Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders.

Heterozygous variants in the Poly(U) Binding Splicing Factor 60kDa gene (PUF60) have been associated with Verheij syndrome, which has the key features of coloboma, short stature, skeletal abnormalities, developmental delay, palatal abnormalities, and congenital heart and kidney defects. Here, we report five novel patients from unrelated families with PUF60-related disorders exhibiting novel genetic and clinical findings with three truncating variants, one splice-site variant with likely reduced protein expression, and one missense variant. Protein modeling of the patient's missense variant in the PUF60 AlphaFold structure revealed a loss of polar bonds to the surrounding residues. Neurodevelopmental disorders were present in all patients, with variability in speech, motor, cognitive, social-emotional and behavioral features. Novel phenotypic expansions included movement disorders as well as immunological findings with recurrent respiratory, urinary and ear infections, atopic diseases, and skin abnormalities. We discuss the role of PUF60 in immunity with and without infection based on recent organismic and cellular studies. As our five patients showed less-severe phenotypes than classical Verheij syndrome, particularly with the absence of key features such as coloboma or palatal abnormalities, we propose a reclassification as PUF60-related neurodevelopmental disorders with multi-system involvement. These findings will aid in the genetic counseling of patients and families.

Maoism and mental illness: psychiatric institutionalization during the Chinese Cultural Revolution.

This article offers a preliminary analysis of psychiatric treatment during the Chinese Cultural Revolution on the basis of interviews and rare case records obtained from 'F Hospital' in southern China. In contrast to the prevailing view of psychiatry during this time, which highlights either rampant patient abuse or revolutionary ideology, we show that psychiatric treatment at this facility was not radically altered by the politics of the Maoist period. Instead, treatments were informed by a predominantly biomedical understanding of mental illness, one that derived from the prior training of the facility's lead physicians. Although political education was nominally incorporated into patient rehabilitation and outpatient care, it was not a constitutive element of inpatient treatment during the acute phase of illness.

Acupuncture Anesthesia on American Bodies: Communism, Race, and the Cold War in the Making of "Legitimate" Medical Science.

This article explores the brief American fascination with acupuncture anesthesia, a technique in which needling was used in place of, or in combination with, chemical anesthetics during surgery. In 1971, a series of American medical delegations began traveling to China to observe the procedure and gauge its viability. While some of these physicians were optimistic about the technique's therapeutic possibilities, others were antagonistic to its feasibility in an American context. Previous studies have explained the quick rise and rapid delegitimization of acupuncture anesthesia by invoking the professional interests of biomedical doctors. In contrast, this article rethinks the history of the procedure by casting it against the backdrop of the Cold War. In discussions about the legitimacy of the technique, assumptions about race, communist politics, and Cold War bipolarity were omnipresent, causing acupuncture anesthesia to become a synecdoche for the promises and perils of Chinese communism writ large.

Bonds of time and space: Divination and the psychiatric encounter.

This essay examines the intersections between divination and psychiatry in the context of modern Chinese history. Throughout the 20th century, subsequent political regimes attempted to drive an ontological wedge between psychiatry, which was deemed scientific, and divination, which was deemed superstitious. While the dichotomy between science and superstition remains a powerful ideology today, it belies the use of divination as a psychotherapeutic tool. Occult practices such as fortune telling and shamanism complement the application of technical psychiatric skills by serving a crucial moral and interpersonal function, one that has important implications for the practice of mental healthcare both within and beyond Asia.

Embodied Minds: Hearts and Brains in Psychiatry and Chinese Medicine.

This article explores a debate that emerged within the Chinese medical community in the late 1920s and early 1930s. The debate, which centered on the respective roles played by the heart and brain in functions related to thinking, movement, and the onset of psychiatric disorders, concluded that neuropsychiatry's overriding emphasis on the brain was shortsighted. Instead, participants resolved that the brain and heart, alongside other organs and systems, were inextricably entwined, with many thought processes being governed by the heart. Although the discussion only lasted a few years, the insights it generated offer valuable theoretical contributions to contemporary conceptualizations of the mind/body duality. By highlighting alternative ways of understanding "mental" malfunction - theories that go beyond a narrow focus on the brain itself - Chinese medicine might provide a model for rethinking the relationships among the brain, the body, and different organs, systems, and physiological processes. The article ends by drawing a parallel between the heart vs. brain debate and recent research that seeks to show how gut health and heart health affect psychological and emotional wellbeing.

Case study: longitudinal treatment of adolescents with depression and inflammatory bowel disease.

OBJECTIVE: To assess longitudinal maintenance of improvements in depression, anxiety, global functioning, and physical health perception in 11 adolescents at 6 and 12 months following completion of manual-based cognitive-behavioral therapy. METHOD: Standardized instruments assessed follow-up changes in depression, anxiety, physical health, and global psychological functioning. RESULTS: At both assessments, 10 adolescents did not meet criteria for mood disorders. Improvements in depression, anxiety, global functioning, and physical health perceptions at completion of the cognitive-behavioral therapy were maintained during the 12-month period. Additional cognitive-behavioral therapy sessions (mean = 4.36; SD = 4.37) and psychopharmacology (n = 5) were required during the follow-up period. CONCLUSIONS: CBT with maintenance sessions and medication offers promise to adolescents facing comorbid depressive and physical disorders.