Independence of brachymesophalangia-5 from brachymesophalangia-5 with cone mid-5

Analysis of hand radiographs of juvenile siblings of juvenile propositi indicates that brachymesophalangia-5 alone (without cones) is separately inherited without apparent sex bias while brachymesophalangia-5 with the cone-epiphysis of mid-5 and the cone-epiphysis of mid-5 alone are both apparently inherited as a complex and with a marked excess of females over males.     

Prenatal selection and dermatoglyphic patterns

Although human dermatoglyphics have been extensively studied, little is known of the prenatal origins of dermatoglyphic patterns. Digital patterns, i.e., loops, whorls, and arches, were obtained from 81 human abortuses, ranging in age from 11 to 25 weeks post-fertilization. Patterns were discernible with the earliest indications of epidermal ridge development. Findings indicate that pattern frequencies during early prenatal development differ from those of later fetal and postnatal periods. Furthermore, a high frequency of arches is seen associated with spontaneous abortion, suggesting evidence for prenatal selection in human abortuses.     

Prenatal origins of carpal fusions

As shown in 138 embryos and fetuses in the 40–285 mm crownrump length range, carpal and carpal-metacarpal “fusions” arise from incomplete separation of the cartilaginous precursors rather than from failure of initiation, thus accounting for the “fusions” seen in postnatal radiographs and the grooves that are evident enough in adult fusions. Radiographs selected from over 20,000 apparently normal individuals provide postnatal counterparts for the prenatal examples shown in histological sections.     

Brachymesophalangia-5 without cone-epiphysis mid-5 in down's syndrome

Brachymesophalangia-5 proved to be far more frequent in 212 cases of Down's syndrome karyotype (i.e., 21%) than in 14,197 survey volunteers of European ancestry (1.4%). However, none of 28 juvenile Down's syndrome patients with brachymesophalangia-5 exhibited a cone-epiphysis on mid-5, as against the 47% that would be expected. Apparently the manifestation of brachymesophalangia-5 in the 47,G + karyotype is not simply a dosage effect associated with trisomy of chromosome 21.     

Effects of Prenatal Phenobarbital on Benzodiazepine Receptor Development

Phenobarbital (PB) was administered to pregnant mice during days 9-21 of gestation. Forebrain and cerebellar [3H]flunitrazepam ([3H]FLU) binding was assayed in the offspring at birth and at 21 days of age. Prenatal treatment produced a decrease in the number (Bmax) of [3H]FLU receptors in both the forebrain and cerebellum at birth. A small decrease in the [3H]FLU dissociation constant (KD) values in the forebrain was also detected at birth, but no changes were seen in the [3H]FLU KD values in the cerebellum. No changes were observed in forebrain and cerebellar [3H]FLU Bmax or KD values at 21 days of age, indicating that the effects of prenatal exposure to PB on [3H]FLU binding are eliminated during the postnatal development of the forebrain and cerebellum. The receptor affinity for the triazolopyridazine CL 218,872, which distinguishes the type I and type II benzodiazepine (BDZ) receptors, was not altered by prenatal PB treatment. The coupling of the BDZ receptor to the gamma-aminobutyric acid and pentobarbital binding sites was unaffected by exposure to PB in utero.     

Prenatal development of the palatine gland of rats

The present study aimed to elucidate the prenatal development of the rat palatine gland. Parasagittal 5 microm thick serial sections made from Wistar rats at embryonic days (E) 17 to 22 were stained with haematoxylin-eosin (HE), Alcian blue-Kernechtrot or immunohistochemistry for 5-bromo-2'-deoxyuridine (BrdU) as a marker of proliferating cells. Additionally, three-dimensional images of developing glandular parenchyma were reconstructed from serial HE sections with a personal computer. At E 17, several thickenings of the palatal epithelium had appeared which thereafter became the epithelial cords. Branching and lumenization commenced at E 20, and immature acini were observed at E 21. Three-dimensional reconstruction showed that the proximal part of the epithelial cord differentiated into the duct, and the distal part of the epithelial cord differentiated into the acinus. In immunohistochemical staining, there were many BrdU-positive cells in the epithelial cords including thickenings of the palatal epithelium, ducts, and acini. The BrdU labeling index of the cells of the epithelial cord was the highest (statistically significant) of the three in the primitive palatine gland. In conclusion, during the development of the rat palatine gland, epithelial cords with very high proliferative activity arise from the palatal epithelium, and then the proximal part of the epithelial cord differentiates into the duct, and the distal part of the epithelial cord differentiates into the acinus. Proliferation of these glandular parenchyma contributes to the growth of the developing palatine gland.     

Size reduction associated with brachymesophalangia-5: a possible selective advantage

The skin reflectance characteristics of a group of Quechua Indians have been described with an emphasis upon the effects of varying degrees of hybridization, sex and age. This group of Peruvian Indians occupied a reflectance range common to that of all other reported groups of South American Indians. Miscegenation with European Whites had a statistically significant although small influence upon skin color. In general males were consistently darker than females on the three body sites measured. A significant darkening on unexposed body areas occurred in both sexes during early adolescence which may have been caused by the high activity level of the pituitary gland at that stage of the growth cycle.     

产前超声诊断及漏诊胎儿肢体畸形分析

目的：探讨胎儿肢体畸形超声特征及诊断价值。方法：采用连续顺序追踪法对66342 例妊娠12-40 周孕妇行胎儿四肢畸形筛查。将产前超声诊断结果与引产或产后结果进行对比分析。结果：发生肢体畸形271 例,发生率为0.41 %（271/66342）,包括四肢短小5 例,桡骨发育不全1 例,缺肢畸形5 例,足内翻17 例,手掌畸形3 例,指趾畸形222 例及骨骼多发畸形18 例。其中产前诊断胎儿肢体畸形49 例;漏诊222 例,包括：足内翻3 例、指趾畸形218 例、多发骨骼畸形1 例。胎儿肢体畸形的出现率和产前检出率分别为：四肢短小1.84 %（5/271）、100 %（5/5）;桡骨发育不全0.36 %（1/271）、100 %（1/1）;缺肢畸形1.84 %（5/271）、100 %（5/5）;足内翻6.27 %（17/271）、82.35 %（14/17）;手掌畸形1.10 %（3/271）、100 %（3/3）;指趾畸形81.91 %（222/217）、1. 8%（4/222）;多发骨骼畸形6.64 %（18/271）、94.44 %（17/18）。结论：超声对胎儿手掌、脚掌部位以上畸形的检出率较高。指趾畸形出现率最高,但检出率最低。     

Sulfatides in Prenatal Metachromatic Leukodystrophy

In one 21-week-old fetus with prenatally diagnosed metachromatic leukodystrophy, galactolipid contents were determined in the forebrain cortex, cerebellum, brainstem, spinal cord, and kidney and compared to an appropriate control. Spinal cord and kidney showed the highest sulfatide accumulation as a consequence of deficient cerebroside sulfatase activity. No increase, but a measurable amount of sulfatide, was detected in the forebrain. The prenatal neural sulfatides contained a high proportion of the hydroxy fatty acid component. The galactosyl ceramides were not reduced in the early stage of the demyelinating disease.     

Influence of Prenatal Hypoxia on Brain Development: Effects on Body Weight, Brain Weight, DNA, Protein, Acetylcholinesterase, 3-Quinuclidinyl Benzilate Binding, and In Vivo Incorporation of [14C]Lysine into Subcellular Fractions

Abstract: The influence of prenatal hypoxia on subsequent brain development in the young rat was investigated by examining body and brain weight, cerebral cortex wet weight, protein and DNA concentrations, acetylcholinesterase (AChE) activity, 3-quinuclidinyl benzilate (QNB)-binding levels, the relative amounts of protein in various subcellular fractions, and the in vivo incorporation of [¹⁴C]lysine into the protein of homogenate and subcellular fractions. Exposure of pregnant females to a mild hypoxia (9.1% Os, 10 h per day for the 9-11 days preceding birth) resulted in a reduced body weight in the pups at days 1 and 5 after birth; total cortical DNA was reduced but brain weight and protein content were unaffected, leading to a higher protein/DNA ratio in prenatally hypoxic pups. By 10 days of age these differences between prenatally hypoxic and control animals were no longer apparent. There were no differences between prenatally hypoxic and control animals in AChE and QNB binding per milligram cortex protein. The relative amount of synaptic membrane protein from the cerebral cortex was reduced at day 1 in prenatally hypoxic animals and the synaptic membrane fraction showed a higher level of incorporation of [¹⁴C]lysine on days 1, 5, and 10. The developmental profile of [¹⁴C]lysine incorporation showed a peak on day 10 which was higher in prenatally hypoxic rats. By 46 days after birth little difference could be found between prenatally hypoxic and control animals.     

Prenatal diagnosis of an interstitial 12q chromosome deletion

Rearrangements involving long arm of chromosome 12 are rare events. To our knowledge, we present the first case of an interstitial deletion of the long arm of chromosome 12 in a prenatal diagnosis. A review of the literature is included in our report.     

Prenatal growth of long bones in rhesus and squirrel monkeys (Macaca mulatta and Saimiri sciureus)

Fetal long bone growth was studied from 59 radiographs representing 35 macaques and 79 radiographs representing 16 squirrel monkeys. From lateral abdominal radiographs of pregnant females total lengths of long bone shadows were measured to the nearest millimeter with a sliding caliper. A linear regression line was fitted to the data for each species. The high correlation coefficients (min. = 0.92) indicated not only that over 80% of the variance in longbone length was associated with the regression but also that linear regression was an acceptable model. It was determined that the macaque long bones grew more rapidly prenatally than the squirrel monkey long bones. Saimiri long bones grew at a faster rate during the second half of gestation than would be expected considering that the macaque long bones were approximately twice the length of Saimiri long bones at birth and that the duration of their gestation was about the same. Thus squirrel monkeys must achieve a greater percentage of their birth size during the second half of gestation.     

Eukaryotic origins: String analysis of 5S ribosomal RNA sequences from some relevant organisms

Summary Using the PHYLOGEN tree-forming programs, we evaluate the published 5S rRNA sequences in certain of the files in the Berlin DataBank in an attempt to identify the connection between archaebacteria and the eukaryotic protists. These programs are based on methods of string analysis developed by Sankoff and others. Their discriminatory power is derived from their continuous realignment of sequences through repeated assessment of insertions and deletions as well as substitutions. The programs demonstrate that even these small molecules (ca. 120 bases) retain substantial records of evolutionary events that occurred over a billion years ago. The eukaryotes seem to have been derived from ancestors near the common origins of the halobacterial and Methanococcales groups. Identifying what might have been a primordial eukaryote is more difficult because several of the species considered as early derivatives from the common root are isolated species with large genetic differences from each other and from all other extant forms that have been sequenced. The ameboid, flagellated, and ciliated protists seem to have emerged nearly simulataneously from an ancient cluster, but the sarcodinid protozoa have preference as the group of most ancient origin. The euglenozoa and the ciliates are of later derivation. Our ability to tease plausible trees from such small molecules suggests that the mode of analysis rather than the size of the molecule is often a major limitation in the reconstruction of acceptable ancient phylogenies. The residual uncertainty with respect to the conclusions of the 5S analysis may indicate a real limit on the informational content of such small molecules; the period of evolutionary time during which the primary eukaryotic radiation occurred may have been very short relative to the rate of fixation of changes in this highly conserved molecule. Much of even this limitation may be resolved, however, when a sufficiently dense sample of the problematic taxa is examined.     

Cloning and Spatio-Temporal Expression of Porcine CDK5 and CDK5R1(p35) Genes

Cyclin-dependent kinase 5 (CDK5) is a serine/threonine kinase homologue attributed to the mitotic cyclin-dependent kinase family. Both the kinase activity and the biological effects of CDK5 in central nervous system are mainly dependent on association with its regulatory subunit 1 known as CDK5R1 (p35). In the present study, the full-length coding regions of CDK5 and CDK5R1 were cloned from pigs. Radiation hybrid mapping localized porcine CDK5 to chromosome 18q12-13, whereas CDK5R1 was electro-localized to chromosome 12q12. Real-time quantitative RT-PCR (qRT-PCR) showed that CDK5 mRNA is ubiquitously present in all porcine tissues examined, with relatively high levels in cerebral cortex, cerebellum, testicle and lung. We also examined the expression profile of porcine CDK5/CDK5R1 in various tissues at different developmental stages. The results indicated that CDK5 mRNA reaches the highest level in cerebral cortex at two months of age and in cerebellum and liver at 4 months of age, respectively, whereas the peak level of CDK5R1 was observed in both cerebral cortex and cerebellum at two months of age, indicating the pivotal role of CDK5/CDK5R1 during the development of porcine brain.     

孕期应激对子代影响及相关机制的探讨

孕期应激对子代的影响受到多种因素的影响。虽然目前机制尚不清楚,但是大量实验证明其可能与HPA轴活性的改变, NPY能系统,多巴胺系统和5-HT神经元有关。此外,研究影响孕期应激的各种因素之间的互相作用和联系有助于明确孕期应激对子代影响的具体机制。本文从神经内分泌、情绪、学习记忆等多方面综合分析了孕期应激对子代影响的特点,包括应激强度依赖性、时间差异性和个体差异性。     

Analysis of osteochondro-induction using growth and differentiation factor-5 in rat muscle

Growth and differentiation factor-5 (GDF-5) belongs to the TGF-beta super family, and reportedly plays an important role in cartilage development and differentiation. In this study, we implanted GDF-5 in rat leg muscle, and evaluated its in vivo osteochondro-inducing activity by histological and X-ray examinations. GDF-5 (0, 100, 300, and 500 microg) and the carrier type I collagen were mixed, and the mixture was implanted into rat leg muscle. Three weeks later, the site of implantation was examined by soft X-ray, and examined histologically. The GDF-5 0 and 100 microg groups showed no osteochondro-induction. The GDF-5 300 microg group showed aggregates of cartilage and some bone tissue in the carrier. The GDF-5 500 microg group revealed bone and no cartilage. This is the first report of the dose-dependent effect of GDF-5 inducing osteochondrogenesis or osteogenesis.     

Phylogenetic origins of the plant mitochondrion based on a comparative analysis of 5S ribosomal RNA sequences

Summary The complete nucleotide sequences of 5S ribosomal RNAs fromRhodocyclus gelatinosa, Rhodobacter sphaeroides, andPseudomonas cepacia were determined. Comparisons of these 5S RNA sequences show that rather than being phylogenetically related to one another, the two photosynthetic bacterial 5S RNAs share more sequence and signature homology with the RNAs of two nonphotosynthetic strains.Rhodobacter sphaeroides is specifically related toParacoccus denitrificans andRc. gelatinosa is related toPs. cepacia.These results support earlier 16S ribosomal RNA studies and add two important groups to the 5S RNA data base. Unique 5S RNA structural features previously found inP. denitrificans are present also in the 5S RNA ofRb. sphaeroides; these provide the basis for subdivisional signatures. The immediate consequence of our obtaining these new sequences is that we are able to clarify the phylogenetic origins of the plant mitochondrion. In particular, we find a close phylogenetic relationship between the plant mitochondria and members of the alpha subdivision of the purple photosynthetic bacteria, namely,Rb. sphaeroides, P. denitrificans, andRhodospirillum rubrum.     

Ameliorating replicative senescence of human bone marrow stromal cells by PSMB5 overexpression

Multipotent human bone marrow stromal cells (hBMSCs) potentially serve as a source for cell-based therapy in regenerative medicine. However, in vitro expansion was inescapably accompanied with cell senescence, characterized by inhibited proliferation and compromised pluripotency. We have previously demonstrated that this aging process is closely associated with reduced 20S proteasomal activity, with down-regulation of rate-limiting catalytic β-subunits particularly evident. In the present study, we confirmed that proteasomal activity directly contributes to senescence of hBMSCs, which could be reversed by overexpression of the β5-subunit (PSMB5). Knocking down PSMB5 led to decreased proteasomal activity concurrent with reduced cell proliferation in early-stage hBMSCs, which is similar to the senescent phenotype observed in late-stage cells. In contrast, overexpressing PSMB5 in late-stage cells efficiently restored the normal activity of 20S proteasomes and promoted cell growth, possibly via upregulating the Cyclin D1/CDK4 complex. Additionally, PSMB5 could enhance cell resistance to oxidative stress, as evidenced by the increased cell survival upon exposing senescent hBMSCs to hydrogen peroxide. Furthermore, PSMB5 overexpression retained the pluripotency of late-stage hBMSCs by facilitating their neural differentiation both in vitro and in vivo. Collectively, our work reveals a critical role of PSMB5 in 20S proteasome-mediated protection against replicative senescence, pointing to a possible strategy for maintaining the integrity of culture-expanded hBMSCs by manipulating the expression of PSMB5.