骨钉和脱钙骨在骨创伤和骨缺损中的应用

目的：探讨同种异体冻干骨钉固定关节内骨折和脱钙骨移植治疗骨缺损的实用价值。方法：应用骨钉治疗关节内骨折７例，其中股骨头骨折４例，距骨骨折１例，内踝骨折２例；应用脱钙骨皮质骨条、松质骨粒移植治疗四肢骨折骨不连６例、骨良性病变切除术后骨缺损６例。结果：术后随访３～１２个月，骨钉固定者８个月后骨钉与宿主骨融合，脱钙骨皮质骨条和松质骨粒植骨者２～６个月愈合，无一例发生免疫排斥反应，近期效果满意。结论：认为骨钉为临床治疗关节内骨折提供了一种新的内固定材料，避免再次手术取内固定物，脱钙骨皮质骨条或骨粒适宜于骨不连和骨缺损的填充植骨治疗。     

The nephronophthisis complex

Summary The clinical and morphological findings are described in 27 children with nephronophthisis. Seventeen children were considered as sporadic cases. In 10 familial cases the presumed mode of inheritance was autosomal recessive. The clinical picture was rather uniform: polyuria-polydipsia, hyposthenuria, anemia, growth retardation, and azotemia with progressive renal failure. Six patients presented with tapeto-retinal degeneration. In a further seven children other ocular changes were detected. Two female siblings showed additional non-renal manifestations: mental retardation, pulmonary emphysema, skeletal anomalies, and congenital hepatic fibrosis.Renal histology displayed a chronic sclerosing tubulo-interstitial nephropathy with extensive tubular atrophy and dedifferentiation. Medullary cysts were frequently found in end-stage kidneys. Immunofluorescence was either non-specific or completely negative. On electron microscopy, the tubular basement membrane changes predominated: thickening, lamellation, splitting, and deposition of microfibrils within the increased basement membrane substance. Detailed light- and electron microscopic findings were non-specific but the overall morphologic picture was characteristic and even diagnostic in conjunction with the clinical presentation.A recurrence of nephronophthisis in transplanted kidneys has not been observed.The pathogenesis of nephronophthisis is obscure but with respect to the morphologic findings a primary or secondary tubular basement membrane defect seems very likely.Our experience suggests that nephronophthisis is a frequent cause of chronic renal failure in children and commonly associated with non-renal abnormalities. To avoid the separation of different syndromes presenting with a uniform renal disease but various non-renal manifestations, we suggest that the term nephronopthisis complex be used.Presented in part at the 63th Annual Meeting of the German Society of Pathology, Stuttgart 1979     

The risk for congenital heart defects in offspring of individuals with congenital heart defects

BACKGROUND: Congenital heart defects (CHDs) occur in approximately 1% of all live births. Although most CHDs are of unknown etiology, a family history of CHDs is a known risk factor, and offspring of individuals with CHDs are at a higher risk of having CHDs. The aim of this study was to investigate the relative risk for CHDs to offspring of individuals with CHDs. METHODS: The prevalence rates of CHDs in offspring of 203 individuals with CHDs and 282 individuals without CHDs were investigated. The study participants completed a questionnaire that included information on medical and reproductive history, lifestyle indicators, and family history of CHDs and other congenital malformations. The prevalence rates of CHDs in offspring were calculated. RESULTS: The prevalence of CHDs was 3.1% (18/575) in offspring of individuals with CHDs and 1.3% (8/589) in offspring of individuals without CHDs. The adjusted odds ratio for CHDs to offspring of parents with CHDs was 1.73 (95% confidence interval [95% CI] 0.89-2.44, p=0.02). The estimated relative risk for offspring to females with CHD was higher than for males [2.3 (95% CI 1.1-4.7, p=0.03) versus 1.31 (95% CI 0.48-4.30, p=0.66), respectively]. There was no suggestion of association between CHDs and maternal smoking, alcohol consumption, and use of medication during pregnancy. CONCLUSIONS: Offspring of parents with CHDs are at a higher risk for CHDs compared with the general population. Couples where one member is affected with CHD should receive pre-conceptional or pre-natal genetic counseling and should be informed about the magnitude of the potential risk of CHDs to the offspring.     

Travel vision in infant monkeys: Maturation rate and abnormal stereotyped behaviors

Three monkeys with travel vision and 5 controls were observed with their mothers during the first 6 months of age and then for another 3 months after they had been placed in social isolation. In the home cage, the experimental animals did not differ from controls except that two held a hand before their eyes in a stereotyped fashion not previously reported for animals. In an unfamiliar environment the blind animals did not look at an observer, threatened less than normal, and were awkward in moving around. Animals who held hands before eyes tended to approach a flickering visual stimulus.     

Steinfeld syndrome: Report of a second family and further delineation of a rare autosomal dominant disorder

We report on a fetus with alobar holoprosencephaly, microphthalmia, midline cleft lip and palate, absent nose, dysplastic ears, radial defects, pentalogy of Fallot, unilateral renal aplasia, absent gallbladder, vertebral anomalies, and absence of ribs. The father had a cleft palate, bilateral colobomas of the iris and retina, a bifid uvula, vertebral anomalies, and unilateral congential hearing loss. His sister had a cleft lip. On the basis of this family and the family reported by Steinfeld [1982], this malformation syndrome can be defined as a rare autosomal dominant syndrome whose main component manifestations are holoprosencephaly, predominantly radial limb deficiency, heart defects, kidney malformations, absence of gallbladder, and vertebral anomalies. © 1993 Wiley-Liss, Inc.     

Screening for coeliac disease as a possible maternal risk factor for neural tube defect

Coeliac disease is an important cause of malabsorption, particularly of folic acid, in adults. We investigated the possibility that it might be a maternal risk factor for neural tube defect (NTD)-associated pregnancy by screening affected mothers using serum endomysial antibody (EmA) which has high sensitivity and specificity for coeliac disease. One (1.6%) of 60 patients was EmA positive and had a diagnosis of coeliac disease confirmed by the finding of villous atrophy on jejunal biopsy. In conclusion, the majority of NTD-associated pregnancies are not associated with maternal coeliac disease and our study is additional evidence that abnormalities of folic acid metabolism rather than absorption are the most important risk factors for NTD. Further studies are needed to determine whether the coeliac disease prevalence among women with NTD-affected pregnancy is higher than that of the general population.     

Bilateral brain abscesses complicating the use of crutchfield tongs

The case of a 4-year-old girl who developed bilateral brain abscesses complicating skull traction is reported. Crutchfield tongs were used to reduce a fracture dislocation at C2–3. Presenting symptoms consisted of headaches and focal seizures. Surgical treatment and antibiotics using serial CT led to a satisfactory outcome. This is the first reported case of this complication in a child. The current literature is reviewed.To whom offprint requests should be addressed at Avda. Pio Baroja 4, 30011 Murcia, Spain     

成人室间隔缺损的外科治疗

目的：报告成人室间隔缺损的外科治疗经验。方法：对26例成人室间隔缺损的手术治疗进行回顾性分析。其中行室缺直接缝合3例,单纯补片修补19例,单向活瓣补片修补4例。同时行主动脉瓣折叠悬吊2例,双瓣置换l例,二尖瓣成成形l例,三尖瓣成形4例．结果：无手术死亡。术后并发症：切口感染、术后出血二次开胸止血、呼吸道感染和片周漏各l例,心动过速4例．术后随访24例(92．3％),随访时间1月～92月,晚期死亡l例,死因为片周漏并感染性心内膜炎．结论：成人室间隔缺损的临床表现虽较为复杂,手术效果令人满意．选择正确的手术方法及注意围术期处理是手术治疗成功的关键。     

自体骨膜游离移植修复关节软骨缺损进展

探讨自体骨膜游离移植修复关节软骨缺损的研究进展。从骨膜的解剖生理功能和骨膜再生软骨能力两方面进行分析,并阐述了关节内营养环境、关节活动、骨膜生发层不同朝向、年龄及手术技巧等因素对移植修复的影响。同时总结了该方法的临床应用状况、效果及存在的问题。实验及临床的研究证明自体骨膜游离移植是修复关节软骨缺损的重要手段,局部环境因素影响骨膜成软骨。     

带血管蒂髌骨移位修复膝关节面缺损的应用解剖

目的：研究用带血管蒂髌骨移位的方法修复股骨髁和胫髁关节面缺损。方法：用37例经动脉红色乳胶灌注的下肢标本,经解剖、厚切片和铸型研究髌骨的血供。观察30块髌骨和胫骨内外侧髁关节面的形态和面积。结果：供应髌骨的各支动脉在先在髌骨周围吻合成髌周动脉环,再由该环发支进入髌骨;参与形成髌周动脉环的主要动脉有膝上外动脉、膝下外动脉、膝降动上支,膝降动脉髌下支和膝下内动脉;髌骨关节面与股骨内外侧髁下关节面、胫骨内外侧形态大小相似。结论：带血管蒂骨可以移位至股骨内外侧髁、或胫骨内外侧髁,利用髌骨的关节面修复股骨髁或胫骨髁关节面缺损,以期最大限度地保留膝关节的功能。