University Medical Center Hamburg-Eppendorf, Germany.

In this study, the anatomy of the anorectum in relation to the surrounding structures and the anorectal angle were analyzed with magnetic resonance (MR) imaging at rest, during perineal contraction, and during straining in 10 asymptomatic subjects. The intra- and inter-observer and intra- and interpatient variations in the measurements of the anorectal angle, position of the anorectal junction, and position of the plica of Kohlrausch in the rectum were established at rest, during perineal contraction, and during straining. The values for the anorectal angle and position of the anorectal junction obtained with MR imaging were compared with standard radiography defecography findings. It was shown that MR imaging has the potential for measuring these parameters in a more precise and more patient-friendly way than defecography. Unlike dynamic defecography, MR imaging is able to depict the mobility of the posterior rectal wall. A descent of over 20 mm from rest to straining should be considered pathologic. This finding might play a role in patient selection for operation.

Purpose: To determine if postmortem computed tomography (CT) and postmortem CT angiography help to detect more lesions than autopsy in postmortem examinations, to evaluate the strengths and weaknesses of each method, and to define their indications. Materials and Methods:Postmortem CT angiography was performed on 500 human corpses and followed by conventional autopsy. Nine centers were involved. All CT images were read by an experienced team including one forensic pathologist and one radiologist, blinded to the autopsy results. All findings were recorded for each method and categorized by anatomic structure (bone, organ parenchyma, soft tissue, and vascular) and relative importance in the forensic case (essential, useful, and unimportant).

University Medical Center Hamburg-Eppendorf.

PITX1 is a bicoid-related homeodomain transcription factor implicated in vertebrate hindlimb development. Recently, mutations in PITX1 have been associated with autosomal-dominant clubfoot. In addition, one affected individual showed a polydactyly and right-sided tibial hemimelia. We now report on PITX1 deletions in two fetuses with a high-degree polydactyly, that is, mirror-image polydactyly. Analysis of DNA from additional individuals with isolated lower-limb malformations and higher-degree polydactyly identified a third individual with long-bone deficiency and preaxial polydactyly harboring a heterozygous 35 bp deletion in PITX1. The findings demonstrate that mutations in PITX1 can cause a broad spectrum of isolated lower-limb malformations including clubfoot, deficiency of long bones, and mirror-image polydactyly.