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The proceeding developments in next generation sequencing (NGS) technologies enable increasing discrimination power for short tandem repeat (STR) analyses and provide new possibilities for human identification. Therefore, the growing relevance and demand in forensic casework display the need for reliable validation studies and experiences with challenging DNA samples. The presented validation of the MiSeq FGx system and the ForenSeq™ DNA Signature Prep Kit (1) investigated sensitivity, repeatability, reproducibility, concordance, pooling variations, DNA extraction method variances, DNA mixtures, degraded, and casework samples and (2) optimized the sequencing workflow for challenging samples from human corpses by testing additional PCR purification, pooling adjustments, and adapter volume reductions. Overall results indicate the system's reliability in concordance to traditional capillary electrophoresis (CE)-based genotyping and reproducibility of sequencing data. Genotyping success rates of 100% were obtained down to 62.5 pg DNA input concentrations. Autosomal STR (aSTR) profiles of artificially degraded samples revealed significantly lower numbers of locus and allelic dropouts than CE. However, it was observed that the system still exposed drawbacks when sequencing highly degraded and inhibited samples from human remains. Due to the lack of studies evaluating the sequencing success of samples from decomposed or skeletonised corpses, the presented optimisation studies provide valuable recommendations such as an additional PCR purification, an increase in library pooling volumes, and a reduction of adapter volumes for samples with concentrations ≥31.2 pg. Thus, this research highlights the importance of all-encompassing validation studies for implementing novel technologies in forensic casework and presents recommendations for challenging samples.

Myocardial deformation can be assessed from routine cardiac magnetic resonance (MR) images using two-dimensional feature tracking (2D-FT). Although reference values are essential for implementation of strain imaging in clinical practice, data for the healthy pediatric age group are limited.To provide pediatric MR reference values for strain and strain rate for all four heart chambers.Retrospective.One hundred and fifty-seven healthy children from two institutions (102 male, age 4.7-18 years).1.5 T; balanced steady-state free precession sequence.Left ventricular (LV) global and regional longitudinal, circumferential, and radial strain and strain rate as well as right ventricular (RV) and atrial global and regional longitudinal strain and strain rate were measured in two-, three-, and four-chamber views and the short axis stack. The relationships between strain parameters and age, height, weight, and gender were investigated. Age- and height-specific centile curves and tables were created for LV strain and strain rate. For all other global strain parameters, the mean was calculated as a reference.Lambda-mu-sigma (LMS)-method of Cole and Green, univariable, and multivariable linear regression models. A P value0.05 was considered to be statistically significant.Age, height and weight had a significant influence on LV global strain values. These parameters also showed an influence on RV strain but only in boys (girls P = 0.12) and none of the variables had a significant influence on atrial strain (P = 0.19-0.49). Gender differences were only found for RV strain values.Pediatric potential reference values for myocardial deformation parameters of both ventricles and atria are provided. The values may serve as a reference in future studies and clinical practice.3 TECHNICAL EFFICACY: Stage 5.

European journal of pain : EJP 25(3), 595-611 (2021). doi:10.1002/ejp.1696, Published by Wiley-Blackwell, Malden, Mass. [u.a.]

Seckel syndrome is a heterogeneous, autosomal recessive disorder marked by prenatal proportionate short stature, severe microcephaly, intellectual disability, and characteristic facial features. Here, we describe the novel homozygous splice-site mutations c.383+1G>C and c.4005-9A>G in CDK5RAP2 in two consanguineous families with Seckel syndrome. CDK5RAP2 (CEP215) encodes a centrosomal protein which is known to be essential for centrosomal cohesion and proper spindle formation and has been shown to be causally involved in autosomal recessive primary microcephaly. We establish CDK5RAP2 as a disease-causing gene for Seckel syndrome and show that loss of functional CDK5RAP2 leads to severe defects in mitosis and spindle organization, resulting in cells with abnormal nuclei and centrosomal pattern, which underlines the important role of centrosomal and mitotic proteins in the pathogenesis of the disease. Additionally, we present an intriguing case of possible digenic inheritance in Seckel syndrome: A severely affected child of nonconsanguineous German parents was found to carry heterozygous mutations in CDK5RAP2 and CEP152. This finding points toward a potential additive genetic effect of mutations in CDK5RAP2 and CEP152., German Federal Ministry of Education and Research (BMBF); Scientific and Technological Research Council of Turkey (TÜBİTAK)

Boswellic acids (BAs) have been shown to possess antiviral activity. Using bioinformatic methods, it was tested whether or not acetyl‐11‐keto‐β‐boswellic acid (AKBA), 11‐keto‐β‐boswellic acid (KBA), β‐boswellic acid (BBA), and the phosphorylated active metabolite of Remdesivir® (RGS‐P3) bind to functional proteins of SARS‐CoV‐2, that is, the replicase polyprotein P0DTD1, the spike glycoprotein P0DTC2, and the nucleoprotein P0DTC9. Using P0DTD1, AKBA and KBA showed micromolar binding affinity to the RNA‐dependent RNA polymerase (RdRp) and to the main proteinase complex Mpro. Phosphorylated BAs even bond in the nanomolar range. Due to their positive and negative charges, BAs and RGS‐P3 bond to corresponding negative and positive areas of the protein. BAs and RGS‐P3 docked in the tunnel‐like cavity of RdRp. BAs also docked into the elongated surface rim of viral Mpro. In both cases, binding occurred with active site amino acids in the lower micromolecular to upper nanomolar range. KBA, BBA, and RGS‐P3 also bond to P0DTC2 and P0DTC9. The binding energies for BAs were in the range of −5.8 to −6.3 kcal/mol. RGS‐P3 and BAs occluded the centrally located pore of the donut‐like protein structure of P0DTC9 and, in the case of P0DTC2, RGS‐P3 and BAs impacted the double‐wing‐like protein structure. The data of this bioinformatics study clearly show that BAs bind to three functional proteins of the SARS‐CoV‐2 virus responsible for adhesion and replication, as does RGS‐P3, a drug on the market to treat this disease. The binding effectiveness of BAs can be increased through phosphate esterification. Whether or not BAs are druggable against the SARS‐CoV‐2 disease remains to be established., Bioinformatic methods showed that acetyl‐11‐keto‐β‐boswellic acid, 11‐keto‐β‐boswellic acid, β‐boswellic acid, and the phosphorylated active metabolite of Remdesivir® bind to functional proteins of SARS‐CoV‐2: the replicase polyprotein P0DTD1, the spike glycoprotein P0DTC2, and the nucleoprotein P0DTC9. The binding effectiveness of the boswellic acids can be increased through phosphate esterification.

This paper reviews our recent investigations about semipolar GaN-based optoelectronic heterostructures grown on foreign substrates. Two basically different approaches are discussed, both making use of epitaxial growth in the polar c-direction to minimize any crystalline defects. By selective area growth, stripes with triangular cross-section have been formed with semipolar side-facets, on which quantum well and electroluminescence test structures have been deposited. By careful optimisation of many growth parameters, we could drastically increase the growth temperature of GaInN quantum wells emitting beyond 500 nm. In the second approach, the GaN growth starts on inclined sapphire c-planes, which form the side facets of trenches etched into the substrates. After coalescence, planar semipolar GaN layers can be achieved. We investigated various sapphire wafer orientations leading to {112‾2}, {101‾1}, and {202‾1} layers. After careful optimisation with a major focus on the decrease of the stacking fault density, we have also investigated the doping behaviour of such semipolar structures. Eventually, full electroluminescence test structures could be grown.

In this contribution, we demonstrate that for non-and semipolar AlInN one-dimensionally lattice-matched to GaN, controlled relaxation in different in-plane directions of the growth surface can be induced. All of our samples were grown on (11 (2) over bar2) GaN templates on patterned r-plane sapphire as well as on moriented 6H-SiC substrates and free-standing pseudo-bulk GaN substrates. The InN mole fraction of the Al1-xInxN is varied from 18% up to 28% corresponding to one-dimensional lattice matching in various in-plane directions of the growth surface. By controlling the composition as well as the thickness, we realized one-dimensional relaxation of the AlInN layers along the nonlattice-matched direction. This opens new perspectives for strain and polarization engineering in optically active layers grown subsequently and gives new possibilities to design high indium-containing GaInN quantum well structures for efficient long wavelength light emitters. (C) 2015 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim

In this article, the growth and coalescence of semi-polar oriented GaN layers, deposited on pre-structured r-plane sapphire substrates, is studied with the help of Si-doped marker layers. It has been found to be very important to adjust the shape of the initial GaN stripes by varying the growth temperature to obtain not only a smooth surface, but also a small density of basal plane stacking faults (BSFs) and threading dislocations (TDs) on the wafer surface. With the help of transmission electron microscopy (TEM) and cathodoluminescence measurements (CL), we can conclude that during growth, we need to achieve a compromise between small BSF density, small TD density, and perfect coalescence with smooth surface, free of fissures, and other growth artifacts. Also the formation of arrow-head-shaped surface artifacts called “chevrons” [1, 2] can be understood to be caused by imperfect coalescence. We observe with the help of the marker layers that the growth rate fluctuates between neighboring stripes. This effect strongly increases for higher growth temperature.

authoren InGaN multiple quantum well light-emitting diodes (LEDs) were grown on chemically–mechanically polished (112―2) GaN templates (up to 100 mm diameter wafers) by metalorganic vapour phase epitaxy. Initial GaN overgrowth on the polished templates in nitrogen ambient maintained the polished surface. The peak emission wavelength of the LEDs varied from 445 to 550 nm. In contrast to the simultaneously grown LEDs on as-grown templates, the LEDs on polished templates have very smooth surface morphology, uniform luminescence, and higher output power. Fluorescence images of 445 nm LEDs grown on (a) as-grown and (b) polished (112―2) GaN templates.

Aberrations of chromosome arm 19p in ovarian cancer were first described decades ago and have been confirmed in recent publications, which have focused on chromosome 11 as a translocation partner. Recently, genetic analysis of the ovarian cancer cell line SKOV3 revealed a rearrangement described as der(19)t(11;19)(q13.2;p13.2), which lead to a fusion protein containing parts of HOOK2 and frame shifted ACTN3 that had unknown functionality. To evaluate the frequency of these breakpoints, we used fluorescence in situ hybridization (FISH) probes flanking these genes for interphase analysis of ovarian cancer cells. We analyzed 49 primary cell cultures of ovarian cancers using FISH probes next to these breakpoints on chromosomes 11 and 19 defined in SKOV3. Co-localizations of the signals in interphase nuclei were considered to be positive fusions when the frequency was over the experimentally calculated cutoff of 24.3% (mean average value for normal ovary cells plus three times the standard deviation). Fusions between 11q13.2 and 19p13.2 were confirmed in 22 (45%) primary cell cultures of ovarian cancers. However, by PCR, the fusion originally described in SKOV3 was not detected in any of the primary cell cultures. Our results confirm other reports and show that these regions are very frequently involved in chromosomal rearrangements in ovarian cancer. Furthermore, they reveal a significant correlation (P = 0.023) of co-localized signals of 11q13.2 and 19p13.2 with low and intermediate grades in ovarian cancer.

In this article two methods for improvements of (112) oriented semipolar GaN grown by MOVPE on prestructured sapphire substrates are investigated. The integration of a SiNx interlayer helps to obtain a better crystal quality. Also the overgrowth of the MOVPE samples by HVPE is a way to obtain a smoother GaN surface. A high incorporation of oxygen on (11-22) oriented GaN compared to (0001) oriented GaN grown by HVPE was observed. (© 2014 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim)

Background and Objective The rabbit is the most common animal model to study retinal photocoagulation lesions. We present a classification of retinal lesions from rabbits, that is based on optical coherence tomographic (OCT) findings, temperature data, and OCT-follow-up data over 3 months. Materials and Methods Four hundred eighty-six photocoagulation lesions (modified Zeiss Visulas® 532 nm CW laser, lesion diameter 133 µm, exposure duration 200 milliseconds or variable, power variable) were analyzed from six eyes of three chinchilla gray rabbits. During the irradiation of each lesion, we used an optoacoustics-based method to measure the retinal temperature profile. Two hours, 1 week, 1 month, and 3 months after the treatment, we obtained fundus color and OCT (Spectralis®) images of each lesion. We classified the lesions according to their OCT morphology and correlated the findings to ophthalmoscopic and OCT lesion diameters, and temperatures. Results Besides an undetectable lesion class 0, we discerned subthreshold lesions that were invisible on the fundus but detectable in OCT (classes 1 and 2), very mild lesions that were partly visible on the fundus (class 3), and 3 classes of suprathreshold lesions. OCT greatest linear diameters (GLDs) were larger than ophthalmoscopic lesion diameters, both increased for increasing classes, and GLDs decreased over 3 months within each class. Mean peak end temperatures for 200 milliseconds lesions ranged from 61°C in class 2 to 80°C in class 6. Conclusion The seven step rabbit lesion classifier is distinct from a previously published human lesion classifier. Threshold lesions are generated at comparable temperatures in rabbits and humans, while more intense lesions are created at lower temperatures in rabbits. The OCT lesion classifier could replace routine histology in some studies, and the presented data may be used to estimate lesion end temperatures from OCT images. Lasers Surg. Med. 45:427–436, 2013. © 2013 Wiley Periodicals, Inc.

Imprinting disorders are associated with mutations and epimutations affecting imprinted genes, that is those whose expression is restricted by parent of origin. Their diagnosis is challenging for two reasons: firstly, their clinical features, particularly prenatal and postnatal growth disturbance, are heterogeneous and partially overlapping; secondly, their underlying molecular defects include mutation, epimutation, copy number variation, and chromosomal errors, and can be further complicated by somatic mosaicism and multi-locus methylation defects. It is currently unclear to what extent the observed phenotypic heterogeneity reflects the underlying molecular pathophysiology; in particular, the molecular and clinical diversity of multilocus methylation defects remains uncertain. To address these issues we performed comprehensive methylation analysis of imprinted genes in a research cohort of 285 patients with clinical features of imprinting disorders, with or without a positive molecular diagnosis. 20 of 91 patients (22%) with diagnosed epimutations had methylation defects of additional imprinted loci, and the frequency of developmental delay and congenital anomalies was higher among these patients than those with isolated epimutations, indicating that hypomethylation of multiple imprinted loci is associated with increased diversity of clinical presentation. Among 194 patients with clinical features of an imprinting disorder but no molecular diagnosis, we found 15 (8%) with methylation anomalies, including missed and unexpected molecular diagnoses. These observations broaden the phenotypic and epigenetic definitions of imprinting disorders, and show the importance of comprehensive molecular testing for patient diagnosis and management.

The microstructure of semi-polar (11–22) GaN templates grown on pre-structured r-plane sapphire by MOVPE has been characterized by TEM. Cross-sectional observations indicate that defects are generated in three regions of the layers: threading dislocations at the inclined GaN/sapphire interface, basal plane stacking faults (BSFs) at the c−-wing, BSFs and threading dislocations at the coalescence between neighboring GaN stripes. An in situ SiN interlayer deposited at an early stage of the growth is shown to be effective in blocking the propagation of dislocations, which is mainly attributed to SiN formed on the c-plane rather than on the (11–22) plane. Si-doped marker layers have been used to study the evolution of the growth front before coalescence as a function of temperature. A high growth temperature is associated with the formation of highly faceted GaN stripes. Dislocations originally running along the c-direction are bent to the [11–20] direction driven by a progressing (11–22) facet. An efficient defect reduction is realized as a result of terminating these dislocations at voids partially defined by the (11–20) facet.

The newly introduced Nexfin(®) device allows analysis of the blood pressure trace produced by a non-invasive finger cuff. We compared the cardiac output derived from the Nexfin and PiCCO, using transcardiopulmonary thermodilution, during cardiac surgery. Forty patients with preserved left ventricular function undergoing elective coronary artery bypass graft surgery were studied after induction of general anaesthesia and until discharge to the intensive care unit. There was a significant correlation between Nexfin and PiCCO before (r(2) = 0.81, p < 0.001) and after (r(2) = 0.56, p < 0.001) cardiopulmonary bypass. Bland-Altman analysis demonstrated the mean bias of Nexfin to be -0.1 (95% limits of agreement -0.6 to +0.5, percentage error 23%) and -0.1 (-0.8 to +0.6, 26%) l.min(-1).m(-2), before and after cardiopulmonary bypass, respectively. After a passive leg-raise was performed, there was also good correlation between the two methods, both before (r(2) = 0.72, p < 0.001) and after (r(2) = 0.76, p < 0.001) cardiopulmonary bypass. We conclude that the Nexfin is a reliable method of measuring cardiac output during and after cardiac surgery.

Microdeletions of the 2q31.1 region are rare. We present the clinical and molecular findings of eight previously unreported patients with overlapping deletions in 2q31.1. The patients have a variable clinical phenotype and present with developmental delay (7/8), growth retardation (5/8), seizures (2/8) and a craniofacial dysmorphism consisting of microcephaly (4/8), short palpebral fissures (7/8), broad eyebrows with lateral flare (7/8), low-set ears with thickened helices and lobules (5/8), and micrognathia (6/8). Additional congenital anomalies were noted, including limb abnormalities (8/8), heart defects (3/8), genital anomalies (3/8), and craniosynostosis (1/8). Six of these microdeletions, ranging in size from 1.24 to 8.35 Mb, were identified by array CGH, one larger deletion (19.7 Mb) was detected by conventional karyotyping and further characterized by array CGH analysis. The smallest region of overlap in all eight patients spans at most 88 kb and includes only the WIPF1 gene. This gene codes for the WAS/WASL interacting protein family member 1. The patients described here do not present with clinical signs of the Wiskott-Aldrich syndrome and the deletion of this single gene does not allow explaining the phenotype in our patients. It is likely that the deletion of different but overlapping sets of genes from 2q31 is responsible for the clinical variability in these patients. To further dissect the complex phenotype associated with deletions in 2q31, additional patients with overlapping phenotypes should be examined with array CGH. This should help to link particular phenotypes to specific genes, and add to our understanding of the underlying developmental processes.

Seizure disorders of the rolandic region comprise a spectrum of different epilepsy syndromes ranging from benign rolandic epilepsy to more severe seizure disorders including atypical benign partial epilepsy/pseudo-Lennox syndrome,electrical status epilepticus during sleep, and Landau-Kleffner syndrome. Centrotemporal spikes are the unifying electroencephalographic hallmark of these benign focal epilepsies, indicating a pathophysiologic relationship between the various epilepsies arising from the rolandic region. The etiology of these epilepsies is elusive, but a genetic component is assumed given the heritability of the characteristic electrographic trait. Herein we report on three patients with intellectual disability, various dysmorphic features, and epilepsies involving the rolandic region, carrying previously undescribed deletions in 16p13. The only gene located in the critical region shared by all three patients is GRIN2A coding for the alpha-2 subunit of the neuronal N-methyl-D-aspartate(NMDA) receptor.

Robertsonian translocations 13/14 are the most common chromosome rearrangements in humans. However, most studies aimed at determining risk figures are more than 20 years old. Their results are often contradictory regarding important topics in genetic counseling such as infertility and unfavorable pregnancy outcomes. Here, we present a study on a sample of 101 previously unreported pedigrees of der(13;14)(q10;q10). In order to minimize problems of partial ascertainment, we included families with a wide range of reasons of ascertainment such as birth of a child with congenital anomalies, prenatal diagnosis due to maternal age, fertility problems and recurrent pregnancy loss. No evidence of increased infertility rates of female and male carriers was found. The detected miscarriage frequency of female carriers was higher than previously reported (27.6 +/- 4.0% of all spontaneous pregnancies). This may be explained by an over-correction of earlier studies, which excluded all unkaryotyped miscarriages. In three out of 42 amniocenteses, translocation trisomies 13 were diagnosed (7.1 +/- 4.0% of all amniocenteses). The frequency of stillbirths was 3.3 +/- 1.6% for female carriers and 1.4 +/- 1.4% for male carriers. A low risk for the live birth of translocation trisomy 13 children was confirmed since no live born children with trisomy 13 or Pätau syndrome were detected in the ascertainment-corrected sample.

We present clinical and developmental data on a patient with a de novo terminal deletion of the long arm of chromosome 4. Cytogenetic studies after G-banding revealed the karyotype 46,XY,del(4)(q34). The 4-year-old male showed mild facial dysmorphism, moderate mental retardation with speech retardation, and marked deficits in gross motor skills. Our patient is the second with this deletion described in the literature. In both patients the phenotype was characterized by mild to moderate mental retardation, abnormalities of the pinnae, and nonspecific facial dysmorphism. The mild phenotype might explain why only two patients with this deletion have been described so far.

Summary Objective The polymorphic deletion of exon 3 of the GH receptor (d3-GHR) has recently been linked to the magnitude of growth response to recombinant human GH (rhGH) therapy in short children with or without GH deficiency. We investigated this association in a large multinational cohort from the Network of European Studies of Genes in Growth (NESTEGG), comprising short children born small for gestational age (SGA). Design The study included short prepubertal SGA children treated with rhGH for 1 or 2 years. Population Two hundred and forty white Caucasian SGA children (138 male, 102 female) aged 6·6 ± 2·3 years with a height at ‐3·0 ± 0·7 SDS at start of rhGH treatment; 193 ethnically matched controls. Methods The GHR polymorphism (fl/fl, fl/d3 or d3/d3) was genotyped by polymerase chain reaction (PCR) multiplex assay. Growth velocity (G/V) in cm/year and changes in GV during the first and second year of rhGH treatment were evaluated. Results The change in GV was significantly greater in SGA children carrying one or two copies of the d3-GHR allele ( P = 0·038 for the first year and P = 0·041 for the second year of GH treatment), but the change in height was not significantly different. Birthweight was significantly lower in SGA children with the d3/d3 genotype than in SGA children with the fl/fl genotype ( P = 0·034) and in those with the fl/d3 genotype ( P = 0·016). Conclusion Our data, based on a large cohort, showed that the exon 3 GHR polymorphism is associated with responsiveness to rhGH treatment in SGA children with short stature.

Solid-state {sup 31}P nuclear magnetic resonance (NMR) and x-ray absorption near edge structure (XANES) spectroscopies have provided knowledge on metal speciation of inorganic P. No effort has been made, however, to accurately assign speciated metal phytates (inositol hexaphosphoric acid salts) using these advanced techniques. Phytate is a predominant form of organic P in animal manure, soil, and other organic substances as each year 51 million Mg of phytate are formed in crops and fruits globally. Currently, the interactions and fate of phytate in the environment are poorly understood. Here we show the solid-state spectral characteristics of six metal phytates. Both spectra were affected by the metal species of the phytates, as significant differences were observed in the shape and position of spectra among the metal phytates. Reference spectra of these pure metal phytate compounds may help in identifying metal species of phytate in environmental samples by these advanced spectroscopic technologies.

A boy with signs of Klinefelter syndrome, mild facial dysmorphic features, and severely retarded speech development displayed a female karyotype with mosaicism for two marker chromosomes 48,XX,+mar1,+mar2[68]/47,XX,+mar1[19]/47,XX,+mar2[6]/46,XX[8]. Using chromosomal microdissection, locus-specific fluorescence in situ hybridization (FISH), and PCR with several Y-chromosome markers, the larger supernumerary marker chromosome (SMC) was characterized as a ring Y-chromosome. Detection of the SRY-region explained the male phenotype. The smaller second marker chromosome contained the pericentromeric region of chromosome 8. We suggest that the co-occurrence of a partial Y-chromosome and partial trisomy 8 explain the severe speech delay and the facial dysmorphic features.

We report on a female fetus with partial trisomy 9 due to a reciprocal translocation in the mother. Routine ultrasound examination at 23 weeks showed hypoplasia of the cerebellar vermis, dilated foramen Magendii, and dilatation of the cisterna magna. Due to the poor prognosis, the parents opted for termination of pregnancy. A postmortem examination confirmed caudal hypoplasia and dysplasia of the cerebellar vermis, resulting in a massively dilated foramen Magendii through which the enlarged cisterna magna communicated with the fourth ventricle. There was also micropolygyria indicating migration disorder. Cytogenetic studies showed a 47,XX,+der(9)t(7;9) (q35;q22.2)mat karyotype. Investigation of the parents revealed a translocation (7;9) (q35;q22.2) in the mother and a normal male karyotype in the father. We systematically searched the chromosome 9 gene map for genes that were trisomic in our fetus and genes that were located on the regions that had the normal two copies of genes. Genes that could potentially be involved in the formation of the Dandy-Walker phenotype are transcription factors or genes responsible for the regulation of normal in particular cerebral development but also adhesion molecules. We conclude that one cause for Dandy-Walker malformation could be a gene dosage effect of genes located on 9pter-9q22. In addition, it seems that absence of trisomy 9 in q22-pter does not prevent abnormal cerebellar development.

GaSb/GaAs(111)A layers with embedded Mn(Ga)Sb clusters have been grown by molecular beam epitaxy method at the substrate temperature of 450 °C. The results of structural characterization of (Ga,Mn)Sb with Mn concentration up to 8% are presented. Almost all Mn atoms introduced into the GaSb layers form hexagonal Mn(Ga)Sb clusters. Large hexagonal clusters with various shape and dimensions were detected by scanning electron microscopy. (© 2009 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim)

Anomalies of venous return due to absence of the ductus venosus have been described in the literature. This is a report of the prenatal diagnosis of two cases of isolated ductus venosus agenesis occurring at 20 and 37 weeks' gestation, confirmed postnatally by color-coded Doppler sonography. In both cases the hepatic veins assumed the function of the ductus venosus without compromising fetal hemodynamics or causing hydrops. In the first case, a healthy female infant was delivered at term. In the second case, a 46,XY,dup(8) (q21.1q22)[35]/47,idem, + r(8)[15] karyotype was diagnosed by amniocentesis. The male newborn showed facial anomalies, a bell-shaped thorax and increased intermamillary distance. There was muscular hypotonia, delayed psychomotor development and an inspiratory stridor leading to obstructive nocturnal dyspnea. On the basis of our observations in these two cases and previous reports from animal studies, we conclude that absence of the ductus venosus may be compatible with normal fetal development without relevant disturbance of circulation and oxygenation.

Hypophosphatasia is a rare inherited disease, the 1st clinical sign of which is often a premature loss of deciduous teeth. We describe clinical, histological and SEM findings of 2 cases of hypophosphatasia from a single family and discuss the pathological mechanisms with reference to the literature.