1.A phenomenological study on the decision-making experience of breast reconstruction among breast cancer patients: from the perspective of ethics of care
Mengyu OU ; Fengmin CHENG ; Jiawenli LI ; Huan ZHANG ; Guofeng KUANG
Chinese Medical Ethics 2026;39(7):958-966
Against the backdrop of a continuously rising incidence of breast cancer globally, breast reconstruction surgery represents one of the key measures to improve patients’ quality of life. Ethics of care emphasizes paying attention to patients’ actual needs in doctor-patient interactions and advocates creating a decision-making environment that facilitates the explicit expression of these needs. Focusing on the decision-making process of 16 breast cancer patients who underwent breast reconstruction surgery and stemming from the perspective of ethics of care, this paper explored the realization paths of autonomy for breast cancer patients when confronting medical decisions on breast reconstruction from three aspects, including the situatedness, relationality, and practicality of ethics of care. The study found that under the ethics of care, the organic interaction of contextualized practice, relational negotiation, and subjectivity cultivation jointly constructed a dynamically evolving medical decision-making ecosystem. This ecosystem, with situational response capabilities based on embodied cognition, relational adjustment mechanisms linked by ethical negotiation, and dual-track support networks aimed at subject empowerment, ultimately achieved the in-depth integration of technical practice and humanistic care.
2.Disease spectrum and genetic profiles of neonatal inborn errors of metabolism in selected areas of Nanning city
Xiao QIN ; Juan KUANG ; Guofeng LAN ; Guixiang ZENG ; Yufang GU ; Xuekai SHI
Chinese Journal of Neonatology 2023;38(5):289-293
Objective:To study disease spectrum and genetic profiles of inborn errors of metabolism (IEM) among newborns in selected areas of Nanning city.Methods:From July 2019 to December 2021, neonates born and received IEM screening in our hospital were prospectively enrolled. Heel blood samples were tested using tandem mass spectrometry as IEM screening. Neonates with positive results were called back for recheck. Whole exome sequencing was used to detect possible pathogenic genes in suspected cases and IEM was diagnosed combining clinical manifestations. Sanger sequencing method was used for the diagnosed neonates and their parents to confirm the diagnoses.Results:A total of 16 207 live-birth neonates were enrolled. For initial IEM screening, 1 423 neonates were positive (8.8%) and 1 311 were called back (92.1%). 15 cases were suspected with IEM and 8 were diagnosed. The overall detection rate was 1∶2 026. Among 8 confirmed cases, 4 cases had amino acid metabolism disorders (2 cases of phenylketonuria, 1 case of Citrin deficiency and 1 case of tyrosinemia), 2 cases had organic acid metabolism disorders (1 case of methylmalonic acidemia and 1 case of glutaric acidemia) and 2 cases had fatty acid oxidation disorders (1 case of carnitine palmitotransferaseⅡdeficiency and 1 case of primary carnitine deficiency). 5 cases had homozygous genetic variants (2 in PAH, and 1 in SLC25A13, SLC22A5 and FAH, respectively) and 3 had heterozygous genetic variants (1 in CPT2, MUT, and GCDH, respectively). During follow-up, all 8 cases had normal growth and developmental outcomes after standardized treatment.Conclusions:The overall detection rate of IEM is high, with varied genetic profiles in selected areas of Nanning. Timely genetic testing may lead to early diagnosis and treatment and improve the quality of life of neonates.

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