We present a rare case of 8q interstitial duplication derived from maternal balanced translocations in a patient with bilateral cleft lip and palate in syndromic form associated with other congenital malformations. G-banding cytogenetic analysis revealed a chromosomal abnormality in the form of the karyotype 46,XX der(22)t(8;22)(q22.1;p11.1)mat. Chromosome microarray analysis evidenced a 49 Mb duplicated segment of chromosome 8q with no pathogenic imbalances on chromosome 22. Two siblings also carry the balanced translocation. We have compared this case with other “pure” trisomies of 8q patients reported in the literature and with genome wide association studies recently published. This work highlights the involvement of chromosome 8q in orofacial clefts.
Background: Interstitial lung diseases (ILDs), regardless of their etiology, have an impact on patient quality of life at some point. Dyspnea, which is the most common symptom, cannot be treated with the main drugs available. Alternatives such as pulmonary rehabilitation, oxygen supplementation, yoga, and mindfulness practices can help in the care of patients with ILD.
Objective: To explore the perceptions of gratitude by patients with various ILDs during a mindfulness-based intervention.
Methodology: This was a qualitative study involving 50 patients with various ILDs. Data were collected through transcription of expressions of gratitude during weekly sessions. For the qualitative evaluation of the data, a six-phase thematic analysis was used.
Results: The results obtained allowed the construction of five thematic categories of gratitude: recognition of the existence of a God, religious beliefs being evident in the statements of several patients, who relied on it as a strategy for coping with the disease; the possibility of autonomy, perceived in the importance placed upon being able to perform simple, routine tasks; the presence of family and friends; the assurance of treatment by the health care team and the treatment itself; and the changes achieved through the mindfulness training.
Conclusion: Despite the severity and limitations imposed by the disease, the participants were able to perceive the importance and meaning of the presence of family and friends, spirituality, the medical team, and mindfulness in their lives.
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