Psychosocial and clinical factors of probands impacting intrafamilial disclosure and uptake of genetic testing among families with BRCA1/2 or MMR gene mutations.

OBJECTIVE: Intrafamilial disclosure of hereditary cancer predisposition in BRCA1/2 and mismatch repair gene (MMR) syndromes allows appropriate prevention strategies in at-risk relatives. We previously showed in a nationwide study that the uptake of genetic targeted testing (GTT) in these families was only 30%. We aimed to identify the clinical and psychosocial factors affecting the probands' intrafamilial disclosure and relatives' uptake of GTT in BRCA1/2 or MMR syndromes. METHODS: We assessed clinical variables, family history, and psychosocial variables of probands (depressive symptoms, anxiety, alexithymia, optimism, coping, family relationship, perception of cancer risks, and of hereditary transmission), together with disclosure and uptake of GTT within 103 French BRCA1/2 or MMR families. RESULTS: Among relatives eligible for GTT, 68% were informed of the predisposition, and 37% underwent GTT, according to probands' reports. Intrafamilial disclosure was inversely associated with the degree of kinship (P < .01). In multivariable analysis, disclosure increased with time since probands' genetic diagnosis (P < .01) and probands' feeling of family cohesion (0.01). GTT uptake increased with probands' depressive symptoms (0.02) and decreased with probands' perception of cancer risks (0.03). BRCA1/2 and MMR groups did not differ concerning family information and GTT uptake. CONCLUSIONS: This study identified factors affecting disclosure to relatives and GTT uptake in BRCA1/2 and MMR syndromes and gives new insights to improve probands' follow-up and intrafamilial sharing of genetic information.

Becoming a first-time father during the COVID-19 pandemic in France.

The role of fathers in Western societies has undergone significant change over time. However, their psychopathology remains largely misunderstood and difficult to identify. This study aims to explore the lived experiences of first-time fathers during the COVID-19 pandemic. Twenty-seven first-time French fathers were recruited for the study, which involved a narrative interview, the Rorschach projective test, the Edinburgh Postnatal Depression Scale (EPDS), and a semi-structured interview. Narrative interviews revealed several challenges faced by these fathers, including the pressure of paternal responsibility, the need to be actively involved in the prenatal activities and caregiving (haptonomy, skin-to-skin contact), and concerns about the future of their couple and family as a triad. The Rorschach tests showed numerous perinatal responses and difficulties in identifying phallic representations among the fathers. Additionally, the EPDS scores indicated that 15% of fathers showed signs of depression, while 52% exhibited signs of anxiety. This study also examines the impact of the COVID-19 pandemic and its associated health context on creating the initial triad. Lastly, the case of one father is presented to illustrate the need for diagnostic tools to address the psychopathology of fathers, as narrative or semi-structured interviews have often fallen short of addressing this issue.

A retrospective review of cats with suspected false positive results in point-of-care feline leukemia virus tests and concurrent immune-mediated anemia.

OBJECTIVE: To describe clinical findings, diagnosis, treatment, and survival in 18 cats with anemia of suspected immune-mediated origin (ASIMO) and conflicting results using FeLV diagnosis tests, and to suggest an accurate way to assess their FeLV diagnosis. ANIMALS: 18 cats. PROCEDURES: Medical records from 5 veterinary institutions were retrospectively reviewed to identify cats with ASIMO, positive results on p27 SNAP ELISA, and negative results on pro-virus PCR testing in peripheral blood, in the absence of other identified triggers. Follow-up was recorded from diagnosis to the time of writing, and survival analysis was performed to assess similarities with previous published data. RESULTS: 18 cats were enrolled from referral centers in Spain, Italy, and the United Kingdom. Both peripheral immune-mediated hemolytic anemia (IMHA; 12/18) and precursor targeted immune-mediated anemia (PIMA; 6/18) were described. When the SNAP ELISA test was rechecked in patients with disease control, SNAP ELISA positive results had become negative. Two cats had a relapse of the ASIMO, and the FeLV SNAP ELISA tested positive again. Other signs of FeLV disease did not appear in any of these patients despite immunosuppression. 14 cats (14/18 [78%]) were alive at the time of writing, and the mean estimated survival time was 769 days. CLINICAL RELEVANCE: This study describes incongruent FeLV results in cats with ASIMO. It supports the necessity to confirm FeLV SNAP ELISA positive results using additional tools, such as pro-virus PCR testing, as different p27 point-of-care and external serological tests may be inconsistent.