Provisionally unique autosomal recessive chondrodysplasia punctata syndrome

Stippled epiphyses occur in several monogenie, teratogenic, or aneuploidy syndromes. We describe two sibs with a provisionally unique chondrodysplasia punctata syndrome, who have, in addition to stippled epiphyses, minor facial anomalies, short stature, and ocular colobomata. Inheritance of this condition is likely autosomal recessive. © 1993 Wiley-Liss, Inc.     

Uniparental disomy in congenital disorders: A prospective study

Whole chromosome uniparental disomy (UPD) for several different chromosomes has been described in individuals with phenotypes that encompass a broad range of abnormalities. We prospectively searched for UPD in 25 cytogenetically normal individuals who had one or more of the following features: nonsyndromic multiple congenital anomalies, short stature, mental retardation, or dysmorphic findings. Using highly polymorphic microsatellite repeats, biparental inheritance of at least one locus on every chromosome was found in every individual and uniparental inheritance was not detected at any locus. If UPD does exist in this clinical setting, its frequency is less than 13.7% (95% confidence interval). Our data indicate that additional studies will be required to determine the true incidence of UPD in this population. © 1995 Wiley-Liss, Inc.     

成都汉族群体五个短串联重复序列基因频率及其种属特异性研究

目的对成都汉族群体5个短串联重复序列（short tandem repeat，STR）基因座的等位基因频率及其种属特异性进行研究，探讨其在法医学中的应用价值。方法用PCR扩增、非变性聚丙烯酰胺凝胶电泳、硝酸银染色方法，对100名成都汉族无血缘关系健康个体的5个STR基因座的等位基因频率及其种属特异性进行研究。结果D18S979、D11S2014、D18S548、D1S1667和GATA164F07在成都汉族群体中等位基因个数分别为6、5、5、7、6；基因型个数分别为12、11、13、19、14；基因型分布符合Hardy-Weinberg平衡定律。通过种属特异性分析发现5个STR基因座中，猴在D18S979、D11S2014和D1S1667基因座均检测出扩增产物，但未在人类基因座分型区内；D18S979位点人类分型区内可检测到牛、狗、鳝鱼有扩增产物，猪、鸭、鼠、兔有微弱扩增产物；D18S548位点人类分型区内只检测到牛有微弱扩增产物；D1S1667位点人类分型区内检测到狗、羊、鳝鱼有扩增产物；GATA164F07位点人类分型区内只检测到狗有微弱扩增产物；泥鳅、鸡、豚鼠在5个基因座均未检测到扩增产物。结论5个短串联重复序列中D18S979、D18S548、D1S1667和GATA164F07在成都汉族群体中具有较好的遗传多态性，D11S2014、D18S548和GATA164F07具有较好的种属特异性，在法医学个人识别和亲子鉴定中有应用价值。     

Novel modified Ussing chamber for the study of absorption and secretion in human endoscopic biopsies

The aim of this study was to design and evaluate a modified Ussing chamber, that makes use of constant air suction (modified Ussing air suction chamber, MUAS) for fixation of biopsy specimens. Standard size forceps biopsies were taken from the descending part of duodenum from patients undergoing endoscopy. Short circuit current (SCC) and conductance (G) were measured during basal conditions and after addition of different sugars and secretagogues. Histologic examination was performed to determine the degree of tissue damage after study in the chamber. Basal SCC was 54.7 ± 4.3 μA cm^–2 and G was 58.7 ± 4.7 mS cm^–2 (mean ± SEM, n=48) and steady values of these parameters were observed for at least 2 h. Reproducible and steady responses in SCC were obtained with D ‐glucose (SCC_max=172 ± 22.1 μA cm^–2; EC₅₀=6.9 ± 0.7 mM , n=5) and D ‐galactose (SCC_max=233 ± 55.7 μA cm^–2; EC₅₀=9.2 ± 0.7 mM , n=3), and secretory responses with 5‐hydroxytryptamine, 100 μM (ΔSCC= 16.1 ± 3.8 μA cm^–2, n=10), histamine, 100 μM (ΔSCC=24.0 ± 4.1 μA cm^–2, n=10) and prostaglandin E₂, 1 μM (ΔSCC=30.3 ± 5.4 μA cm^–2, n=6). Experimental biopsy specimens showed intact surface epithelium by histologic examination and did not differ from controls apart from minor indications of edge damage. No difference in basal electrical parameters and D ‐glucose fluxes were found between Helicobacter pylori positive and negative patients. Our data suggests that the MUAS chamber represents a promising alternative approach to measure transport processes in intestinal endoscopic biopsies.     

Electrophysiological correlates of the maintenance of the representation of pitch objects in acoustic short-term memory

We studied the neuronal mechanisms that implement acoustic short-term memory (ASTM) for pitch using event-related potentials (ERP). Experiment 1 isolated an ERP component, the sustained anterior negativity (SAN), that increased in amplitude with increasing memory load in ASTM using stimuli with equal duration at all memory loads. The SAN load effect found in Experiment 1, when pitch had to be remembered to perform the task, was absent in Experiment 2 using the same sounds when memory was not required. In Experiment 3, the memory task was performed without or with concurrent articulatory suppression during the retention interval to prevent rehearsal via an articulatory loop. Load-related effects observed in Experiment 1 were found again, whether participants engaged in concurrent suppression or not. The results suggest that the SAN reflects activity required to maintain pitch objects in an ASTM system that is distinct from articulatory rehearsal.     

旋入式自锁髓内钉治疗胫骨骨折

目的评价采用旋入式自锁髓内钉治疗胫骨骨折的临床效果。方法对38例胫骨骨折采用闭合复位旋入式自锁髓内钉固定并随防6～20个月。结果38例骨折均愈合,平均愈合时间为6～8周。结论旋入式自锁髓内钉对骨折端的血运影响小,固定牢靠,是治疗胫骨骨折的有效方法。     

Short rib-polydactyly syndrome in twins: Beemer-Langer type with poly dactyly

We present premature female twin fetuses with concordant extremely shortened ribs, short limbs, macrocephaly, median cleft upper lip and facial dysmorphism. Based on radiological criteria and the pattern of associated abnormalities, a lethal short rib-polydactyly syndrome (Beemer-Langer type) was diagnosed. The differential diagnosis of this entity is discussed.     

Effects of calcium channel blockade on intestinal fluid secretion: sites of action

Most intestinal secretagogues, including cholera toxin, evoke fluid secretion in part by activating the enteric nervous system (ENS). The enterotoxins that, due to size, cannot pass the intestinal epithelial lining have been proposed to activate the ENS via the release of amines/peptides from the intestinal endocrine cells. It has been shown that calcium channel blockers of the L-type attenuate intestinal fluid secretion. This study was performed on rat jejunal segments to elucidate where calcium channel antagonists interact with the secretory nervous reflex(es) of the ENS. In vivo, net fluid transport, transmural potential difference (PD) and luminal release of serotonin from the enterochromaffin cells were monitored before and after exposing the intestinal mucosa to cholera toxin (20 μg/mL) or the calcium ionophore A23187 (0.5 mm ). In vitro, the effects of transmural electrical field stimulation (EFS) on short circuit current (SCC) was investigated using the Ussing chamber method. Cholera toxin and A23187 evoked a net fluid secretion, an increased PD and an augmented luminal release of 5-HT. These effects were markedly attenuated by giving the calcium channel blocker nifedipine i.v. (5.75 μmol kg^?1 body wt). On the other hand, nifedipine (0.02 mm ) had no significant effect on the increased SCC caused by EFS in vitro. The results obtained in the in vivo experiments suggest that the nifedipine markedly attenuates the initial event in cholera toxin- and A23187-induced secretion, the release of amines and probably also of peptides from the intestinal endocrine cells. The in vitro experiments seem to exclude an effect of the calcium channel blockade on the efferent part of the secretory nervous reflex.     

第一跖底动脉的外科解剖

目前第二趾移植和(?)趾甲皮瓣移植重建手功能的术式,常采用足背动脉与第一跖背动脉为血管蒂。但该血管蒂常有变异,据临床的实践经验,改用第一跖底动脉是一种可行的方法。但分离第一跖底动脉难度较大,故在55例足标本和13例血管铸型标本上观察了第一跖底动脉有关的外科解剖,讨论了利用第一跖底动脉的应用解剖学要点。     

An automated quantitation of short echo time MRS spectra in an open source software environment: AQSES

This paper describes a new quantitation method called AQSES for short echo time magnetic resonance spectra. This method is embedded in a software package available online from www.esat.kuleuven.be/sista/members/biomed/new/ with a graphical user interface, under an open source license, which means that the source code is freely available and easy to adapt to specific needs of the user. The quantitation problem is mathematically formulated as a separable nonlinear least-squares fitting problem, which is numerically solved using a modified variable-projection procedure. A macromolecular baseline is incorporated into the fit via nonparametric modelling, efficiently implemented using penalized splines. Unwanted components such as residual water are removed with a maximum-phase FIR filter. Constraints on the phases, dampings and frequencies of the metabolites can be imposed. AQSES has been tested on simulated MR spectra with several types of disturbance and on short echo time in vivo proton MR spectra. Results show that AQSES is robust, easy to use and very flexible.