Genetics: Genetic analysis prior to selective fetal reduction in multiple pregnancy: technical aspects and clinical outcome

Multiple pregnancies resulting from ovarian stimulation areat a higher risk of carrying at least one fetus affected byMendelian or chromosomal anomalies, the incidence of which isdirectly related to the order of multiples. Genetic analysisbefore fetal reduction was offered to both high-and low-riskpregnant women carrying two or more fetuses after ovulationinduction. Chorionic villus sampling (CVS) and fetal reductionwere achieved by transabdominal needling. The use of short-termculture, the polymerase chain reaction and fresh tissue enzymaticanalyses have made it possible for genetic diagnosis to be availablein a few days. A total of 100 patients had multifetal pregnancyreduction performed by a single operator; all of them completedpregnancy and none was lost at follow-up. The total fetal lossbefore 24 weeks was 7% and no statistically significant relationshipwas found with the final number of fetuses and CVS. Perinatallosses (3.9%) were only present in the series with a final numberof two fetuses. Pregnancy duration and birthweight were significantlyhigher in singletons than in twins, but were not related toCVS. The rate of chromosomal disorders was higher (7.2%) inthe study series than in singleton pregnancies not undergoingfetal reduction. Diagnostic error due to incorrect samplingwas reported in 1.5% of cases. These data support fetal reductionas a valuable strategy to improve the outcome of multiple pregnancy.The outcome of pregnancies reduced to singletons was significantlybetter than of those reduced to twins, and was not related toCVS. Therefore, prenatal genetic diagnosis should become anintegral part of counselling on multiple pregnancy, and is stronglyrecommended when reduction to singleton pregnancy is requested.     

Transitional progressive multiple sclerosis: MRI and MTI findings

Transitional progressive multiple sclerosis (MS) is quite an unusual form of presentation and course of the disease. A case with this progressive form is presented and brain MRI and MTI findings are discussed in relation to the possible insight they may provide for understanding the mechanisms that determine progressive disability in MS.     

Open extremity fracture penetrating the skull

We present a case in which an open fracture of the ulna penetrated the skull and caused a comminuted, depressed skull fracture with a large intraparenchymal hematoma containing bone fragments.     

近节指骨段屈肌腱鞘不同范围损伤对肌腱功能的影响

目的 探索手指屈肌腱在近节指骨段不同范围损伤时对屈指肌腱功能的影响。方法 采用12只成人尸体手指。实验分为:第一阶段屈指肌腱完整,以后四个阶段依次沿近节指骨掌侧小线闭开小央1/4、1/2、3/4及全长。在掌指关节被动屈80°和掌指关节屈80°同时近侧指关节屈100°时,测量指浅屈肌腱(FDS)和指深屈肌腱(FDP)的滑动距离。根据肌腱力臂和滑动距离的关系,得出屈指肌腱在掌指关节处和近侧指间关节及肌腱在近节指骨段的弓弦畸形程度。结果 腱鞘中央1/4切开时,指屈肌腱的滑动距离、力臂均无显著变化;1/2切开后,单纯屈曲掌指关节时的FDS腱和掌指、近节指间关节屈曲时的FDS、HDP腱的滑动距离和力臂较腱鞘完整时显苫增大(P<0.05);切开3/4长度后,FDS、FDP腱滑动距离均有统计学意义变化,FDS、FDP腱力臂平均增加8～9％;全切开腱鞘,FDS、FDP腱滑动距离变化正统计学上有高度显著性(P<0.01),两腱力臂分别增加16％和15％。随腱鞘切开范围增大,FDS、FDP在近节指骨段的弓弦畸形程度也越来越大。结论 从肌腱的生物力学变化可见,近节指骨段腱鞘的小范围损伤如中间1/4以内损伤时,对肌腱功能影响小,可以不予修复;若损伤超过1/2长度,尤其对腱鞘全长损伤,应予以修复以恢复肌腱功能。     

Uhthoff's symptom in multiple sclerosis

A case report is presented in which a patient's initial complaint is of blurred vision after exercise (Uhthoffs symptom). Visual acuity and colour vision were found to be reduced after exercise. Additional neurological signs included homonymous scotomata and delayed visual evoked and somatosensory responses. Magnetic resonance imaging demonstrated multiple abnormal lesions in the brain. The significance of this symptom and its relationship to multiple sclerosis are discussed.     

Arthroscopy of the knee in children and adolescents

A retrospective review was done of 69 children and adolescents (7-17 years old) who underwent 75 arthroscopies of the knee during a 5-year period. Girls were overrepresented (71%). Thirty-eight were children under the age of 16. Of 46 injuries, 34 (74%) happened during sports. Children and adolescents were divided into two age groups based on their presumed state of skeletal maturity (boys 9–15 and girls 7–14 in group I and boys 16–17 and girls 15–17 in group II); meniscal lesions were equally common in the two groups, whereas anterior cruciate ligament tears were more common in older children (NS). Eleven of 17 (65%) anterior cruciate ligament lesions were combined with other intra-articular pathology, most often meniscal tears (9/11). As in other studies, half of the prearthroscopic diagnoses were incorrect. A high frequency of incorrect prearthroscopic diagnoses and of combined lesions justifies arthroscopy as an important diagnostic tool in children and adolescents with a history of twisting knee injury or chronic nonspecific knee problems. Girls practising ball games seem to be especially prone to knee injuries leading to arthroscopy.     

82例双胎妊娠及其围产儿分析

自１９８８年１月～１９９３年１２月我院共分娩１０１２４例，双胎８２例。结果表明：双胎组早产，妊高征、贫血、胎膜早破、产后出血和围产儿死亡率明显高于单胎组，为此提出：①有双胎家族史、由药物诱导排卵的孕妇、孕吐严重、先兆流产和子宫大于停经月份者应作Ｂ超检查，有助于双胎的早期诊断。②妊娠３２周以后，双胎孕妇应连续卧床休息，注意营养，治疗合并症，对减少早产、增加新生儿体重和降低围产儿死亡率有重要意义。     

大鼠头颅瞬间侧向旋转后脑干水肿的形成及其超微形态学基础

目的：探讨头颅瞬间旋转后脑干水肿的形成及超微形态学基础。     

Peripheral seventh nerve palsy due to transorbital intracranial penetrating pontine injury

The case of a child injured by a knitting needle penetrating transorbitally and intracranially, resulting in carotid cavernous fistula and pontine injury, is reported. After receiving medical and endovascular treatment, the only remaining abnormal neurological manifestation was right peripheral facial nerve palsy. The clinical sequences of events and the demonstration of a pontine lesion leading to peripheral facial palsy are presented. Facial nuclear injury with a penetrating trauma is an extremely rare condition. It is important to identify the anatomical regions injured in penetrating traumas. The lesions must be identified by computerized tomography, magnetic resonance imaging, clinical and laboratory investigation.