胎儿和新生儿同种异体免疫性血小板减少症:进展与持续性争议

胎儿和新生儿同种异体免疫性血小板减少症(AIT)是引起胎儿和新生儿严重血小板减少的最常见原因.母亲针对源自父亲的胎儿血小板抗原的IgG抗体,在妊娠早期就可通过胎盘,通常导致胎儿严重血小板减少.由于一些血小板减少症临界值(50、100或150×109/L)的不同,他们的发生率亦各不相同.但在多数未经选择的人群中,AIT影响1/1 000到1/2 000活产数.在新生儿病房,临床确诊的重症AIT很罕见,可能只有1:10 000分娩数.     

Mapping of three novel loci for non‐syndromic autosomal recessive mental retardation (NS‐ARMR) in consanguineous families from Pakistan

Rafiq MA, Ansar M, Marshall CR, Noor A, Shaheen N, Mowjoodi A, Khan MA, Ali G, Amin‐ud‐Din M, Feuk L, Vincent JB, Scherer SW. Mapping of three novel loci for non‐syndromic autosomal recessive mental retardation (NS‐ARMR) in consanguineous families from Pakistan. To date, of 13 loci with linkage to non‐syndromic autosomal recessive mental retardation (NS‐ARMR), only six genes have been established with associated mutations. Here we present our study on NS‐ARMR among the Pakistani population, where people are traditionally bound to marry within the family or the wider clan. In an exceptional, far‐reaching genetic survey we have collected more than 50 consanguineous families exhibiting clinical symptoms/phenotypes of NS‐ARMR. In the first step, nine families (MR2‐9 and MR11) with multiple affected individuals were selected for molecular genetic studies. Two families (MR3, MR4) showed linkage to already know NS‐ARMR loci. Fifteen affected and 10 unaffected individuals from six (MR2, MR6, MR7, MR8, MR9 and MR11) families were genotyped by using Affymetrix 5.0 or 6.0 single‐nucleotide polymorphism (SNP) microarrays. SNP microarray data was visually inspected by dChip and genome‐wide homozygosity analysis was performed by HomozygosityMapper. Additional mapping was performed (to exclude false‐positive regions of homozygosity called by HomozygosityMapper and dChip) on all available affected and unaffected members in seven NS‐ARMR families, using microsatellite markers. In this manner we were able to map three novel loci in seven different families originating from different areas of Pakistan. Two families (MR2, MR5) showed linkage on chromosome 2p25.3‐p25.2. Three families (MR7, MR8, and MR9) that have been collected from the same village and belong to the same clan were mapped on chromosome 9q34.3. MR11 maps to a locus on 9p23‐p13.3. Analysis of MR6 showed two positive loci, on chromosome 1q23.2‐q23.3 and 8q24.21‐q24.23. Genotyping in additional family members has so far narrowed, but not excluded the 1q locus. In summary, through this study we have identified three new loci for NS‐ARMR, namely MRT14, 15 and 16.     

18F‐fluorodeoxyglucose positron emission tomography imaging in brain tumours: The Western Australia positron emission tomography/cyclotron service experience

¹⁸F‐fluorodeoxyglucose positron emission tomography (FDG‐PET) scans in the first 49 patients referred with either possible brain tumour or brain tumour recurrence were reviewed. FDG‐PET imaging was reported with reference to anatomical imaging. Based on the report the FDG study was classified as either positive or negative for the presence of tumour. Thirty‐eight cases were included in the analysis, 21 having pathological data and 17 with diagnostic clinical follow up. Eleven were excluded, as they had inadequate follow‐up data. Of the 21 cases with pathology, 18 were shown to have tumour. In this group there were five false‐negative scans and two false‐positive PET scans. Seventeen cases were assessed by clinical follow up, nine were considered to have been tumour. There were two false negatives with one false positive. The overall sensitivity, specificity and positive and negative predictive values were 74, 73, 87 and 53% respectively. This is similar to figures previously quoted in published work. Despite relatively limited numbers, the utility of FDG PET imaging in our hands is similar to published reports. With a positive predictive value of 87%, a positive FDG study indicates a high likelihood that there is brain tumour present. A negative study does not exclude the presence of tumour.     

The visual word form area: a prelexical representation of visual words in the fusiform gyrus

Event-related fMRI was used to test the hypothesis that the visual word form area in the left fusiform gyrus holds a modality-specific and prelexical representation of visual words. Subjects were engaged in a repetition-detection task on pairs of words or pronounceable pseudo-words that could be written or spoken. The visual word form area responded only to written stimuli, not to spoken stimuli, independently of their semantic content. We propose that the occasional activation of the fusiform gyrus when listening to spoken words is due to the topdown recruitment of visual orthographic or object representations.     

Effect of impaired recognition and expression of emotions on frontocingulate cortices: an fMRI study of men with alexithymia

OBJECTIVE: Although the brain areas involved in emotional response and in the recognition of others' emotions have been reported, the neural bases of individual differences in affective style remain to be elucidated. Alexithymia, i.e., impairment of the ability to identify and communicate one's emotional state, influences how emotions are regulated. Alexithymia has been hypothesized to involve anterior cingulate dysfunction. Therefore, the authors searched for differential cerebral regional activation in response to emotional stimuli in subjects with alexithymia. METHOD: Two groups of eight men each were selected from 437 healthy subjects on the basis of high or low scores on the 20-item Toronto Alexithymia Scale. Using functional magnetic resonance imaging (fMRI), the authors compared the two groups for their regional cerebral activation in response to the presentation of pictures with validated positive or negative arousal capabilities. RESULTS: Men with alexithymia demonstrated less cerebral activation in the left mediofrontal-paracingulate cortex in response to highly negative stimuli and more activation in the anterior cingulate, mediofrontal cortex, and middle frontal gyrus in response to highly positive stimuli than men without alexithymia. CONCLUSIONS: These findings provide direct evidence that alexithymia, a personality trait playing a role in affect regulation, is linked with differences in anterior cingulate and mediofrontal activity during emotional stimuli processing.     

难治性青光眼两种治疗方法的比较

临床资料 2003-02／2004—10，难治性青光眼36例36眼，(男19，女17)例；年龄37—81(平均59．6)岁；术前视力：无光感6例，光感15例，手动13例，眼前数指2例；术前眼压：在5．59—10．77(平均8．01)kPa；1例系玻切术后继发性青光眼，35例系新生血管性青光眼(其中：视网膜静脉阻塞15例，糖尿病视网膜病变18例，原因不明2例)．①眼内窥镜下睫状体光凝术18例：在角膜缘环形剪开结膜，充分止血；在