Xp Microdeletion Syndrome Characterized by Pathognomonic Linear Skin Defects on the Head and Neck

Abstract: We describe a new case of a rare syndrome characterized by ocular abnormalities and pathognomonic linear skin defects. This syndrome is the result of an unbalanced translocation resulting in a deletion of the distal end of the short arm of the X chromosome. We report the thirteenth case and review the clinical and cytogenetic aspects of this disorder. In addition we discuss new findings pertaining to the histopathology of the skin lesions.     

Relationship between serum follicle stimulating hormone in the male and standard sperm parameters, and the results of intracytoplasmic sperm injection

Serum follicle stimulating hormone (FSH) is routinely measured when evaluating the infertile male for intracytoplasmic sperm injection (ICSI). However, among the sperm parameters, only its relationship with sperm concentration is well documented. Few investigations concern the relationship between FSH and sperm motility and morphology, and the results of ICSI. A retrospective study of 316 couples who underwent ICSI was carried out to determine the relationships between serum FSH concentrations in the male and (i) standard sperm parameters_(concentration, motility and morphology) and (ii) fertilization, cleavage, pregnancy and implantation rates after ICSI. There was an inverse correlation with sperm concentration and total motility but no relationship was found with progressive motility and sperm morphology. Neither was any relationship found between serum FSH and fertilization, cleavage, pregnancy and implantation rates, and the results of ICSI. These findings suggest the need to review the routine measurement of serum FSH in the infertile male when ICSI is the planned treatment procedure.      

用点突变的方法组建巨细胞病毒抗原决定簇基因的表达克隆

研究资料表明，人巨细胞病毒（ＨＣＭｖ）单一蛋白的单一抗原决定簇只能被部分患者阳性血清识别。组建在血清学诊断中能够替代全病毒抗原的基因工程抗原，需要含有病毒多种主要抗原蛋白的抗原决定簇。为搞清在表达载体中重复插入某一抗原决定簇基因是否能表达出更高抗原效价的融会蛋白，我们用点突变的方法，在表达载体中分别插入了人ＨＣＭｖ的ｐｐＵＬ３２蛋白羧基端一个抗原决定簇基因的１个、２个和３个拷贝。在免疫转印检测中，这些克隆表达的融合蛋白与特异性阳性血清的反应性差别不明显。这表明，插入表达载体中目的基因的多寡对表达蛋白的抗原效价没有显著影响。     

How effective is patient-controlled analgesia? A randomized comparison of two protocols for pain relief during oocyte recovery

Although the conventional method of pain relief during outpatient oocyte recovery involves physician-administered drugs, patient- controlled analgesia (PCA) offers an alternative technique with the potential to give women more control over peroperative analgesia. We conducted a prospective randomized study to compare the effect of fentanyl administered either through a PCA delivery system or by a physician. Thirty-nine women were randomized to PCA during egg collection while 42 were allocated to receive intermittent doses administered by a physician. Pain was evaluated by means of a 100 mm linear analogue scale. The mean (SD) pain score in the PCA group was 38.5 (19.8) while in the other group it was 46.1 (21.3) (P = 0.1). In the PCA group, 64% of women felt very satisfied with their analgesia as compared with 57% in the non-PCA group (P = 0.6). Among the PCA users, 39% of demands were successful. Significantly more fentanyl (97.5 microg) was used in the PCA group than in the other group (84.6 microg) (P = 0.03). Though intraoperative PCA with fentanyl is an effective alternative to physician-administered techniques, many women still feel the need for more analgesia during the procedure.