The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype

neurogenetics - Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy with a prevalence of 1 in 2500 individuals worldwide. Here, we report three Turkish siblings from...     

The Transmission of Trauma from Mother to Infant: Radioactive Residues and Counter-Transference in the Case of a Haitian Mother and Her Two-Year-Old Son*

ABSTRACT

Close observation of the interactions between a traumatised mother and her infant son provides information on the modes of transmission of psychic trauma in the mother–infant dyad. Following the presentation of a current literature review on the theme, the subject of “radioactive residue” and counter-transference in the transmission of psychic trauma from mother to infant will be illustrated through a clinical case study that focuses on a Haitian mother and her two-year-old infant son who has been referred to a “transitional care nursery” in urban Paris. The encounter with this mother–infant dyad is analysed through observing the quality of the interactions that take place between the mother and infant in order to determine how a particularly traumatic narrative impacts the mother–infant relationship, in addition to relations with the clinician. Mother and infant respond to one another through the emission and reception of “radioactive residues” as hypothesized by Gampel. This clinical case study shows that there is a need to consider transcultural factors and collective experience and history when analysing traumatic events. Additionally, the case study shows that counter-transference can be an effective clinical tool for gaining access to an infant's experience as the recipient of a traumatic narrative.     

儿科诊断性X线扫描家属知情与接受现状调查

目的:了解建德市基层医院儿科门诊进行X线扫描治疗中,家属对X射线检查的知情同意与接受现状。方法:随机抽取建德市属3家公立综合性医院共60位接受X线扫描的儿童患者家属为调查对象,发放自制调查问卷并统计分析。结果:55位(91.67%)患者表示治疗前主治医生只告知了X射线是诊断性检查,没有具体告知X射线的危害性;18位(30%)的患者家属不清楚辐射会对人体有损害,42位(70%)不清楚或不注意辐射警示标志,更不会主动要求防护措施,学历水平较高者及有从事医务工作背景者接受X射线检查的为12人(20%),明显低于学历水平低者或没有从事医务工作背景者的46人(76.67%),不知可否接受的有2人(3.33%)(P<0.001)。结论:基层医院儿科诊断性X射线扫描前的知情同意告知仍需加强,儿科放射检查偏多,应避免并加强宣传和教育。     

听神经瘤术后面神经功能损伤危险因素分析

目的分析影响听神经瘤患者术后短期及长期面神经功能的危险因素。 方法回顾性分析厦门大学附属第一医院神经外科自2015年1月至2018年6月收治的62例听神经瘤患者的临床资料。于术后7 d及术后6个月对所有患者的面神经功能进行评估。收集可能与患者术后早期及长期面神经功能障碍存在相关性的因素，采用Logistic单因素与多因素回归对相关因素与患者术后短期及长期面神经功能的关系进行分析。 结果术后7 d，21例（33.9%）患者面神经功能正常，41例（66.1%）患者出现面神经功能损伤；术后6个月，49例（79.0%）患者面神经功能为正常，13例（21.0%）患者面神经功能损伤。Logistic单因素回归分析结果显示：肿瘤最大直径越大、肿瘤与面神经黏连越紧密，患者术后7 d发生面神经功能损伤的可能性越大（P=0.002、0.002）；术前临床症状持续时间为患者术后6个月面神经功能障碍的危险因素（P=0.035）。Logistic多因素回归分析结果显示：肿瘤与面神经的黏连程度、肿瘤最大直径为患者术后7 d面神经功能障碍的独立危险因素（P=0.003、0.014）；术前临床症状持续时间、肿瘤最大直径为患者术后6个月面神经功能障碍的独立危险因素（P=0.010、0.030）。 结论肿瘤与面神经的黏连越紧密、肿瘤最大直径越大，患者术后7 d发生面神经功能损伤的可能性越大。患者术前临床症状持续时间越长、肿瘤最大直径越大，术后6个月发生面神经功能损伤的可能性越大。     

靶向测序诊断黑棘皮病1家系

【摘要】 报道临床症状不典型的家族性黑棘皮病1家系。先证者女，4岁，自1周岁时，颈部、腹部出现黑色斑片，近年来逐渐扩大至唇周、躯干前部。腹部皮肤全反式共聚焦显微镜检查可见乳头环下延扭曲及沟壑结构，乳头环内可见中高折光颗粒结构。先证者父亲及祖母既往有类似病史，但随着年龄增长色素沉着自发性消退，仅有局部皮纹增粗。采集先证者及父母、祖母外周血，对先证者外周血DNA行Panel靶向测序，结果显示，先证者存在FGFR3基因14号外显子c.1949A>C（p.Lys650Thr）错义突变，Sanger测序验证证实先证者及其父亲和祖母均存在此突变。诊断：家族性黑棘皮病。