Skeletal manifestations in Fryns syndrome

We report on a female baby with Fryns syndrome who died soon after birth. The patient had short limbs, coarse face, hypoplastic lungs, diaphragmatic hernia, and acral hypoplasia. Literature review disclosed varying degrees of skeletal manifestations in Fryns syndrome; short limbs may be a component of Fryns syndrome. © 1995 Wiley-Liss, Inc.     

Oligodontia, short stature and small head circumference with normal intelligence

Complete absence of third molars and mandibular permanent second molars is reported in a 19-year-old female, with occipito-frontal head circumference and height at the 3rd centile. The patient's intelligence, appearance and physical examination were normal. Direct count of the patient's sweat pores in different areas of the palms and digits was normal. Microcephaly, short stature and normal intelligence have been reported in two families as a distinct autosomal dominant syndrome. To the best of our knowledge, oligodontia, in addition to these findings, has not been previously reported.     

Ring chromosome 15 and 15qs+ mosaic: Clinical and cytogenetic behaviour spanning 29 years

A phenotypic female with mild mental retardation, minor facial anomalies, and short stature has been evaluated clinically and cytogenetically over 29 years. At age 59, she remains physically well and shows no signs of dementia. Cytogenetic analysis, performed on peripheral blood specimens on 10 occasions between 1961 and 1990, showed mosaicism with one cell line containing a large stable ring (15) chromosome and another cell line without the ring but with a 15qs +. The different cell lines remained constant. The case provides information on the natural history of the ring chromosome 15 syndrome.     

股骨远端骨折两种固定方法对比研究

目的 对比应用逆行交锁髓内钉(GSH)和动力髁螺钉(DCS)内固定治疗股骨远端骨折的效果.方法 采用回顾性研究方法对我院自2000年8月～2004年10月治疗的54例股骨远端骨折病例进行对照研究,按A0分类:A1型17例,A2型14例,A3型11例,B1型2例,C1型6例,C2型3例,C3型1例.其中,DCS内固定30例,GSH固定24例.分组统计手术时间,出血量,骨折愈合时间,并发症,膝关节功能.结果 所有病例经5月～2年随访,平均9个月;骨折愈合时间为4.6月(4～9月).DCS固定组平均手术时间1.5小时(1～2.5小时).出血量105 ml(50～200 ml),骨折愈合时间平均4.7月(4～8月),并发症发生5例(发生率16.7%),根据Kolmert膝关节功能评分,优20例,良6例,可4例,优良率为86.6%.GSH固定组手术时间1.8小时(1.5～3.5小时).术中出血量平均120 ml(100～250 ml),平均骨折愈合时间5.1个月(4.5～9个月),并发症发生5例(发生率28%),根据Kolmert膝关节功能评分标准,优15例,良7例,可2例,优良率为91.7%.两组比较,结果无显著差异(P＞0.05) 结论 逆行带锁髓内钉(GSH)及动力髁螺钉(DCS)均是治疗股骨远端骨折的较好方法,但各有其最佳适应症.选择好适应症以及术者技术熟练有利于骨折愈合及关节功能恢复.     

青岛地区D6S477等五个短串联重复序列基因座的遗传多态性研究

目的 了解D6S477等5个基因座在青岛地区汉族群体中基因型分布及等位基因频率等遗传多态性数据，初步探讨其应用价值。方法 收集200名青岛地区汉族无关个体的静脉血，ACD抗凝，采用Chelex法提取DNA，应用聚合酶链反应技术，扩增D6S477、D9S1118、D18S865、D19S400和D20S161基因座的短串联重复序列，聚丙烯酰胺凝胶垂直电泳，银染显色分型。结果 获得了青岛地区汉族群体上述5个基因座的等位基因频率，基因型分布均符合Hardy-Weinberg平衡（P〉0．05）。结论 这5个基因座在青岛地区汉族群体中有较高的非父排除率和个人识别机率，在遗传学研究中有较高的应用价值。     

鄂伦春族Y染色体短串联重复序列多态性研究

目的 调查鄂伦春族Y染色体上10个短串联重复序列基因座及单倍型的遗传多态性。方法 应用PCR和变性聚丙烯酰胺凝胶电泳结合银染显色分型技术，检测102名无关系鄂伦春族男性血样。结果 在DYS392、DYS438、DYS439、DYS456、DYS459、DYS460、DYS461、DYS462、DYS389Ⅰ、DYS389Ⅱ等10个基因座中共检出44个等位基因，等位基因频率分布在0．418（DYS461）至0．727（DYS389Ⅰ）之间，除了DYS461（0．418）和DYS462（0．479）以外，其余等位基因频率均大于0．5。由10个基因座组成的Y染色体单倍型系统单倍型有101种，单倍型频率0．99。结论 上述10个Y-短串联重复基因座在鄂伦春族群体中具有较好的多态性，单倍型具有很高的遗传多态性。     

Brunner's gland metaplasia of residual jejunum developed long after wide resection of the small intestine

We report a rare case in which mucous glands, similar to pyloric or Brunner's glands, developed in the residual jejunum (46 cm in length) long after wide resection of the small intestine. The mucous glands were observed in the mucosal and submucosal layers near the duodenum, and the mucin showed a positive reaction by paradoxical concanavalin A staining and immunoreactivity for HIK-1083, which were histochemically the same as those in the pyloric/Brunner's glands. This type of metaplasia in the small intestine without ulceration has not been described in the literature so far. It was speculated that these glands developed as a defense response or adaptation against relatively excessive acid due to the short small intestine.     

Further delineation of the Beemer–Langer syndrome using concordance rates in affected sibs

Six familial cases of the Beemer–Langer syndrome (BLS) were analyzed to further elucidate the spectrum and frequency of anomalies observed in this disorder. Preaxial polydactyly was found in 3/6 affected sibs, and, therefore, its frequency previously may have been underestimated. Some patients, described as infants affected with the Majewski syndrome (MS) or “atypical” short rib-poly-dactyly conditions, may indeed have BLS. A high frequency of brain defects (16/26) and cleft tongue, oral frenula, and/or natal teeth (13/29) widens the list of typical findings in this syndrome. The specific type of tibial defect seems to be the most important discrimination of the MS and the BLS. © 1994 Wiley-Liss, Inc.     

The effect of encasings on quality of life in adult house dust mite allergic patients with rhinitis, asthma and/or atopic dermatitis

BACKGROUND: Environmental control has been put forward as an integral part of the management of house dust mite (HDM) allergy in sensitized patients. To validate this statement allergic disorders involved in HDM allergy--allergic asthma, rhinitis and atopic eczema/dermatitis syndrome (AEDS)--should be taken together and studied in terms of the efficacy of environmental control. Because a generic quality of life questionnaire exceeds the border of disease, this may be used as major outcome parameter. RESEARCH OBJECTIVE: To study the effects of bedding encasings in HDM allergic patients with asthma, rhinitis and AEDS. MATERIAL AND METHODS: A total of 224 adult HDM allergic patients with rhinitis and/or asthma and/or dermatitis were randomly allocated impermeable or nonimpermeable encasings for mattress, pillow and duvet. Short form 36 (SF-36) was filled in at baseline and after 12 months. Results: Lower physical (P = 0.01) and emotional (P < 0.001) sumscores were seen in females. Also, the presence of asthma resulted in lower physical sumscore (P = 0.01). However, no effect was seen of encasings on either sumscore. CONCLUSION: Bedding encasings do not improve quality of life in a mixed population of subjects with combinations with rhinitis, asthma and atopic dermatitis and sensitized to HDMs.     

逆行带锁髓内钉治疗股骨远端骨折的应用解剖

目的:为带锁髓内钉治疗股骨远端骨折提供形态学基础。方法:①选用30例成人干燥股骨测量股骨内外侧髁、内外上髁、髁间窝有关数据进行统计分析。②20侧下肢标本解剖观测膝降动脉及隐神经髌下支的分支、分支等及两者的关系。结果:髁间窝呈U型占35%,V型占65%,此窝最宽处横径:左侧(1.98±0.36)cm, 右侧(2.06±0.29) cm;内侧髁后关节面宽,左侧(2.21±0.23) cm,右侧(2.34±0.29) cm;内、外上髁的距离,左侧(7.30±0.60)cm,右侧(7.43±0.57)cm。膝降动脉髌下支和隐神经髌下支呈紧密的伴行关系。隐神经在缝匠肌中下1/3交界点穿出,有上、下两支分布到膝关节前外侧皮肤。结论:术中注意这些解剖位置特点,避免损伤神经和血管,减少手术出血,防止并发症。