Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism.

BACKGROUND: The HOXA1 gene plays a major role in brainstem and cranial morphogenesis. The G allele of the HOXA1 A218G polymorphism has been previously found associated with autism. METHODS: We performed case-control and family-based association analyses, contrasting 127 autistic patients with 174 ethnically matched controls, and assessing for allelic transmission disequilibrium in 189 complete trios. RESULTS: A, and not G, alleles were associated with autism using both case-control (chi(2) = 8.96 and 5.71, 1 df, p <.005 and <.025 for genotypes and alleles, respectively), and family-based (transmission/disequilibrium test chi(2) = 8.80, 1 df, p <.005) association analyses. The head circumference of 31 patients carrying one or two copies of the G allele displayed significantly larger median values (95.0th vs. 82.5th percentile, p <.05) and dramatically reduced interindividual variability (p <.0001), compared with 166 patients carrying the A/A genotype. CONCLUSIONS: The HOXA1 A218G polymorphism explains approximately 5% of the variance in the head circumference of autistic patients and represents to our knowledge the first known gene variant providing sizable contributions to cranial morphology. The disease specificity of this finding is currently being investigated. Nonreplications in genetic linkage/association studies could partly stem from the dyshomogeneous distribution of an endophenotype morphologically defined by cranial circumference.     

No major effect of orciprenaline and propranolol upon ACTH-induced cortisol secretion.

Preclinical research suggests adrenal beta-adrenergic receptors to be involved in the regulation of steroid synthesis. In a group of healthy male volunteers, we compared ACTH-induced cortisol and dehydroepiandrosterone (DHEA) secretion after pre-treatment with orciprenaline, propranolol or placebo. Neither baseline nor ACTH-induced steroid secretion differed between these conditions. Our data do not support the hypothesis that the adrenal beta-receptor plays a major role in steroid secretion in humans.     

Unterkieferrekonstruktion mit autologem Knochen und einem induktiven Implantat beim G?ttinger Minischwein

ZusammenfassungFragestellung In der vorliegenden Studie am Göttinger Minischwein wurde die direkte Rekonstruktion des Unterkiefers nach ausgedehnter Kontinuitätsresektion mit autologem Knochen und einem osteoinduktiven Implantat untersucht.Methode An neun ausgewachsenen Göttinger Minischweinen wurde ein einseitiger, 5 cm langer Unterkieferkontinuitätsdefekt gesetzt. Die Rekonstruktion erfolgte bei vier Tieren mit einem 50×25×15 mm³ großen, kollagenen Träger, dotiert mit rhBMP-2 (400 µg/cm³). Bei zwei Tieren wurde nur der Träger alleine implantiert und bei drei Tieren das lokal resezierte Knochensegment replantiert. Die Knochenregeneration und Konsolidierung der Defekte wurde radiologisch und histologisch analysiert.Ergebnisse Nach Rekonstruktion mit dem osteoinduktiven Implantat zeigte sich bei allen Versuchstieren eine komplette knöcherne Konsolidierung des gesetzten Unterkieferkontinuitätsdefekts. Der gesamte Defekt wurde von einem biomechanisch hochwertigen, sich funktionell anpassenden Knochen überbrückt. Nach Replantation des ortsständigen autologen Knochens wird dieser nicht schnell genug knöchern integriert. In der Peripherie bilden sich nur unvollständige Knochenbrücken aus; dies führt zum vollständigen Versagen der Rekonstruktion. Ebenso findet bei der Implantation des Trägers alleine keine Konsolidierung statt.Schlussfolgerung Die direkte Rekonstruktion eines ausgedehnten, biomechanisch belasteten Defekts mit einem osteoinduktiven Implantat erwies sich als die überlegene Methode. Das hierbei entstehende knöcherne Regenerat erfährt eine unmittelbare funktionelle Strukturierung. Die Notwendigkeit zu extensiven adaptiven Umbauvorgängen wird hierdurch minimiert.     

Laryngeal damage due to an unexpectedly large and inappropriately designed cuffed pediatric tracheal tube in a 13-month-old child

PURPOSE: To present a case of laryngeal damage in an infant caused by a too large and inappropriately designed cuffed tracheal tube. CLINICAL FEATURES: A 13-month-old child undergoing cardiac surgery was intubated with an uncuffed endotracheal tube with an internal diameter (ID) of 4.0 mm. Because of an important air leak around the tracheal tube during mechanical ventilation, a cuffed endotracheal tube ID 4.0 mm was inserted. The air leak with the tube cuff not inflated was acceptable at 25 cm H2O airway pressure. After extubation on the third postoperative day, the patient showed increasing stridor and respiratory deterioration. Fibreoptic laryngoscopy of the spontaneously breathing patient showed a large intra-laryngeal web. After surgical removal of the web, the child rapidly recovered and was discharged from the hospital on the 12th postoperative day. Inspection of the 4.0 mm (ID) cuffed tracheal tube revealed a cuff positioned inappropriately high and an increase of 0.7 mm in outer tube diameter compared to the 4.0 mm (ID) uncuffed tracheal tube from the same manufacturer. The tube cuff is likely to be situated within the larynx when placed in accordance to insertion depth formulas or radiological criteria, as used for uncuffed tracheal tubes in children. CONCLUSION: The larger than expected tracheal tube with its intra-laryngeal cuff position in a 13-month-old child likely caused mucosal damage and an inflammatory reaction within the larynx resulting in granulation tissue formation and fibrous healing around the tracheal tube.     

Truncus-coeliacus-Kompressionssyndrom

The celiac axis compression syndrome is a rare disease in adults. In childhood it is extremely uncommon. Vascular reasons or chronic irritation of the celiac ganglion are discussed as causes for this syndrome, leading to chronic abdominal pain. Lateral aortography is acknowledged to be the best method for diagnosis of the celiac axis compression syndrome. New duplex scanning methods are gaining more and more importance. The indication for surgery is the subject of controversy in the current literature. We present the case of a 15-year-old girl who recovered completely after transsection of the ligamentum arcuatum medianum and resection of the celiac ganglion.