Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome

Champion KJ, Bunag C, Estep AL, Jones JR, Bolt CH, Rogers RC, Rauen KA, Everman DB. Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome. BRAF, the protein product of BRAF, is a serine/threonine protein kinase and one of the direct downstream effectors of Ras. Somatic mutations in BRAF occur in numerous human cancers, whereas germline BRAF mutations cause cardio‐facio‐cutaneous (CFC) syndrome. One recurrent somatic mutation, p.V600E, is frequently found in several tumor types, such as melanoma, papillary thyroid carcinoma, colon cancer, and ovarian cancer. However, a germline mutation affecting codon 600 has never been described. Here, we present a patient with CFC syndrome and a de novo germline mutation involving codon 600 of BRAF, thus providing the first evidence that a pathogenic germline mutation involving this critical codon is not only compatible with development but can also cause the CFC phenotype. In vitro functional analysis shows that this mutation, which replaces a valine with a glycine at codon 600 (p.V600G), leads to increased ERK and ELK phosphorylation compared to wild‐type BRAF but is less strongly activating than the cancer‐associated p.V600E mutation.     

社区医护干预预防产后抑郁症的研究

[目的]调查产后抑郁症患者的现状及需求,探讨预防措施。[方法]定性与定量研究相结合,定性采用专题小组讨论和半结构性访谈,12人参加专题讨论、9人半结构性访谈;定量研究随机抽取本市各社区产后42d的产妇776例行问卷调查。[结果]产妇月子期间常发生头疼、恶心、焦虑、恐惧、失眠以及照顾新生儿困难;半结构性访谈中有1产妇处于产后抑郁症的临界,EPDS量表测定为12分;776例产妇月子里有身心健康问题者692例,求助者91.0%,其中需要社区护理人员帮助的71.7%,实际寻求帮助仅12.7%。[结论]预防产后抑郁症应实行社区医护人员培训与产后访视人员的准入制度,采取社区医护干预的三级预防,同时拓展社区产后保健服务的内涵。     

Waterloo Vision and Mobility Study: Normal gait characteristics during dark and light adaptation in individuals with age-related maculopathy

The purpose of this study was to evaluate the gait responses of individuals with low vision compared to those of normal-visioned individuals when their vision is challenged by extreme levels of light. Twenty subjects with age-related maculopathy (ARM) and 20 subjects with normal vision first walked along a flat, unobstructed path immediately after the ambient light level was changed from low (5 lux) to high (2500 lux). The procedure was repeated after the light was reduced from the high to the low level. Muscle activity, temporal and kinematic variables, and ground reaction forces were used to detect gait characteristics because of ambient light level changes. Data suggested that ARM subjects walked slower and with more caution than normal subjects but that these differences were not related to ambient light level. Head angle, an estimate of gaze direction, was lower for ARM subjects during high light, but the gaze direction for both groups was low during low light. Among these ARM subjects, extreme levels of ambient light did not affect gait; subjects made adaptations that were reasonable to encourage safe ambulation, despite the direction of light change. Normal-visioned individuals in this study experienced more difficulty in low light than high light situations.     

Effects of nicotine on bacterial toxins associated with cot death

Toxins produced by staphylococci and enterobacteria isolated from the nasopharynx of cases of sudden infant death syndrome (SIDS) have a lethal effect when injected into chick embryos. If the toxins are progressively diluted the lethal effect disappears, but certain combinations of toxins show synergy so that if sublethal doses are mixed a highly lethal effect is produced. In this paper it is shown that nicotine at very low concentrations (less than that produced in man by 0.05 cigarettes) potentiates the lethal action of certain SIDS associated bacterial toxins and markedly potentiates the lethal action of synergistic combinations of bacterial toxins. These results could explain, at least in part, why parental smoking increases the risk of SIDS. They also provide further support for the common bacterial toxin hypothesis of cot death.