Confirmation of the GNB4 gene as causal for Charcot–Marie–Tooth disease by a novel de novo mutation in a Czech patient

The association of GNB4 with Charcot–Marie–Tooth (CMT) has recently been described in a publication by Soong et al. (Soong, et al., 2013). Here we present a patient with CMT in whom whole exome sequencing identified the mutation p.Lys57Glu in the GNB4 gene (NM_021629.3:c.169A>G). The patient, now 41 years old, is a sporadic case in the family. At the age of 35 he presented with severe disability (CMT neuropathy score 29), profound muscle atrophies, pes cavus and scoliosis. Previously, the patient was tested for PMP22 duplications/deletions and later also with 64 CMT gene panel, with no causal variant found. Subsequently, whole exome sequencing was performed. The p.Lys57Glu in the GNB4 gene was identified as the most probable causal variant, the mutation is not present in the patient's parents, neither in his unaffected sister, therefore we assume that the mutation arose de novo. Taken together, these findings support the causal and pathogenic character of the variant. Our report provides important evidence that GNB4 should become an established CMT gene and our findings confirm the original publication by Soong et al. (2013).     

MSI服务规程及CNP在宫内节育器嵌顿与异位手术中的应用

目的：探讨玛丽斯特普（MSI）服务规程和临床护理路径（CNP）用于宫内节育器（IUD）嵌顿和异位取出术中的实施效果。方法：选择2005年1月～2008年9月140例IUD嵌顿和异位需要手术治疗而无手术禁忌证者,分为门诊手术治疗组60例（门诊A组）,对照组60例（门诊B组）,住院手术治疗组20例（住院A组）,并选择2000年1月～2004年12月20例IUD嵌顿和异位需要手术治疗而无手术禁忌证者作为对照组（住院B组）。治疗组应用MSI服务规程和CNP,对照组行常规护理。观察两组受术者的焦虑水平、住院天数、住院费用、健康知识掌握和满意度有无差异及统计学意义。结果：治疗组术后焦虑水平明显低于对照组,治疗组住院天数为（8.5±1.5）d,对照组为（11.5±4.5）d,治疗组住院费用为（1800±180）元,对照组为（2600±350）元,治疗组受术者健康知识掌握评分为（27.5±4.1）分,对照组为（20.2±3.6）分,治疗组满意度为100.0%,对照组满意度为80.5%。经统计学处理差异有统计学意义（P〈0.05）。结论：MSI服务规程和CNP的应用降低了受术者的焦虑水平和住院费用,减少了住院天数,提高了受术者的健康意识和满意度。     

The Ability to Look: Management of Breast Disease in the Democratic Republic of the Congo Using Smart Ultrasound Technology

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Long-term results after triple arthrodesis: Influence of alignment on ankle osteoarthritis and clinical outcome

Background

Pain, deformity and instability are the main reasons for fusion of the tarsal joints, a triple arthrodesis. The short and midterm results show that mobility, function and satisfaction increase postoperatively. However, osteoarthritis (OA) of the adjacent ankle joint is described as a long-term complication. Alignment of the foot could be an influencing factor. The aim of this study was to examine whether malalignment after triple arthrodesis leads to a higher grade of OA at long-term follow-up.

Diabetes coexistent with Charcot–Marie–Tooth disease presenting as a recurrent foot ulcer misdiagnosed as diabetic foot: A case report

Both diabetes mellitus and Charcot–Marie–Tooth disease (CMT) can lead to severe peripheral neuropathy. The differential diagnosis of peripheral neuropathy is difficult due to the similar clinical features. There are still some clues, such as unusual muscle atrophy, unmatched severity of peripheral neurogenic damage with nephropathy or retinopathy, which could alert clinicians to make differential diagnosis. Although diabetes mellitus is rarely concurrent with CMT, it will exacerbate clinical disorders in patients with CMT. To date, there is no specific medicine for CMT treatment. Offloading devices and desirable comprehensive management of diabetes mellitus might be beneficial to avoid plantar ulcer recurrence and anti-progression of CMT.