Carattere Scientifico National Cancer Institute Regina Elena, Rome, Italy. We recruited adult Italian-speaking patients who then completed the DNM diary from the start of treatment. The primary endpoint was DNM feasibility; secondary endpoints were health care professionals’ opinions about communication, therapeutic alliance, and information collection and patients’ opinions about therapeutic alliance, awareness, and coping ability. We used open- and closed-ended questions (scores 1 to 5) and a structured interview.ResultsThirty-one patients (67%) used the diary (84% women). Health care professionals’ mean scores for feasibility and utility were ≥4.0. Patients’ utility scores were related to health care professionals’ feedback regarding the narratives. The main advantages for health care professionals were the opportunity to obtain relevant patient data and to strengthen communication and patient relationships (mean scores 4.4–5.0). Both groups strongly encouraged introduction of the diary in clinical practice.ConclusionUse of the DNM in oncology patients assisted clinicians with understanding their patients experience.