Association between asthma and an intragenic variant of CC16 on chromosome 11q13

The β subunit of high affinity immunoglobulin E (IgE) receptor (FcɛRIβ) and the Clara cell derived inflammatory molecule, CC16 have been cited as candidate genes for atopic asthma on chromosome 11q13. A genetic association study was performed with an intragenic microsatellite repeat of CC16 gene on chromosome 11q12–13 in relation to atopic and non-atopic asthma. Whereas variants of FcɛRIβ at chromosome 11q13 show association with atopy and asthma, no significant association was found between asthma and CC16 genotypes irrespective of atopic status. These data support the candidacy of FcɛRIβ rather than CC16 for the atopic asthma locus on chromosome 11q.     

Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer

To date, at least four genes involved in DNA mismatch repair, hMSH2, hMLH1, hPMS1 and hPMS2, have been demonstrated to be altered in the germline of patients with hereditary nonpolyposis colorectal cancer (HNPCC). Additionally, defective mismatch repair is thought to account for the observation of microsatellite instability (MIN) in tumors from these patients. The genetic defect responsible for the MIN+ phenotype in sporadic colorectal cancer, however, has yet to be clearly delineated. In order to better understand the role of somatic and germline alterations within hMSH2 and hMLH1 in the process of colorectal tumorigenesis, we examined the entire coding regions of both of these genes in seven patients with MIN+ sporadic colorectal cancer, 19 patients with familial colorectal cancer, and 20 patients meeting the strict Amsterdam criteria for HNPCC. Thirteen germline, two somatic, and four neutral alterations were identified. The two somatic mutations occurred in patients having familial cancer, while the germline mutations were distributed among one sporadic (14%), three familial (16%), and nine HNPCC (45%) cases. All patients with identified mutations in the mismatch repair genes, whose tumors were available for analysis, demonstrated MIN. On the other hand, we could not identify mutations in the subset of clinically defined HNPCC patients with MIN negative tumors nor in the majority (6/7) of MIN+ sporadic tumors.      

贴耳穴治疗慢性鼻炎35例的疗效

０　引言　慢性鼻炎是一种常见的多发病．中医认为,人体卫气不固之时感受外邪而发病．由于四时气候变化不同及人体差异,而有夹寒、夹热、夹暑、夹湿之别,以风寒、风热为多见．肺合皮毛,开窍于鼻,病邪侵袭致使卫气闭郁,肺气不宜,而恶寒发热,鼻塞、流涕．如急性期不及时治疗、鼻塞加重,鼻分泌物增多．西医可诊断为,单纯性鼻炎,肥厚性鼻炎,慢性鼻窦炎等．目前,对慢性鼻炎治疗效果不佳．我科采用贴耳针治疗本病,取得了较满意效果．１　对象和方法１．１　对象　１９９２～１９９８我科收治慢性鼻炎患者３５例．均作者简介：孙　静…     

Mechanisms of orientation of the pelvifemoral base during static loading of the lumbar spine in weight-lifters

Summary Under static loading during weight-lifting, the lumbosacral spine essentially exhibits horizontalisation of the base of the sacrum (superior plateau of S1). We have attempted to elicit the mechanism of this horizontalisation by means of radiographs. These do not demonstrate any movements of the sacroiliac joints or plasticity of the hip bones. However, a symmetrical rotation of the hip joints conditions a retroversion of the pelvic girdle which explains the horizontalisation of the upper sacral plateau. This fixation of the block of the pelvic girdle is under muscular control, so that this mechanism can be improved by appropriate training.

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Mécanismes d'orientation du socle pelvi-fémoral au cours de la mise en charge statique du rachis lombaire chez l'haltérophile

Resumé Sous charge statique, chez l'haltérophile, le rachis lombosacré présente essentiellement une horizontalisation du plateau supérieur de S1. Par radiographies, nous avons tenté de déterminer le mécanisme de cette horizontalisation. Les mouvements au niveau de la sacro-iliaque et la plasticité des os coxaux ne peuvent pas être mis en évidence sur les radiographies. Par contre, une rotation symétrique des coxo-fémorales détermine une rétroversion de la ceinture pelvienne permettant d'expliquer l'horizontalisation du plateau sacré. Ce verrouillage du bloc de la ceinture pelvienne est sous la dépendance des muscles et en conséquence, ce mécanisme peut être amélioré par un entraînement approprié.

     

Identification and characterization of a de novo partial trisomy 10p by comparative genomic hybridization (CGH)

We report the characterization of a de novo unbalanced chromosome rearrangement by comparative genomic hybridization (CGH) in a 15-day-old child with hypotonia and dysmorphia. We describe the combined use of CGH and fluorescence in situ hybridization (FISH) to identify the origin of the additional chromosomal material on the short arm of chromosome 6. Investigation with FISH revealed that the excess material was not derived from chromosome 6. Identification of unknown unbalanced aberrations that could not be identified by traditional cytogenetics procedures is possible by CGH analysis. Visual analysis of digital images from CGH-metaphase spreads revealed a predominantly green signal on the telomeric region of chromosome 10p. After quantitative digital ratio imaging of 10 CGH-metaphase spreads, a region of gain was found in the chromosome band 10p14-pter. The CGH finding was confirmed by FISH analysis, using a whole chromosome 10 paint probe. These results show the usefulness of CGH for a rapid characterization of de novo unbalanced translocation, unidentifiable by karyotype alone.     

Whole-body lymphangioscintigraphy: preferred method for initial assessment of the peripheral lymphatic system

In 20 patients with congenital and acquired lymphedema in either upper or lower extremities and in four patients without extremity edema, human serum albumin labeled with technetium-99m was injected intradermally into a digital web space of the hand or foot. With a digital gamma camera that permitted a "sweep" of the torso, serial extremity and whole-body lymphagioscintigraphy (LAS) of the peripheral lymphatic system was performed. In 11 patients with acquired lymphedema, a well-defined obstructive pattern was seen, characterized by discrete peripheral lymphatic trunks, delayed or absent depiction of regional nodes, and delayed but extensive soft-tissue tracer extravasation. Five of nine patients with congenital lymphedema showed hypoplasia characterized by poorly defined lymphatic trunks, delayed depiction of regional nodes, and early and extensive extravasation of tracer. The other four patients showed aplasia, with absence of trunks, no depiction of nodes, and little or no tracer extravasation. LAS is technically simple to perform and requires no special training. Radiation exposure is minuscule, and the procedure is safe and without apparent side effects. For these reasons, whole-body LAS should be the preferred method for the initial assessment of congenital or acquired lymphedema.