Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.

Schinzel-Giedion syndrome (SGS) is a severe multisystem disorder characterized by distinctive facial features, profound intellectual disability, refractory epilepsy, cortical visual impairment, hearing loss, and various congenital anomalies. SGS is attributed to gain-of-function (GoF) variants in the SETBP1 gene, with reported variants causing canonical SGS located within a 12 bp hotspot region encoding SETBP1 residues aa868-871 (degron). Here, we describe a case of typical SGS caused by a novel heterozygous missense variant, D874V, adjacent to the degron.

Assessment of therapeutic efficacy of chloroquine against falciparum malaria in an outbreak area in Xishuangbanna, Yunnan.

Objective: To investigate the failure of treatment with chloroquine in Yunnan in order to help formulate adequate antimalarial drug policy.

Methods: A World Health Organization 28-day in vivo test on therapeutic response for uncomplicated falciparum malaria in area with low or moderate transmission was adopted. Patients of age > or = 6 months old were admitted without limitation in density of parasitaemia and body temperature.