Influence of the Parental Rhesus Types on the Segregation of Genetic Abnormalities

Abstract. Following the observation that in families with elliptocytosis parental Rhesus types may influence the elliptocytosis segregation in the children, the hypothesis has been put forward that in families with other genetic abnormalities, abnormal segregations of the affections may be expected to depend to some extent on the parental Rhesus types. Influence of the Rhesus type of the normal mating partners on the carrier: non-carrier segregation in the children has been demonstrated for abnormal serum cholinesterase and for the chromosomal translocation D/21. Children of normal E+ mating partners in families with abnormal cholinesterase were found to have an excess of non-affected; when the normal mating-partner is E- there is an excess of carriers. In families with D/21 translocation an excess of carriers was found when the normal parent is E+. In a pedigree with Wagner's syndrome no such influence could be demonstrated, the amount of genetic information available being, however, relatively small. In families with the nail-patella syndrome the Rhesus types of both parents appeared to be important, together with the sex of the offspring. Mating types involving Ccee produce an excess of non-affected children, those with CCee an excess of affected sons and a deficiency of affected daughters. Mating types with neither Ccee or CCee produce a relative excess of affected daughters.
These and other phenomena appear to indicate that genetic abnormalities are to some extent balanced polymorphisms, the selective mechanism being most probably selective fertilization. Selections of this kind, caused by the genetic, rather than by the external environment, may be of importance in limiting the increase of the genetic load in man which is generally expected to occur in the near future.     

不同溃疡程度糖尿病足患者的临床特点及预后分析

目的 总结糖尿病足的临床特点,分析预后.方法 选择2013年9月至2015年9月住院治疗92例糖尿病足患者,按Wagner不同分级分组,对比各组患者入院时的一般情况、检查结果,记录患足创面3个月愈合率,分析不愈合原因.结果 不同Wagner分级患者,年龄、糖尿病病程、糖尿病足溃疡持续时间、糖化血红蛋白、踝肱指数、血高密度脂蛋白、慢性肾脏病(CKD)3期以上比较,组间差异无统计学意义(P＞0.05).Wagner1级组创面持续时间较Wagner(2～5级)组短(P＜0.05).白细胞计数、C反应蛋白、血浆纤维蛋白原、血沉数值随着Wagner分级增加逐渐升高,血红蛋白、白蛋白、血胆固醇、血甘油三酯随着Wagner分级的增加逐渐降低,各组间差异有统计学意义(P均＜0.05).不同Wagner分级患足3个月愈合率组间差异有统计学意义(P＜0.05).结论 可以由炎性和营养状态指标结合糖尿病足溃疡Wagner分级,评估患足感染、坏疽情况.患足血供和足部坏疽程度决定了患足的预后.     

湿润烧伤膏治疗3～5级糖尿病足溃疡的临床体会

目的总结、分析湿润烧伤膏(MEBO)治疗3、4、5级糖尿病足溃疡(DFU)的临床疗效。方法对68例3、4、5级糖尿病足患者的98处皮肤溃疡创面全程采用MEBO规范治疗,并配合相应的基础治疗,观察并记录治疗16周后的创面愈合情况。结果经过16周的治疗,68例患者的98处皮肤溃疡创面的治愈率为73.47%,显效率为20.40%,有效率为6.10%,总有效率为100%。结论 MEBO治疗3、4、5级DFU的疗效显著,方法科学实用,值得临床广泛应用。     

Wagner Cone Midterm Survivorship and Outcomes

BackgroundTotal hip arthroplasty (THA) in patients with abnormal proximal femoral anatomy requires an individualized treatment approach to prevent complications. Metaphyseal engaging stems in this population risk fracture, size/offset mismatch, and aseptic loosening. The Wagner conical femoral implant is a short diaphyseal engaging femoral stem that could improve treatment success in this difficult patient population.MethodsWe identified 302 consecutive patients undergoing THA using the Wagner cone femoral prosthesis between January 2010 and January 2017. Clinical, radiographic, and patient-reported outcomes were obtained through chart review and radiographic measurements of postoperative X-rays. We used multivariate analysis to determine predictors of poor outcomes. Kaplan-Meier curves were created to demonstrate implant survivorship with reoperation and revision as endpoints. The average follow-up was 3.2 years, with a minimum of 2 years.ResultsThe implant retention survival rate during the 3.2-year study period was 98.7%. The overall reoperation rate was 4.2%, with infection followed by fracture being the most common reasons for reoperation. No patients were revised for aseptic loosening, and no patients were revised for subsidence. The average subsidence was 1.1 mm. The Harris Hip Score improved from 48.6 ± 7.3 (range, 28-64) preoperatively to 86.1 ± 8.5 (range, 66-100) at latest follow-up. The patient-reported satisfaction rate was 98.3%.ConclusionThe Wagner cone femoral prosthesis demonstrated excellent clinical, radiographic, and patient-reported functional outcomes at midterm follow-up. We recommend use of the Wagner cone in THA patients with challenging proximal femoral anatomy, small femoral diameter, or poor metaphyseal bone quality.     

Wagner Cone 生物型股骨假体置换联合转子下短缩截骨术治疗成人 Crowe Ⅳ型髋关节发育不良

目的探讨采用 Wagner Cone 生物型股骨假体行人工全髋关节置换联合转子下短缩截骨术治疗成人 Crowe Ⅳ型髋关节发育不良（developmental dysplasia of the hip，DDH）的早期疗效。方法2015 年 1 月—2017 年 6 月，收治 18 例（20 髋）Crowe Ⅳ型 DDH 患者。男 5 例（6 髋），女 13 例（14 髋）；年龄 20～67 岁，平均 42 岁。单髋 16 例，双髋 2 例。单侧患者患侧肢体较健侧缩短（4.76±2.59）cm，双侧患者双下肢等长。患髋“4”字征及 Trendelenburg 征均为阳性。术前 Harris 评分为（41.95±6.90）分，疼痛视觉模拟评分（VAS）为（5.05±1.15）分。影像学检测髋臼前倾角为（32.82±2.79）°，股骨前倾角（46.18±6.80）°，联合前倾角（79.01±7.54）°。采用 Wagner Cone 生物型股骨假体行人工全髋关节置换联合转子下短缩截骨术。术中截骨长度 2.0～3.5 cm，平均 2.38 cm。结果手术时间 116～161 min，平均 138.4 min；术中出血量 600～1 200 mL，平均 795 mL；术后引流量 100～630 mL，平均 252 mL。术后切口均Ⅰ期愈合。仅 1 例出现坐骨神经牵拉症状，对症处理后缓解。患者均获随访，随访时间 12～29 个月，平均 18.4 个月。患髋 “4” 字征及 Trendelenburg 征均为阴性。末次随访时 Harris 评分为（87.50±5.06）分、VAS 评分为（0.75±0.85）分。术后 2 d CT 测量患侧髋臼前倾角为（16.21±4.84）°、股骨前倾角（18.99±2.55）°、联合前倾角（35.20±5.80）°。上述指标与术前比较差异均有统计学意义（P<0.05）。单侧患者患侧肢体长度与健侧相差（0.72±0.70）cm，与术前比较差异有统计学意义（t=7.751，P=0.000）；双侧患者双下肢均等长。X 线片复查示截骨面均愈合，愈合时间 3～6 个月，平均 4.1 个月；无假体周围骨折、假体松动及下沉、脱位、异位骨化、骨溶解等并发症发生。 结论对于成人 Crowe Ⅳ型 DDH，Wagner Cone 生物型股骨假体置换联合转子下短缩截骨术可显著改善患者髋关节功能，恢复下肢长度，早期疗效较好，但需要进一步观察假体使用寿命及远期疗效。     

瓦格纳慢性病服务模型在中澳糖尿病管理中的运用

有效地管理慢性病是现代卫生保健系统发展的重点内容,国际上广泛运用的瓦格纳慢性病服务模型为指导慢病服务提供了有力的理论基础和实践框架。澳大利亚在全民医疗保险的制度下,已经形成了较成熟和有效的慢性病管理方法,我国慢性病管理正处于不断探索和创新的阶段。本文以糖尿病为例,解析瓦格纳慢性病服务模型六要素的具体内涵,并借鉴澳大利亚运用该模型在糖尿病管理的相关经验,针对我国以糖尿病为代表的慢性病管理现状和问题,提出可改善和促进我国糖尿病管理质量及结果的可实施的建议。     

基于多中心的中国糖尿病足患者临床资料分析

目的：通过多中心横断面调查探讨现阶段糖尿病足患者的临床特征、危险因素和影响病情严重程度的因 素。方法：采用统一制定的糖尿病足患者临床资料收集表,于2017年10月至11月收集全国13家三级综合医院326例糖 尿病足患者(男205例,女121例)的临床资料,分析其临床特征,并采用logistic回归分析发生重型糖尿病足的影响因 素。结果：在326例糖尿病足患者中,68.4%的患者年龄>60岁,60.1%的患者文化程度为小学或初中;96.3%的糖尿病 足发生于2型糖尿病患者,80.1%的糖尿病足患者糖化血红蛋白A1c(glycated hemoglobin,HbA1c)≥7%,60.1%的患者血 脂代谢异常。鞋袜穿着不当(38.5%)为发生糖尿病足的主要诱因。其并发症以糖尿病神经病变(76.7%)、糖尿病视网 膜病变(62.3%)和下肢血管病变(57.4%)最为多见。Logistic回归分析显示：糖尿病肾病、糖尿病下肢血管病变、HbA1c 水平为发生重型糖尿病足的独立危险因素,接受足部护理教育为其保护因素。结论：糖尿病足多发于男性、年龄偏 大、文化程度低、血糖控制差、血脂异常的2型糖尿病患者。其发生常有诱因,并伴有糖尿病并发症。糖尿病肾病、 糖尿病下肢血管病变、HbA1c和接受足部护理教育为糖尿病足严重程度的独立影响因素。     

Clinical Variability of Stickler Syndrome : Role of Exon 2 of the Collagen COL2A1 Gene

Stickler syndrome (progressive arthro-ophthalmopathy) is a genetically heterogeneous disorder resulting from mutations in at least three collagen genes. The most common disease-causing gene is COL2A1, a 54-exon-containing gene coding for type II collagen. At least 17 different mutations causing Stickler syndrome have been reported in this gene. Phenotypically, it is also a variably expressed disorder in which most patients present with a wide range of eye and extraocular manifestations including auditory, skeletal, and orofacial manifestations. Some patients, however, present without clinically apparent systemic findings. This observation has led to difficulty distinguishing this Stickler phenotype from other hereditary vitreoretinal degenerations, such as Wagner syndrome and Snowflake vitreoretinal degeneration. In this regard, review of the literature indicates type II collagen exists in two forms resulting from alternative splicing of exon 2 of the COL2A1 gene. One form, designated as type IIB (short form), is preferentially expressed in adult cartilage tissue. The other form, designated as type IIA (long form), is preferentially expressed in the vitreous body of the eye. Because of this selective tissue expression, mutations in exon 2 of the COL2A1 gene have been hypothesized to produce this Stickler syndrome phenotype with minimal or absent extraocular findings. We review the evidence for families with exon 2 mutations of the collagen COL2A1 gene presenting in a distinct manner from families with mutations in the remaining 53 exons, as well as other hereditary vitreoretinal degenerations without significant systemic manifestations.