Skeletal age determination of the hand: a comparison of methods.

Until final completion of maturation processes at the age of approximately 18 years, determination of the skeletal age of the hand plays a central role in forensic age diagnostics in living persons in criminal proceedings. In this process, assessment of hand radiographs relies primarily on the stage of development of the epiphyseal nuclei, the increase in size of the individual bones and of the hand skeleton as a whole, changes in the shape of the various skeletal elements and ossification of the epiphyseal plates. To achieve this, there are a variety of methodological approaches based on two different fundamental principles. The methods proposed by Greulich and Pyle, Thiemann et al. and Gilsanz and Ratib rank among the so-called atlas techniques, whilst the methods proposed by Tanner et al. and Roche et al. are classified as so-called bone-specific techniques. In order to be applicable in the field of criminal procedure, the methods of estimating the skeletal age of the hand developed with clinical aspects in mind must satisfy the demands of a high degree of estimate accuracy and good reproducibility of the estimated results. In the course of the present study, a study population of 92 persons was used to compare the above-mentioned atlas and bone-specific techniques for determining hand skeleton age in view of these qualitative criteria. Estimate accuracy was studied using Pearson's correlation coefficients, and weighted kappa coefficients were determined for studying the intra-and interobserver agreement of an estimate result. In the inter-method comparison, a basically good agreement was shown between the skeletal ages and the chronological age of the test persons on the one hand and the skeletal age diagnoses of one or of two examiners on the other. No general advantage of the methodological approach of the bone-specific technique was discernible in the course of comparison; in the female gender, particularly, the RUS2 and RUS3 score of the method of Tanner et al. proved unfavourable. For age estimation practice in criminal proceedings, the atlas methods of Greulich and Pyle and Thiemann et al. are particularly recommendable.

Differential expression of alternative Acyl-CoA binding protein (ACBP) transcripts in an inducible human preadipocyte cell line.

Understanding the function of fat metabolism during differentiation of human preadipocytes to fully developed fat tissue has been the aim of various studies in the past decades. Due to the lack of suitable human cell culture lines, experimental research predominantly focused on rodent models and nonhuman cell culture systems. Here, we demonstrate that a human preadipocyte cell line SGBS is well suited to examine differential expression of the Acyl-CoA binding protein (ACBP) during adipogenesis. The Acbp gene expresses various alternative high- and low-abundant transcript variants encoding ACBP protein isoforms, which play a central role in fat metabolism. Whereas the low-abundant transcript Acbp-1G is downregulated during SGBS adipogenesis, the high-abundant and well established transcripts Acbp-1A (1) and -1B are moderately (2-4-fold) upregulated. In contrast, the alternative high-abundant transcript Acbp-1C is strongly (29-fold) upregulated at mRNA and protein level indicating that particularly ACBP-1C functions in lipogenic processes during fat cell differentiation in humans.

Transcriptom-based identification of a putative role for the human Acyl-CoA-Binding-Protein (ACBP) in vesicular trafficking.

In the present study we performed a transcriptom-based analysis of human Acyl-CoA-Binding-Protein (ACBP) target genes. By applying Genomatix BiblioSphere expert level based co-citation filter 4 (GFG level 4) ras homolog gene family member B (RhoB) and its interacting rhophilin-2 (Rhpn2) were refined from 64 ACBP sensitive genes. TaqMan-based qRT-PCR confirmed the accuracy of the array-derived expression data. Based on Gene Ontology (GO) classification RhoB and Rhnp2 were allocated to endosomal transport and signaling processes. Thus, we suggest RhoB and Rhnp2 as ACBP target genes contributing to the proposed and evolutionary conserved function of ACBP in vesicular transport processes.

BAC-derived diagnostic markers for sex determination in asparagus.

A HindIII BAC (bacterial artificial chromosome) library of asparagus ( Asparagus officinalis L.) was established from a single male plant homozygous for the male flowering gene ( MM). The library represents approximately 5.5 haploid genome equivalents with an average insert size of 82 kb. A subset of the library (2.6 haploid genome equivalents) was arranged into DNA pools. Using nine sex-linked amplified fragment length polymorphism (AFLP) and two sequence-tagged site (STS) markers, 13 different BAC clones were identified from this part of the library. The BACs were arranged into a first-generation physical map around the sex locus. Four PCR-derived markers were developed from the BAC ends, one of which could be scored in a co-dominant way. Using a mapping population of 802 plants we mapped the BAC-derived markers to the same position close to the M gene as the corresponding AFLP and STS markers. The markers are useful for further chromosome walking studies and as diagnostic markers for selecting male plants homozygous for the M gene.

Pyk10, a seedling and root specific gene and promoter from Arabidopsis thaliana.

Pyk10 is a root and hypocotyl specific myrosinase from Arabidopsis thaliana. Northern analysis revealed the root specific expression of pyk10. In order to study the pyk10 promoter and the genomic structure of the gene, a genomic clone was isolated and sequenced. The clone contained the complete pyk10 gene and a promoter region of 3569 bp. The gene spans 2963 bp and consists of 12 exons and 11 introns, a structure that reflects the common gene organization of myrosinases. Within the promoter sequence, different development specific, organ specific, elicitor and plant hormone responsive regulatory elements could be identified, which also occur in other promoters. To determine the pattern of expression, four different 5'-promoter deletion fragments were linked to a ss-glucuronidase (gus) reporter gene and transformed into A. thaliana. The results demonstrated that the pyk10 promoter mediates a developmental gene activity with a strong emphasis in the root. Cis-acting sequences regulating root specific expression were identified to reside in the two promoter fragments B and C.

Oto-palato-digital syndrome with features of type I and II in brothers.

We report on the oto-palato-digital syndrome (OPD) in two sons of a mother showing minimal signs of the condition. The index patient, a 10-year-old boy, presents typical symptoms of OPD type I together with bowing of the long bones and abnormalities of the thorax and spinal column. During the following pregnancy ultrasonographic studies of the male fetus in the 16th week of gestation revealed severe micrognathia, short and wide thumbs, and big toes, and bowed tibiae. After termination of the pregnancy further features were observed which fulfilled the diagnostic criteria of both OPD I and II. A possible explanation of these findings is that OPD type I and II and the features in the described cases are part of a continuous clinical spectrum of the same underlying mutation, or that several different alleles are involved in the OPD type I, type II, and mixed phenotypes.

[Osteochondrodysplasias. Prenatal diagnosis and pathological-anatomic findings]. / Osteochondrodysplasien. Pränatale Diagnostik und pathologisch-anatomische Befunde.

Prenatal sonographic investigations were applied for malformations to 7,194 foetuses, between October 1985 and April 1992, with 28 cases of osteochondrodysplasia (OCD) and one case of dysostosis being dissected. Included were 20 cases of lethal osteochondrodysplasia, among them two cases of lethal hypophosphatasia, five cases of thanatophoric dysplasia, one case each of Type II shortrib (polydactyly) syndrome (VERMA-NAUMOFF) and metatropic dysplasia, three cases of campomelic dysplasia and eight cases of Type II A imperfect osteogenesis. Also observed were eight cases of nonlethal OCD, among them three cases of diastrophic dysplasia and five of achondroplasia. Dysostosis was recorded from one case and was diagnosed as Type V acrocephalosyndactyly (Pfeiffer). Identification of a specific OCD proved to be difficult in the second or third trimenon. Hence, the form of OCD was prenatally diagnosed only in ten of all cases investigated. Tentative diagnosis was first established from the postmortem radiograph. Additional malformations and other abnormalities then were detected by complementary pathologico-anatomic processing of findings. The final diagnosis was derived from radiological, pathologico-anatomic and histological findings. Diagnosis of this constitutional osteopathy is quite difficult and calls for interdisciplinary cooperation between gynaecologists, neonatologists, paediatric surgeons, radiologists, geneticists and pathologists. More effective counselling of affected families is the major purpose of all the efforts involved.

[Diagnostic evaluation of skeletal scintigraphy in comparison to roentgen studies in histiocytosis X in childhood. Case report]. / Diagnostische Wertigkeit der Skelettszintigraphie im Vergleich zur Röntgenuntersuchung bei der Histiozytose X im Kindesalter. Erfahrungsbericht.

We have compared whole body skeletal scintigraphy with X-ray examination in 15 children suffering from histiocytosis X, 14 of whom also showed involvement of the skeleton. In 9 of 20 cases, relapses, included, involvement of the skeleton was found both in scintigraphy and X-ray examination. In 7 cases only X-ray examinations have revealed lessons, which could not be proved by scintigraphy. Vice versa, in 4 cases scintigraphy was positive alone. These results confirm the necessity to use both methods for an exact documentation of the extent of the disease before undertaking any therapy. Dispensing with one of the two methods may cause incorrect therapeutic decisions and increase the risk of relapses and late complications.

[Infant hypotonia, obesity, hypogenitalism and oligophrenia--new viewpoints on the etiology and symptoms of Prader-Willi syndrome]. / Säuglingshypotonie, Adipositas, Hypogenitalismus und Oligophrenie--neue Gesichtspunkte zur Atiologie und Symptomatik des Prader-Willi-Syndroms.

We present four cases of Prader-Willi syndrome. Two of them have an abnormality of a chromosome 15, the other both show different chromosomal abnormalities. Translocations or deletions were found recently in the bands 15q11/12 in about 60% of the cases of Prader-Willi syndrome. The consequences for diagnosis, symptomatology and genetic counselling of the syndrome are discussed.

The antenatal use of ambroxol (bromhexine metabolite VIII) to prevent hyaline membrane disease: a controlled double-blind study.

A prospective double-blind clinical trial was carried out to determine whether ambroxol (bromhexine metabolite VIII) treatment (1000 mg/day for a period of 5 days) reduces the risk of hyaline membrane disease (HMD) in potentially premature infants. Amniocentesis was performed before the first and 24 h after the last application of ambroxol or placebo to assess the development of the total phospholipid phosphorus content, the L/S ratio, the P/S ratio, and the properties of the surface tension of the amniotic fluid after ambroxol or placebo. There were 246 infants born to 224 mothers. Of the 116 infants with less than or equal to 36 completed weeks' gestation, 56 were in the ambroxol and 60 in the placebo group. No differences between groups occurred in risk factors for HMD (diabetes, asphyxia, male sex, cesarean section). Statistically significant differences in favor of the infants in the ambroxol group were found in the HMD incidence: 23.2% in the ambroxol group compared with 41.7% in the placebo group (p less than 0.05). There was no reduction of the HMD incidence in the less than or equal to 32-week gestational age category in the ambroxol group compared with the placebo group inspite of the fact that all the examined parameters for determining lung maturity reflected a stimulatory effect of ambroxol compared with the results of the placebo group, particularly before the 33rd week of gestation. Prolonged rupture of the membranes played no protective role against HMD.