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We report on a young woman with Jacobsen syndrome (JBS) who was admitted to our psychiatric department because of a bipolar affective disorder (BPAD). Chromosome analysis was performed due to the fact that she had mental retardation, short stature, and subtle facial anomalies. A deletion of the distal long arm of chromosome 11 was found. A detailed mapping of the deletion breakpoint by quantitative real time PCR revealed a true terminal 11q deletion of approximately 8 Mb corresponding to the karyotype 46,XX,del(11)(q24.2). Polymorphic DNA marker analysis showed that the deletion is located on the paternal chromosome. Additionally, laboratory investigations revealed a low platelet count and magnetic resonance imaging of the brain showed white matter T2 hyperintensities in frontotemporal regions, which are unlikely to result from a demyelinating process as indicated by localized proton magnetic resonance spectroscopy. To our knowledge, this is the first report describing a BPAD in a case with JBS. © 2006 Wiley‐Liss, Inc.

Isopseudodicentric chromosome 18 is very rare and results in a combination of partial trisomy and partial monosomy of chromosome 18. We report here a hypotrophic newborn with a lateral cleft lip and palate and multiple craniofacial dysmorphisms, a combined heart defect, unilateral hypoplasia of the kidney, bilateral aplasia of thumbs, and generalized contractures. Cytogenetic analysis revealed an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter → q22.1::q22.1 → pter)). The isopseudodicentric chromosome 18 was observed in 100% of blood lymphocytes and umbilical cord fibroblasts, thus indicating a non‐mosaic finding of the isopseudodicentric chromosome in the child. An elongated derivative chromosome 18 had also been found prenatally in amniotic cells. In contrast, a terminal deletion (18q−) was detected in placental cell cultures. The breakpoint was mapped to a 0.9 Mb region on 18q22.1 (located 64.8–65.7 Mb from the telomere of the p‐arm) by a novel quantitative PCR approach with SYBR green detection. The results indicate an identical breakpoint of the isopseudodicentric chromosome 18 in the child and the 18q− chromosome in the placenta. To our knowledge this is the first report that a fetus carrying an isopseudodicentric chromosome 18 with breakpoint in 18q (46,XX,psu idic(18)(pter → q22.1::q22.1 → pter)) in non‐mosaic form can be viable, but is associated with severe congenital malformations of the child. © 2003 Wiley‐Liss, Inc.

The subject and purpose of the prospective study was to delineate coronary artery bypass graft (CABG) course and to determine patency of aortocoronary venous bypass grafts (ACVB) compared with internal mammary artery bypass grafts (IMA) in the early postoperative follow-up, by contrast enhanced magnetic resonance angiography (MRA). For control, patients were examined with X-ray angiography and spiral-computed tomography (CT).

A new technique to reduce the losses of angle-tuned frequency doubling is described. Single-mode dye-laser radiation is injected in an external cavity containing a 7 mm LiIO3 crystal, which is placed in a cuvette with index matching fluid. In this way, more than 5mW usable uv power was achieved over a spectral range of more than 10 nm in uv.

Zusammenfassung: Grundlagen: Die chirurgische Entfernung von Lungenmetastasen ist seit mehreren Jahrzehnten etablierter Bestandteil des therapeutischen Konzepts und ist mit einer etwa 30% igen mittleren 5-Jahres-berlebensrate assoziiert. Ziel dieser Arbeit ist es, die aktualisierten Ergebnisse mit der chirurgischen Behandlung von Lungenmetastasen an unserer klinischen Abteilung zu prsentieren und die heutige Rolle der Chirurgie in der Behandlung dieser Erkrankung anhand der verfgbaren Literatur kritisch zu beleuchen. Methodik: Im Zeitraum 1989 bis 1994 wurden an unserer Abteilung insgesamt 392 thoraxchirurgische Eingriffe zur Entfernung von Lungenmetastasen durchgefhrt. In 64% der Flle handelte es sich bei dem Primrtumor um ein Karzinom (38% kolorektales Karzinom, 32% Mammakarzinom, 30% Hypernephrom). In 27% war ein Sarkom und in 9% ein Melanom der Ausgangspunkt des metastatischen Geschehens. Als operativer Zugang der Wahl wurde bis 1992 in 2 Drittel der Flle die laterale Thorakotomie gewhlt, seit 1992 wurden mehr als die Hlfte der Eingriffe ber die mediane Sternotomie durchgefhrt. Bei 48 Patienten erfolgte die Metastasenresektion mittels videothorakoskopischer Techniken. Pro Eingriff wurden 1 bis 8 Metastasen reseziert (Mittel=1,75), in 84,5% war mittels atypischer Segmentresektion eine komplette Resektion gewhrleistet, bei 13,5% war eine Lobektomie, bei 2% eine Pneumonektomie erforderlich. Ergebnisse: Die 5-Jahres-berlebensrate nach makroskopisch und histologisch komplett operierten Lungenmetastasen aller histologischen Typen betrug 34%. Nach Karzinomen war die 5-Jahres-berlebensrate 41%, nach Sarkomen 30%, die 3-Jahres-berlebensrate nach Melanomen war 9%. Die 5-Jahres-berlebensrate nach Osteosarkom war mit 36% signifikant besser, als nach Weichteilsarkom (23%). Innerhalb der Karzinomgruppe zeigte sich eine deutliche Abhngigkeit der 5-Jahres-berlebensrate vom rezidivfreien Intervall nach Operation des Primrtumors. Unabhngig vom histologischen Typ war die 5-Jahres-berlebensrate hauptschlich von der Tatsache bestimmt, ob bei der Metastasenresektion eine makroskopische und histologische Tumorfreiheit erzielt werden konnte. Schlufolgerungen: Von primrer prognostischer Bedeutung fr das Langzeitberleben nach Resektion von Lungenmetastasen ist die Qualitt der Resektion (chirurgisch und histologisch komplette Entfernung der Metastasen). Der histologische Typ des Primrtumors, das tumorfreie Intervall nach Operation des Primrtumors und die Anzahl der Lungenmetastasen beeinflussen zustzlich den Verlauf der Erkrankung.

Freestanding electrodes for lithium ion batteries are considered as a promising option to increase the total gravimetric energy density of the cells due to a decreased weight of electrochemically inactive materials. We report a simple procedure for the fabrication of freestanding LiFe0.2Mn0.8PO4(LFMP)/rGO electrodes with a very high loading of active material of 83 wt%, high total loading of up to 8 mg cm−2, high energy density, excellent cycling stability and at the same time very fast charging rate, with a total performance significantly exceeding the values reported in the literature. The keys to the improved electrode performance are optimization of LFMP nanoparticles via nanoscaling and doping; the use of graphene oxide (GO) with its high concentration of surface functional groups favoring the adhesion of high amounts of LFMP nanoparticles, and freeze-casting of the GO-based nanocomposites to prevent the morphology collapse and provide a unique fluffy open microstructure of the freestanding electrodes. The rate and the cycling performance of the obtained freestanding electrodes are superior compared to their Al-foil coated equivalents, especially when calculated for the entire weight of the electrode, due to the extremely reduced content of electrochemically inactive material (17 wt% of electrochemically inactive material in case of the freestanding compared to 90 wt% for the Al-foil based electrode), resulting in 120 mAh g−1electrodein contrast to 10 mAh g−1electrodeat 0.2 C. The electrochemical performance of the freestanding LFMP/rGO electrodes is also considerably better than the values reported in literature for freestanding LFMP and LMP composites, and can even keep up with those of LFP-based analogues. The freestanding LFMP/rGO reported in this work is additionally attractive due to its high gravimetric energy density (604 Wh kg−1LFMPat 0.2C). The obtained results demonstrate the advantage of freestanding LiFe0.2Mn0.8PO4/rGO electrodes and their great potential for applications in lithium ion batteries.