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Annals of family medicine · 2026

Diagnoses Live in Relationships: Bedside Sense in the Age of Precision Medicine.

Personal NarrativeНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Yuan Ke, Lu Huifei, Zhan Huijing, Chen Yonghua, Zh Yilin, Wang Chunlin

Аннотация

Genomic tests can illuminate and mislead. I cared for a school-aged boy with short stature whose copy-number variant at 1q21.1-typically associated with variable neurodevelopmental and cardiac features rather than isolated short stature-seduced me into a syndromic label. I told his family that a "pathogenic" deletion likely explained his growth. Months later, family segregation testing contradicted the story: some short relatives lacked the deletion; a taller cousin carried it. His excellent response to growth hormone pointed to treatable growth hormone deficiency, not a genetic syndrome. I returned to the family to revise-both the diagnosis and my words. This reflection traces how the promise of precision medicine can eclipse bedside sense, and how apology, delabeling, and a new clinic script helped me re-center care on phenotype, family context, and uncertainty handled with humility.

Предметные рубрики MeSH

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты