败血症弥散性血管内凝血时的白细胞溶血毒性的探讨

分别以凝血活酶和活大肠杆菌诱发家兔DIC,观察到活菌组血浆血红蛋白显著升高。同时WBC、MDA升高,而SOD活性显著下降。另分别以家兔贫白细胞血和富白细胞血与内毒素温育,结果前者溶血轻微,而后者溶血显著,且MDA升高。这表明感染致DIC时,内毒素等物质激活白细胞,可能通过自由基机制表现出溶血毒性。     

标准面移位进路术治疗颅中窝底前外侧良性肿瘤

目的：观察改良标准面移位进路术治疗颅中窝底前外侧良性肿瘤的可行性及效果。方法：对10例原发于翼腭窝、鼻咽部并向颅中窝海绵窦旁、颞下窝或翼颌间隙呈扩张性生长的较大良性肿瘤行单纯改良标准面移位进路和颅面联合进路2种术式切除,术中对面部切口、上颌骨拆卸、复位、固定、窦内黏膜取舍及鼻腔外侧壁保留等做了部分改进。结果：术后平均随访3年2个月,成功9例,死亡1例,无出血、感染和移位骨坏死脱出等并发症。结论：采用改良标准面移位进路术治疗颅中窝底前外侧良性肿瘤,手术安全,疗效好。     

11p15 duplication and 13q34 deletion with Beckwith–Wiedemann syndrome and factor VII deficiency

Here we report a patient with 11p15.4p15.5 duplication and 13q34 deletion presenting with Beckwith–Wiedemann syndrome (BWS) and moderate deficiency of factor VII (FVII). The duplication was initially diagnosed on methylation‐sensitive multiplex ligation‐dependent probe amplification. Array comparative genome hybridization confirmed its presence and indicated a 13q34 distal deletion. The patient's clinical symptoms, including developmental delay and facial dysmorphism, were typical of BWS with paternal 11p15 trisomy. Partial 13q monosomy in this patient is associated with moderate deficiency of FVII and may also overlap with a few symptoms of paternal 11p15 trisomy such as developmental delay and some facial features. To our knowledge this is the first report of 11p15.4p15.5 duplication associated with deletion of 13q34 and FVII deficiency. Moreover, this report emphasizes the importance of detailed clinical as well as molecular examinations in patients with BWS features and developmental delay.     

Effectiveness of different click stimuli in diagnosing superior canal dehiscence using cervical vestibular evoked myogenic potentials

Abstract Conclusion: Testing cervical vestibular evoked myogenic potential (cVEMP) in response to 90 dB nHL clicks can, in contrast to high-intensity 500 Hz tone bursts, be used as a screening test for superior canal dehiscence (SCD) syndrome. Objectives: cVEMP testing has its key clinical significance for evaluating saccular and inferior vestibular nerve function, but also for assessment of vestibular hypersensitivity to sounds in patients with SCD syndrome. The routine stimulus used in cVEMP testing is high-intensity 500 Hz tone bursts. The aim of the present study was to compare the high-intensity tone burst stimulation with less intense click stimulations for the diagnosis of SCD syndrome. Methods: cVEMP amplitudes in response to 500 Hz tone bursts and clicks were studied in 38 patients with SCD syndrome unilaterally. Results: cVEMP testing using high-intensity 500 Hz tone bursts did not consistently distinguish SCD patients. This nonfunctioning of high-intensity 500 Hz stimulation is most likely due to saturation. With 90 and 80 dB nHL clicks there is low risk for saturation and both these click stimulations were effective. Testing with both 80 and 90 dB nHL clicks did not have any significant advantage over just using 90 nHL dB clicks.     

Endotoxin-induced prostaglandin (PGF2α) biosynthesis,fever and miosis in dexamethasonetreated goats

Prostaglandin-releasing, adrenocortical, febrile and miotic responses to endotoxin (ET) (E. coil lipopolysaccharide; 0.25 μg kg^-1) were studied in goats with and without prolonged dexamethasone influence. The i.v. injection of ET induced a three-fold peak elevation in plasma 15-ketodihydro-PGF_2α at 1.5 h post-injection, that is, between the first and second phase of the temperature elevation. During the latter phase, the plasma concentration of this primary PGF_2α metabolite gradually returned to basal level, which implies that the second phase of ET fever is not PG dependent. The PG response exhibited a similar pattern, but was less pronounced in the dexamethasone-ET experiments, where the duration of maximum temperature elevation and of the miosis became shortened by about 20 min, and the typical biphasic pattern of ET fever was no longer seen. The ET-induced rise in plasma aldosterone concentration was completely blocked by dexamethasone. The corresponding rise in plasma cortisol concentration was prevented for 2 h, but was later only partially inhibited in spite of the repeated dexamethasone treatment.     

Partial trisomy 3q syndrome inherited from familial t(3;9)(q26.1; p23)

A five-year-old girl was referred to prometaphase chromosome analysis because of mental retardation, facial dysmorphic features suggestive of Cornelia de Lange syndrome, cleft palate and additional minor congenital malformations of the cardiac system and fingers and toes. A familial balanced translocation (3;9)(q26.1; p23) was found. The karyotype of the proposita was 46,XX,der(9),t(3;9)(q26.1;p23). Thus the patient was trisomic for 3q26.1-qter and monosomic for 9p23-pter. The unbalanced chromosome constitution was not detected by standard Q-banding analysis shortly after birth. The karyotype was misdiagnosed as 46,XX,9(p+) in the proposita and her mother, and thought to be a normal variant of chromosome 9. The repeated cytogenetic study led to the diagnosis of the translocation and to the possibility of prenatal diagnosis in the translocation carriers. A survey of 22 published cases of dup(3q) showed that nearly 60% were secondary to familial balanced rearrangements with an excess of maternally derived abnormal chromosomes 3. Red blood cell galactose-1-phosphate-uridyltransferase (GALT) activity was normal in the patient, consistent with previous assignment of the gene locus for GALT to 9p13 (Shih et al. 1982).     

Familial transmission of Wolf syndrome resulting from specific deletion 4p16 from t(4;8)(p16;p21) mat.

Wolf syndrome has been recognized since the mid-sixties. It has also been postulated that the loss of 4p16 is the primary reason for the syndrome. However, in a handful of cases the breakpoints have been identified, only a very few of which are exclusively 4p16. In this report we present familial transmission of 4p16 deletion (associated with 8pter----8p21 duplication) in three individuals with typical expression of Wolf syndrome. The transmission occurs from a de novo balanced maternal translocation, 46,XX,t(4;8)(p16;p21). An effort has also been made to distinguish the terminal deletion syndrome from the emerging interstitial deletion syndrome of 4p.     

Familial translocation t(10;14) (q26.1;q32.3): report of three offspring with 10q deletion and 14q duplication

We describe two brothers and a cousin with common clinical features, including mild mental retardation, motor delays, hypotonia with truncal ataxia, esotropia, and mild facial and hand dysmorphia. The initial routine chromosome study failed to detect any abnormality in the proband. Based on a high index of clinical suspicion, high-resolution chromosome studies were performed on the proband's parents. A small reciprocal translocation t(10;14) (q26.1;q32.3) was detected in the father. The breakpoint on the derivative chromosome 14 was further placed telomeric to the immunoglobulin heavy-chain gene cluster at the band q32.33 by fluorescence in situ hybridization. Studies of the proband and two affected paternal cousins revealed that each had inherited the same derivative chromosome 10 from their carrier parents. This unbalanced karyotype resulted from an adjacent-1 segregation of the 10;14 translocation.     

630例遗传咨询者的细胞遗传学研究

本文自1988年1月至1992年12月，对遗传咨询者疑有染色体异常进行了外周血染色体核型分析，检出染色体异常63例，占受检人数的10%。其中常染色体数目异常4例，占异常染色体6.3％；常染色体结构异常20例，占31.7%；性染色体数目异常26例，占41．3%；常染色体结构异常同时伴有性染色体数目异常1例，占1．6％；染色体变异5例，占7．9％；大Y染色体7例，占11.1％。异常核型涉及的染色体有2、3、4、5、7、8、9、11、12、13、14、15、17、18、21、22、X、Y，共18条。     

Detection of a human chromosomal translocation t(8;9) in a baby with multiple malformations using two-color fluorescence in situ hybridization

A human chromosomal translocation t(8;9) was detected using two-color fluorescence in situ hybridization with probes capable of staining the entire lengths of each of these chromosomes. The chromosome 8 probe was labeled with biotin and detected with Texas red, while the chromosome 9 probe was labeled with AAF and detected with FITC . In normal metaphase spreads, two metaphases from the proband, two red, one green and one part red and part green derivative chromosome were seen. The bicolor chromosome corresponded to translocation of a chromosome 8 segment to the distal part of the q region of one chromosome 9, as originally indicated by banding analysis. In interphase nuclei of the proband, four domains with bright fluorescence were recognized in many nuclei. Two were red, one was green, and the fourth had portions of both colors, indicating the presence of the translocation.