Defekt von Femur und Fibula mit Amelie,Peromelie oder ulnaren Strahldefekten der Arme Ein Syndrom

Six cases are described in which defects of the femora are associated with deformities of the upper limbs. From the available literature all cases (55) were selected in which femoral defects were associated with upper limb deformities. It became apparent that most if not all of these cases belong to a well defined syndrome. Arm deformities associated with femoral defect do not usually include the most common types, but specific rare types, namely amelia, peromelia ending at the level of the elbow, brachioradial synostosis and ulnar defects. In the syndrome in question sometimes either arm shows a different type of these deformities, which is further evidence that all cases may be considered to represent one category. In the majority of cases there is also a defect of the fibula and the fibular rays. The etiology is unknown. Familial occurrence has not been observed. Parental age does not appear to be a factor. In no case was there a thalidomide history. A history of radiation exposure during pregnancy was present in two previously published cases. Other limb deformities associated with radiation exposure in utero are quoted from the literature. Some of them are similar, but not exactly identical to the syndrome in question.Thalidomide deformities, in which the radial and tibial rays are preferentially affected, are clearly distinct. Similar defects of the femorae and fibulae but not of the arms are occasionally seen in children born to diabetic mothers.     

Intracranial tumors simulating vascular lesions of the brain; a preliminary report

Occasionally in the presence of atypical symptoms it is difficult to distinguish between cerebrovascular disorders and intracranial tumors. Intracranial tumor should be suspected in cases of atypical symptoms of vascular lesion or even in typical cases in which the patient does not show expected improvement. In a group of eight cases the problem of differential diagnosis was not confined to those in which the patients were elderly. Furthermore, papilledema and elevated spinal fluid pressure were absent in all these cases. The absence of these signs, therefore, does not eliminate the possibility of an intracranial tumor.The electroencephalogram is an important adjunct in differential diagnosis. In this series, electroencephalograms lateralized the lesion correctly in every case and localized it in one. The importance of repeated electroencephalographic examination if wave patterns are normal in the first tracing was clearly illustrated in three instances.Ventriculography, which in six cases finally established the diagnosis, and the site of the lesion, should not be postponed unnecessarily.     

A simpler, more general method of finding the optimal foraging strategy for Bayesian birds

Oaten's (1977) stochastic model for optimal foraging in patches has been solved for a number of particular cases. A few cases, such as Poisson prey distribution and either systematic or random search, are easy to solve. In other cases, such as binomial prey distribution and random search, the form of the optimal strategy may be found using a theorem of McNamara, although more work is required to find which particular rule of the proper form is actually best. More generally (but not completely generally), optimal strategies may be found using dynamic programming. This requires that the number of prey found up to a particular time is a sufficient statistic for the number of prey remaining in a patch. This requirement cannot be dispensed with, but other simplifying assumptions that were used in the past are not necessary. In particular, it is not necessary, even for the sake of convenience, to assume that prey distribution has a form convenient for Bayesian analysis, such as a beta mixture of binomials or a gamma mixture of Poissons. Any prey distribution may be used if whatever prey are in a patch are located at random, and if search either is systematic for discrete time or for continuous time, or is random for continuous time. In earlier work, some pains had to be taken to find the rate of finding prey achieved by a given candidate strategy, but this is not necessary if expected gains and expected times are calculated routinely for each potential stopping point during dynamic programming. A new, simple method of finding optimal strategies is illustrated for discrete time and systematic search. This paper is based on a talk given at the Fifth Hans Kristiansson Symposium held in Lund, Sweden in August, 2003. The subject of the symposium was Bayesian foraging.     

Pitfalls in the statistical analysis of microbiome amplicon sequencing data

Microbiome data are characterized by several aspects that make them challenging to analyse statistically: they are compositional, high dimensional and rich in zeros. A large array of statistical methods exist to analyse these data. Some are borrowed from other fields, such as ecology or RNA-sequencing, while others are custom-made for microbiome data. The large range of available methods, and which is continuously expanding, means that researchers have to invest considerable effort in choosing what method(s) to apply. In this paper we list 14 statistical methods or approaches that we think should be generally avoided. In several cases this is because we believe the assumptions behind the method are unlikely to be met for microbiome data. In other cases we see methods that are used in ways they are not intended to be used. We believe researchers would be helped by more critical evaluations of existing methods, as not all methods in use are suitable or have been sufficiently reviewed. We hope this paper contributes to a critical discussion on what methods are appropriate to use in the analysis of microbiome data.     

Orientation of crustacean burrows

Most arthropod burrows show a marked preferred orientation: they are not random in alignment. A recent burrow made by Jaxea nocturna Nardo is compared to three fossil burrows from the Austrian Tertiary. In each system very steep and very flat burrow sections can be distinguished. In three cases, including the Recent one, flat burrow sections dominate in length. In all burrow sections the distribution of trend angles is also not uniform but indicate preferred directions. In those cases where two mean vectors exist their position is nearly orthogonal, in systems with three mean vectors they form angles of nearly 60°. A relationship between these preferred directions to coastline orientation and current direction is likely.     

Cerebellar Ectopia Presenting in Adult Life

Three cases of cerebellar ectopia first producing symptoms in adult life are reported. This potentially remediable anomaly may not be suspected in adults, in whom associated congenital bony abnormalities of the skull and cervical spine are often absent. In these cases diagnosis depends on radiological contrast studies; in particular it is important to examine the cervical canal in the prone and supine positions.     

Peritoneal Dialysis in Acute and Chronic Renal Failure

Clinical experience with peritoneal dialysis in eight cases of acute and four cases of chronic renal failure is presented. Seven of the acute cases survived but in some of these hemodialysis was also employed. The relatively simple technique of peritoneal dialysis was found to be effective, although slower than hemodialysis. In three of the cases it was selected in preference to hemodialysis. Its main advantages are that it does not require elaborate arrangements, or the use of blood or anticoagulants. The authors conclude that when the peritoneum is intact the method can be employed whenever the use of a temporary kidney substitute is indicated.     

Some factors affecting the action of restriction endonucleases on human metaphase chromosomes

We have investigated whether restriction endonucleases produce bands on human chromosomes by extracting DNA, using staining methods which are stoichiometric for DNA. Restriction enzymes that produce C-band patterns appear to remove DNA extensively from chromosome arms. In general, however, those restriction enzymes that produce G-bands do not extract DNA from chromosomes, and their effects are believed to be due to conformational change in the chromosomal DNA; in these cases, the chromosomal regions affected appear to be determined by the chromosome structure and not by the specificity of the enzyme. DNA loss from chromosomes due to digestion by restriction enzymes may in some cases be uniform, although a G-banding pattern is visible after Giemsa staining.     

Organ Sales: Exploitative at Any Price?

In many cases, claims that a transaction is exploitative will focus on the details of the transaction, such as the price paid or conditions. For example, in a claim that a worker is exploited, the grounds for the claim are usually that the pay is not sufficient or the working conditions too dangerous. In some cases, however, the claim that a transaction is exploitative is not seen to rely on these finer details. Many, for example, claim that organ sales would be exploitative, in a way that doesn't seem to depend on the details. This article considers, but ultimately rejects, a number of arguments which could be used to defend this sort of claim.     

The species concept in parasites and other pathogens: a pragmatic approach?

Although the problem of speciation is a puzzle for evolutionists, species are not mere fantasies. In many cases, it is possible to identify evolutionary entities that deserve to be attributed the name 'species' and that are relevant to medical researchers and decision makers. All approaches to the problem of speciation in pathogens are specific cases of four main concepts (or combinations thereof): biological, phylogenetic, phenetic and phenotypic. Modern genetic concepts and technologies help to juggle these concepts.     

Incidence and significance of supernumerary marker chromosomes in prenatal diagnosis

The finding of a supernumerary marker chromosome in amniotic fluid cells poses a considerable counseling dilemma. In 6,500 cases referred to our laboratory over a 4 1/2-year period, eight such cases were identified (0.123% of all cases). In five of the eight cases, a diagnosis of true mosaicism between cells with 46 and 47 chromosomes was made. In the remaining three cases, the marker was present in 100% of the cells. In three cases, the marker was determined to be familial in nature with mosaicism present in the parents of two of these cases. Detailed cytogenetic findings for each case are provided. In no cases were abnormalities noted in either abortuses or live borns. The high incidence of mosaicism in these cases seems to indicate a propensity for supernumerary chromosomes to be lost. Familial markers may not be passed on for many generations, and they may arise as new mutations relatively frequently. There is an urgent need for more information on the risks associated with the prenatal detection of supernumerary chromosomes. We recommend that in considering the implications of the prenatal detection of marker chromosomes cases be considered in at least four distinct groups: type 1--familial and nonmosaic; type 2--familial with mosaicism in either the amniotic fluid cells, a parent, or both; type 3--de novo markers and nonmosaic; and type 4--de novo with mosaicism present in the amniotic fluid cells.     

ANNULAR PANCREAS—Peptic Ulcer as Late Postoperative Sequela

Two cases of annular pancrease with late postoperative sequelae of duodenal and gastric ulcer are presented. In each case operation was limited to the annulus. Because symptoms are not permanently relieved by this procedure and subsequent peptic ulceration is not prevented, it is suggested that partial gastric resection be performed and decompression of the duodenal stump be effected by resection of the pancreatic ring.     

植物分类学在化石珊瑚藻(珊瑚藻目,红藻门)中的应用

最近有人认为将化石藻类的分类归入现生藻类分类单元有利于珊瑚藻作为古环境的标志,便于理解该类群的演化。然而,这样分类可能很难,因为并不是所有现生藻类分类特征都能在化石种中保存下来。Sporolithacea科的钙化部分(独立或者聚集的孢子囊群)的出现,可以把它们与这个类群的另一个现生科Corallinaceae区别开,这个科在生殖窠中产生孢子囊。节片的有无,丝间细胞的联系类型,生殖窠中孢子囊释放的数目都是用来划分Coral1inaceae科的亚科的标准,在化石样品中也可以用合适的条件进行观察。在大多数情况下,对现生珊瑚藻类属的划分特征可以在化石藻类中鉴别出来,但在几种现生珊瑚藻没有钙化的生殖结构或发育特征。因此,它们生殖结构无法与相应的化石藻类进行对比,也不能进行化石藻类的分类。近年来的趋势认为生殖结构和发育特征是对现生珊瑚藻进行分类的优先鉴定标准,然而,某些特征的稳定性在属的划分上仍然存在争论。在许多情况下,现生藻类的分类标准特征都不能在化石中保存,对古生物化石的分类标准的最佳选择是在化石藻类中选择辅助的,并且可以识别的其它鉴定特征,或者应用非正式的比现生藻类代表定义更宽的属名。     

May random processes explain mating success in leks?

The object of this paper is to verify whether in specific cases the variance of mating success among lekking males may be due exclusively to a random mechanism, as opposed to the adaptive mechanisms of mate choice which are usually postulated in the literature in the framework of sexual selection theory. In fact, some studies attempted to compare observed distributions of male mating success with a Poisson ‘null’ distribution based on the conjecture of random mating; the conjecture is usually rejected. In this paper we construct a plausible model (the ‘null’ hypothesis) for a strictly random non-adaptive pattern of social behaviour of lekking males and females and we perform several simulations for reasonable choices of parameter values. It should be observed that some of the simulations based on our random model lead to a distribution of male mating success which is Poisson-like. However, contrary to predictions, in several simulations a random process of mate choice lead to non-Poissonian distributions. Accordingly, the fact that, when performing a statistical test on several sets of field data, we find both cases which are in agreement with Poisson distribution, or a normal one, and cases which are not, does not allow us to reject the assumption of random male reproductive success. Thus it is legitimate to conjecture that in many cases the inter-individual variability of male mating success might indeed be determined by random processes. If this conjecture were to be confirmed by further studies, the actual significance of sexual selection in the evolution of lekking species should be reassessed, and a novel approach in the analysis of field data would be called for.     

A comparison of foraging strategies in a patchy environment.

In this paper we compare foraging strategies that might be used by predators seeking prey in a patchy environment. The strategies differ in the extent to which predators aggregate in response to prey density. The approach to the comparison is suggested by the idea of evolutionarily stable strategies. A strategy is said to be evolutionarily stable if it cannot be invaded by another strategy. Thus we examine scenarios where a small number of individuals using one strategy are introduced into a situation where a large number of individuals using the other strategy are already present. However, our foraging models do not explicitly incorporate predator population dynamics, so we use net energy uptake as a surrogate for reproductive fitness. In cases where all of the patches visited by predators sustain prey populations, we find that for any pair of strategies one of them will have a higher net energy uptake than the other whether it is the resident or the introduced strain. However, which one is higher will typically depend on the total predator population, which is determined by the resident strain. If the predators leave prey densities high, the more aggregative strain will have the advantage. If the predators reduce prey densities to low levels the less aggregative strain will have the advantage. In cases where one strain of predators aggregates in response to prey density and the other does not, then there might be patches which do not contain prey but do contain (non-aggregating) predators. In those cases, there is the possibility that whichever strategy is used by the introduced strain will yield a higher energy uptake than that used by the resident strain. This suggests that if some patches are empty of prey then aggregative and non-aggregative strategies may be able to coexist.     

CALIFORNIA MEDICAL ASSOCIATION

Two cases of annular pancrease with late postoperative sequelae of duodenal and gastric ulcer are presented. In each case operation was limited to the annulus. Because symptoms are not permanently relieved by this procedure and subsequent peptic ulceration is not prevented, it is suggested that partial gastric resection be performed and decompression of the duodenal stump be effected by resection of the pancreatic ring.     

Enuresis

Enuresis is a symptom rather than a disease. It may occasionally be the result of an organic condition but most cases are functional in origin. The organic cases are rather simply classified, the diagnosis should not be difficult, and the treatment is fairly well standardized. The functional cases, on the other hand, are of a variety of types which tax the physician and the family in understanding and treating the problem.The author presents some of the known facts about enuresis and discusses the accepted forms of therapy. An important requirement is a better understanding and study of the child from the medical, psychological and environmental viewpoint. In this way a more rational therapy may be advised.     

Anomalies of the forebrain with radial limb defects: Garcia‐Lurie‐Steinfeld syndrome?

BACKGROUND: Severe anomalies of the forebrain together with radial limb anomalies have been reported in Steinfeld syndrome, XK aprosencephaly, and partial monosomy 13q. Steinfeld syndrome is an extremely variable autosomal dominant condition that, in severe cases, is characterized by holoprosencephaly, radial limb defects, and renal and/or cardiac defects. In mild cases there may be only thumb hypoplasia, ocular coloboma, or oral clefts. XK aprosencephaly, also called Garcia-Lurie syndrome (GLS), is a usually sporadic disorder with radial limb defects and aprosencephaly/atelencephaly. Based on two atypical sibships, autosomal recessive inheritance has been suggested. Two patients with variations of monosomy 13q have been described with atelencephaly but, generally, Steinfeld and XK aprosencephaly patients are chromosomally normal. Holoprosencephaly in 13q deletion patients appears to be due to ZIC2 mutations, but ZIC2 has not been previously tested in Steinfeld syndrome or GLS patients. CASES: We report three sporadic cases with clinical features intermediate between Steinfeld and GLS, including severe forebrain malformations and radial limb defects. All had normal karyotypes, and mutations in ZIC2 were absent in the two cases tested. CONCLUSIONS: In our cases and in the literature there is significant clinical overlap between Steinfeld syndrome and GLS. We propose these conditions may not be nosologically or etiologically distinct. The spectrum of severe forebrain anomalies in these conditions is broader than previously thought and may include some neural tube defects. Mild cases are difficult to identify and the full range of expression remains unknown. Autosomal dominant inheritance with incomplete penetrance and frequent new mutations is postulated. Thorough clinical evaluation is recommended for children with severe forebrain and radial limb defects.     

ENURESIS

Enuresis is a symptom rather than a disease. It may occasionally be the result of an organic condition but most cases are functional in origin. The organic cases are rather simply classified, the diagnosis should not be difficult, and the treatment is fairly well standardized. The functional cases, on the other hand, are of a variety of types which tax the physician and the family in understanding and treating the problem.The author presents some of the known facts about enuresis and discusses the accepted forms of therapy. An important requirement is a better understanding and study of the child from the medical, psychological and environmental viewpoint. In this way a more rational therapy may be advised.     

Somatic mosaicism in cases with small supernumerary marker chromosomes

Somatic mosaicism is something that is observed in everyday lives of cytogeneticists. Chromosome instability is one of the leading causes of large-scale genome variation analyzable since the correct human chromosome number was established in 1956. Somatic mosaicism is also a well-known fact to be present in cases with small supernumerary marker chromosomes (sSMC), i.e. karyotypes of 47,+mar/46. In this study, the data available in the literature were collected concerning the frequency mosaicism in different subgroups of patients with sSMC. Of 3124 cases with sSMC 1626 (52%) present with somatic mosaicism. Some groups like patients with Emanuel-, cat-eye- or i(18p)- syndrome only tend rarely to develop mosaicism, while in Pallister-Killian syndrome every patient is mosaic. In general, acrocentric and non-acrocentric derived sSMCs are differently susceptible to mosaicism; non-acrocentric derived ones are hereby the less stable ones. Even though, in the overwhelming majority of the cases, somatic mosaicism does not have any detectable clinical effects, there are rare cases with altered clinical outcomes due to mosaicism. This is extremely important for prenatal genetic counseling. Overall, as mosaicism is something to be considered in at least every second sSMC case, array-CGH studies cannot be offered as a screening test to reliably detect this kind of chromosomal aberration, as low level mosaic cases and cryptic mosaics are missed by that.