Midline crossing pulmonary vein: right upper lobe dual venous drainage, with partial anomalous venous return of the right lung into a persistent left superior vena cava.

INTRODUCTION: We present a case of dual drainage of the right upper lobe of the lung into the left atrium and via partial anomalous venous pulmonary return (PAPVR) into a persistent left superior vena cava (SVC). DISCUSSION: It is only in the minority of PAPVR cases where the anomalous pulmonary veins cross the midline. We provide a review of current literature on this topic and an explanatory embryological model. Knowledge of embryonic development and possible anatomic variations, including the concept of dual venous drainage of the lung, leads to better interpretation of imaging, with more accurate description of the morphology at hand. High-resolution multidetector computed tomography (MDCT) helps to delineate the exact vascular anatomy. This will enhance a better understanding of and anticipation on the patient's disease status, with more accurate planning of intervention, and possibly less complications.

Novel imaging techniques to study postmortem human fetal anatomy: a systematic review on microfocus-CT and ultra-high-field MRI.

BACKGROUND: MRI and CT have been extensively used to study fetal anatomy for research and diagnostic purposes, enabling minimally invasive autopsy and giving insight in human fetal development. Novel (contrast-enhanced) microfocus CT (micro-CT) and ultra-high-field (≥ 7.0 T) MRI (UHF-MRI) techniques now enable micron-level resolution that combats the disadvantages of low-field MRI and conventional CT. Thereby, they might be suitable to study fetal anatomy in high detail and, in time, contribute to the postmortem diagnosis of fetal conditions. OBJECTIVES: (1) To systematically examine the usability of micro-CT and UHF-MRI to study postmortem human fetal anatomy, and (2) to analyze factors that govern success at each step of the specimen preparation and imaging. METHOD: MEDLINE and EMBASE were systematically searched to identify publications on fetal imaging by micro-CT or UHF-MRI. Scanning protocols were summarized and best practices concerning specimen preparation and imaging were enumerated. RESULTS: Thirty-two publications reporting on micro-CT and UHF-MRI were included. The majority of the publications focused on imaging organs separately and seven publications focused on whole body imaging, demonstrating the possibility of visualization of small anatomical structures with a resolution well below 100 µm. When imaging soft tissues by micro-CT, the fetus should be stained by immersion in Lugol's staining solution. CONCLUSION: Micro-CT and UHF-MRI are both excellent imaging techniques to provide detailed images of gross anatomy of human fetuses. The present study offers an overview of the current best practices when using micro-CT and/or UHF-MRI to study fetal anatomy for clinical and research purposes. KEY POINTS: • Micro-CT and UHF-MRI can both be used to study postmortem human fetal anatomy for clinical and research purposes. • Micro-CT enables high-resolution imaging of fetal specimens in relatively short scanning time. However, tissue staining using a contrast solution is necessary to enable soft-tissue visualization. • UHF-MRI enables high-resolution imaging of fetal specimens, without the necessity of prior staining, but with the drawback of long scanning time.

Relationship between bullet diameter and bullet defect diameter in human calvariums.

Existing literature on the relationship between bullet diameter and bullet defect diameter in the human calvarium is summarized and discussed. The hypothesis, derived from the literature, that bullet deformation influences bullet defect diameter was studied in a small controlled experiment. The mean defect size caused by non-deforming projectiles was found to be smaller than the mean defect size caused by deforming projectiles of equal original mass and size. The p value of the difference between the two means, measured in two different ways, was found to be 0.002 for both in a Mann-Whitney U test and was significant if the confidence level is set at 5%.

Added value of post-mortem computed tomography (PMCT) to clinical findings for cause of death determination in adult "natural deaths".

PURPOSE: The aim of this study was to investigate whether post-mortem computed tomography (PMCT) provides additional information regarding the cause of death and underlying diseases in a general practitioners' (GP), out-of-hospital population. METHODS AND MATERIALS: Bodies donated to our anatomy department between January 2014 and January 2018, who consecutively underwent a total body PMCT and had given permission for retrieval of their medical records during life, were included. PMCT scans were assessed by a radiologist and compared with the cause of death as stated in the medical records. Discrepancies were analyzed with an adjusted Goldman classification. RESULTS: Ninety-three out of the 274 scanned donors during the inclusion period had given consent for the retrieval of their medical records, of which 79 GP's responded to the request thereof (31 men, 48 women, average age 72.8 years, range 36-99). PMCT identified 49 (62%) cases of cancer, 10 (12.7%) cardiovascular diseases, 8 (10.1%) severe organ failures, 5 (6.3%) cases with signs of pneumonia, 2 (2.5%) other causes, and 7 (8.9%) cases without an (underlying) definitive cause of death. Eleven major discrepancies on the Goldman classification scale, with possible relevance to survival between PMCT and GP records, were identified. CONCLUSION: PMCT can have added value for the detection of additional findings regarding the cause of death in an out-of-hospital, GP's population, especially to identify or exclude major (previously non-diagnosed) underlying diseases.

The dimensions of the tarsal sinus and canal in different foot positions and its clinical implications.

This study presents a reference for the dimensions of the tarsal sinus and canal in healthy adults in different foot positions to facilitate understanding of the kinematics of the subtalar joint, the effect of an implant, and other clinical issues. In a 3D CT stress test on 20 subjects, the right foot was forced into a neutral and eight different extreme foot positions while CT scans were obtained. The bones were segmented in the neutral foot position. The kinematics of the bones in the extreme positions were determined relative to the neutral position. The dimensions of the tarsal sinus and canal were calculated by determining the radii of the maximal inscribed spheres at 20 equidistant locations along an axis in 3D surface models of the tali and calcanei in each foot position. The radii were small on the medial side and increased laterally. Medial from the middle, the radii were small and not significantly different among the various foot positions. At the lateral side, the dimensions were affected mainly by eversion or inversion and less by dorsiflexion or plantarflexion. The pattern was reproducible among subjects, but there were between-subject differences. The dimensions are mostly determined by rotation in the frontal plane. A pivot point was found medial from the middle. These data serve as a reference and model for predicting the effect of sinus implants and understanding such clinical problems as sinus tarsi syndrome. Between-subjects differences have to be taken into account. Clin. Anat. 30:1049-1057, 2017. © 2017 Wiley Periodicals, Inc.

Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal.

BACKGROUND: The T gene (brachyury gene) is the founding member of the T-box family of transcription factors and is vital for the formation and differentiation of the mesoderm and the axial development of all vertebrates. RESULTS: We report here on four patients from three consanguineous families exhibiting sacral agenesis, a persistent notochordal canal and abnormal ossification of the vertebral bodies, and the identification and characterisation of their underlying genetic defect. Given the consanguineous nature and the similarity of the phenotypes between the three families, we performed homozygosity mapping and identified a common 4.1 Mb homozygous region on chromosome 6q27, containing T, brachyury homologue (mouse) or T. Sequencing of T in the affected individuals led to the identification of a homozygous missense mutation, p.H171R, in the highly conserved T-box. The homozygous mutation results in diminished DNA binding, increased cell growth, and interferes with the normal expression of genes involved in ossification, notochord maintenance and axial mesoderm development. CONCLUSIONS: We have identified a shared homozygous mutation in three families in T and linked it to a novel syndrome consisting of sacral agenesis, a persistent notochordal canal and abnormal ossification of the vertebral bodies. We suggest that screening for the ossification of the vertebrae is warranted in patients with sacral agenesis to evaluate the possible causal involvement of T.

Postmortem imaging exposed: an aid in MR imaging of musculoskeletal structures.

OBJECTIVE: To identify factors that influence the quality of postmortem magnetic resonance (MR) images of musculoskeletal (MSK) structures as described in the literature, and to evaluate the extent to which these MR images are affected. MATERIALS AND METHODS: Four useful studies were retrieved from a PubMed and EMBASE search, covering the literature up to 1 March 2012. Three additional studies were included after a manual search from reference lists. RESULTS: Four human studies and three animal studies are considered in this review. Postmortem MRI quality can be affected by storage temperature, repeated freezing and thawing and fixation. Provided there was an adequate, but above-freezing storage temperature, postmortem changes in fresh cadavers did not appear to affect the MR image quality of MSK structures up to 14 days after death. Image contrast, signal intensities, and relaxation times are temperature-dependent, regardless of whether the specimen was fresh or postmortem for up to 7 days. Bad image quality can occur owing to accelerated autolysis. Freezing and thawing did not affect image quality, unless repeated too often, or whenever a heating pad was used to speed up the thawing process. Conventional formalin-based fixation leads to swelling of soft tissue and fluid accumulation in joints, and therefore to deteriorated images, with image quality just sufficient to visualize gross anatomy. CONCLUSION: Various factors were identified that affect postmortem MR image quality of MSK structures. Postmortem MR image quality was good, except for images of the fixated specimen. Freezing is the preferred method of conservation for specimens that are to be subjected to postmortem MRI.

The influence of impact velocity on bullet trajectory deflection through ballistic gelatine.

This paper presents the results of a study on bullet trajectory deflection, for 9 mm Luger Full Metal Jacket Round Nose (FMJ-RN) bullets fired through 23-24 cm of ballistic gelatine. The bullets were fired at different velocities. Impact velocity, energy transfer and bullet trajectory deflection after gelatine perforation were measured and calculated. As was expected, energy transfer to the gelatine blocks generally increased with increasing impact velocity, indicating an altering bullet/gelatine interaction with altering velocity. This alteration did not result in a discernible alteration of bullet trajectory deflection. Deflection angles fell between 5.7° and 7.4° for 136 of the 140 fired shots, with four outliers below 5.7°.

Absence of the spleen(s) in conjoined twins: a diagnostic clue of laterality defects? Radiological study of historical specimens.

BACKGROUND: Laterality defects are quite common in thoracoileopagus and parapagus dicephalus but rare in other types of conjoined twins. OBJECTIVE: To present the presumed laterality defects in cephalothoracoileopagus and prosopothoracoileopagus conjoined twins, based on the unilateral or bilateral absence or duplication of the spleen. MATERIALS AND METHODS: Three human anatomical specimens of craniothoracoileopagus (CTIP) twins and one of prosopothoracoileopagus (PTIP) twins were investigated. The specimens were part of the Museum Vrolik collection of the Department of Anatomy and Embryology of the Academic Medical Centre, University of Amsterdam, The Netherlands. The specimens were taken out of their jars and scanned with multidetector CT and volumetric T2-weighted MRI at 1.5 T. RESULTS: The internal anatomy of the specimens was largely in accordance with previous reports. However, there was no recognisable spleen in the right twin in one CTIP specimen, in the left twin in one other CTIP specimen, and in both twins in the third CTIP specimen and in the PTIP specimen. CONCLUSION: Asplenia and polysplenia are considered reliable indicators of right and left isomerism, respectively. However, three of our four specimens had laterality patterns that did not correspond with those previously reported. Since no other parameters of laterality defects could be verified in these specimens, we concluded that asplenia was unlikely to be caused by laterality defects.

The distal radial physis: Exploring normal anatomy on MRI enables interpretation of stress related changes in young gymnasts.

Rationale: Explore the MRI-appearance of the healthy distal radial physis and the distribution of stress-related changes in physeal thickness in young gymnasts to aid in the understanding of the pathophysiological process of stress-related physeal injury. Methods: Symptomatic gymnasts with clinically suspected overuse injury of the distal radial physis and age and gender-matched asymptomatic gymnasts and healthy non-gymnasts underwent an MRI-scan of the wrist. A cartilage-specific sequence was used to obtain three-dimensional reconstructions of the distal radial physis. Heat maps and line charts of these reconstructions visualised distribution of physeal thickness per study group and were used to explore differences between study groups. Symptomatic gymnasts displaying the most profound physeal widening (n = 10) were analysed separately. Results: Twenty-seven symptomatic - (skeletal age 12.9 ± 1.5 years), 16 asymptomatic - (skeletal age 12.8 ± 1.9 years) and 23 non-gymnasts (skeletal age 13.6 ± 1.9 years) were included for analysis. Physes of healthy non-gymnasts had a thin centre and increased in thickness towards the borders. Gymnasts demonstrated an increase in thickness of the entire physeal surface. In symptomatic gymnasts increase in physeal thickness was most prominent at the volar side when compared to asymptomatic gymnasts and non-gymnasts. Conclusion: The healthy distal radial physis is characterised by a thin centre surrounded by thicker borders. Stress applied to the wrist during gymnastics causes an overall increase in physeal thickness. Profound thickness increase is present at the volar side of the physis mainly in symptomatic gymnasts. These results can help unravel the pathophysiological mechanism of stress-related physeal injury in gymnasts and aid early injury identification.

The Pronephros; a Fresh Perspective.

Contemporary papers and book chapters on nephrology open with the assumption that human kidney development passes through three morphological stages: pronephros, mesonephros, and metanephros. Current knowledge of the human pronephros, however, appears to be based on only a hand full of human specimens. The ongoing use of variations in the definition of a pronephros hampers the interpretation of study results. Because of the increased interest in the anamniote pronephros as a genetic model for kidney organogenesis we aimed to provide an overview of the literature concerning kidney development and to clarify the existence of a pronephros in human embryos. We performed an extensive literature survey regarding vertebrate renal morphology and we investigated histological sections of human embryos between 2 and 8 weeks of development. To facilitate better understanding of the literature about kidney development, a referenced glossary with short definitions was composed. The most striking difference between pronephros versus meso- and metanephros is found in nephron architecture. The pronephros consists exclusively of non-integrated nephrons with external glomeruli, whereas meso- and metanephros are composed of integrated nephrons with internal glomeruli. Animals whose embryos have comparatively little yolk at their disposal and hence have a free-swimming larval stage do develop a pronephros that is dedicated to survival in aquatic environments. Species in which embryos do not have a free-swimming larval stage have embryos that are supplied with a large amount of yolk or that develop within the body of the parent. In those species the pronephros is usually absent, incompletely developed, and apparently functionless. Non-integrated nephrons were not identified in histological sections of human embryos. Therefore, we conclude that a true pronephros is not detectable in human embryos although the most cranial part of the amniote excretory organ is often confusingly referred to as pronephros. The term pronephros should be avoided in amniotes unless all elements for a functional pronephros are undeniably present.

Estimation of the postmortem interval based on the human decomposition process.

Postmortem interval (PMI) estimations which are used as evidence in Dutch court are sometimes solely based on the experience of the forensic physician without a scientific background. The aim of this study was to investigate the degree of agreement between forensic physicians and their PMI estimations. Fifteen cases were selected from 1534 external postmortem investigations. Photographs of the human remains were presented to 89 forensic physicians in the Netherlands with the instruction to estimate the PMI based on their experience, knowing the remains were found indoors and in which season. Data analysis was conducted by using an interclass correlation (ICC) and Spearman's rank correlation coefficient. This study shows a poor correlation (ICC = 0.254) between the PMI estimations of the 89 forensic physicians. It is therefore not advised that PMI estimations based on experience be used as evidence in court.

Dutch population specific sex estimation formulae using the proximal femur.

Sex estimation techniques are frequently applied in forensic anthropological analyses of unidentified human skeletal remains. While morphological sex estimation methods are able to endure population differences, the classification accuracy of metric sex estimation methods are population-specific. No metric sex estimation method currently exists for the Dutch population. The purpose of this study is to create Dutch population specific sex estimation formulae by means of osteometric analyses of the proximal femur. Since the Netherlands lacks a representative contemporary skeletal reference population, 2D plane reconstructions, derived from clinical computed tomography (CT) data, were used as an alternative source for a representative reference sample. The first part of this study assesses the intra- and inter-observer error, or reliability, of twelve measurements of the proximal femur. The technical error of measurement (TEM) and relative TEM (%TEM) were calculated using 26 dry adult femora. In addition, the agreement, or accuracy, between the dry bone and CT-based measurements was determined by percent agreement. Only reliable and accurate measurements were retained for the logistic regression sex estimation formulae; a training set (n=86) was used to create the models while an independent testing set (n=28) was used to validate the models. Due to high levels of multicollinearity, only single variable models were created. Cross-validated classification accuracies ranged from 86% to 92%. The high cross-validated classification accuracies indicate that the developed formulae can contribute to the biological profile and specifically in sex estimation of unidentified human skeletal remains in the Netherlands. Furthermore, the results indicate that clinical CT data can be a valuable alternative source of data when representative skeletal collections are unavailable.

Evaluation of collimated polarized light imaging for real-time intraoperative selective nerve identification in the human hand.

Intraoperative peripheral nerve lesions are common complications due to misidentification and limitations of surgical nerve identification. This study validates a real-time non-invasive intraoperative method of nerve identification. Long working distance collimated polarized light imaging (CPLi) was used to identify peripheral radial nerve branches in a human cadaver hand by their nerve specific anisotropic optical reflection. Seven ex situ and six in situ samples were examined for nerves, resulting after histological validation, in a 100% positive correct score (CPLi) versus 77% (surgeon). Nerves were visible during a clinical in vivo observation using CPLi. Therefore CPLi is a promising technique for intraoperative nerve identification.

Radiological imaging of teratological fetuses: what can we learn?

OBJECTIVES: To determine the advantages of radiological imaging of a collection of full-term teratological fetuses in order to increase their scientific and educational value. BACKGROUND : Anatomical museums around the world exhibit full-term teratological fetuses. Unfortunately, these museums are regularly considered as "morbid cabinets". Detailed dysmorphological information concerning the exhibited specimens is often lacking. Moreover, fetuses with severe and complex congenital anomalies are frequently diagnosed incompletely, incorrectly or not at all. METHODS: In order to verify diagnoses and to enrich their educational and scientific value, we imaged 41 out of the 72 teratological specimens present in the collection of our Anatomy and Pathology Museum in Nijmegen (The Netherlands) by means of magnetic resonance imaging (MRI) and computed tomography (CT). Additionally, contemporary dysmorphological insights and 3D models are implemented in the teratology education of medical students and residents. CONCLUSIONS: Full-term teratological fetuses have become increasingly rare and deserve a prominent place in every anatomical museum; they are suitable for contemporary teratological research and education. Modern radiological techniques markedly enhance their scientific and didactic value. TEACHING POINTS: • To explore the scientific and educational potential of institutionalised teratological collections • To understand the additional value of radiological imaging in diagnosing teratological specimens • To learn about the specific settings of MRI parameters when scanning fixed specimens • To recognise specific internal dysmorphology in several congenital anomalies.

Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene.

Caudal regression syndrome (CRS) is a rare congenital disorder characterized by developmental abnormalities of caudal spinal segments. To date, the etiology of CRS is unclear; sporadic cases are strongly associated with maternal diabetes, while familiar recurrence is infrequent. We describe in detail the prenatal clinical and sonographic findings of a recently described hereditary caudal regression syndrome, in four fetuses reported to be homozygous for a mutation in the T (brachyury) gene. The syndrome occurred in three consanguineous, but unrelated families, originating from the same geographical area. All affected fetuses had persistence of the notochord in association with abnormal vertebral ossification, sacral agenesis, and bilateral clubfoot. These findings suggest that, in case of prenatal diagnosis of sacral agenesis, an advanced ultrasound examination should assess the vertebral ossification and the rare persistence of the notochord, in order to rule the involvement of the T gene.

Historical aspects of the study of malformations in The Netherlands.

The collection of malformed ("teratological") specimens of man and other mammals of Gerardus Vrolik (1775-1859) and his son Willem Vrolik (1801-1863), dating from the beginning of the 19th century, continues to function as a central part of the Department of Anatomy and Embryology in the Academic Medical Center at the University of Amsterdam. Recently, many specimens in the collection were reexamined, using radiographic, CT scan, and MRI methods. In order to provide background information concerning Dutch teratological research and anatomical cabinets, some aspects of the history of Dutch morphology during the 17th-19th centuries are briefly described in this paper. Special attention is paid to the scientific work and cabinet of Frederik Ruijsch (1638-1731), who sold this cabinet to Czar Peter the Great; Bernard Siegfried Albinus (1697-1770); Wouter van Doeveren (1733-1783), Andreas Bonn (1738-1818), and Sebald Justinus Brugmans (1763-1819), who sold or donated parts of their collections of malformed specimens to Leiden University; Petrus Camper (1722-1789) and Jan Bleuland (1756-1838), whose collections are still in the Department of Anatomy at Groningen University and the Departments of Anatomy and Pathology of Utrecht University; and Gerard and Willem Vrolik.

Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. IV: closure defects of the neural tube.

The Museum Vrolik collection of the Department of Anatomy and Embryology of the University of Amsterdam, founded by Gerardus Vrolik (1775-1859) and his son Willem Vrolik (1801-1863), consists of more than 5,000 specimens of human and animal anatomy, embryology, pathology, and congenital anomalies. Recently, the collection of congenital anomalies, comprising 360 specimens, was recatalogued and redescribed according to contemporary morphogenetic opinions. The original descriptions, as far as preserved, were compared with the clinical and additional findings. Based on the classification by closure site, proposed by Van Allen et al. [1993], the following closure defects of the neural tube were diagnosed in 107 specimens: craniorachischisis, holoacranium with partial rachischisis, faciocranioschisis, holoacranium, meroacranium, occipital cranioschisis, frontal encephalocele, parietal encephalocele, occipital encephalocele, occipital encephalocele with rachischisis, occipito-cervical encephalocele, thoracolumbar spina bifida, lumbosacral spina bifida, occult sacral dysraphism, and sacrococcygeal dysgenesis. Furthermore, we diagnosed three conditions that did not appear in the aforementioned classification; we named these conditions craniorachischisis totalis, occipital craniorachischisis, and thoracolumbosacral spina bifida. The results of our study are in line with the assumption that particularly occipito-cervical neural tube defects are associated with concomitant anomalies and are more common in females. The results support the idea of multisite closure of the human neural tube.

Smith-Lemli-Opitz syndrome diagnosed in a 130-year-old anatomical specimen.

The Museum Vrolik collection of human anatomy comprises 360 recently re-described specimens with congenital anomalies. The external findings in one of these specimens, originally described by Willem Vrolik (1801-1863) 130 years ago, were suggestive of Smith-Lemli-Opitz (SLO) syndrome. Cholesterol synthesis was analyzed in skin biopsies, obtained from the suspected SLO specimen and a control specimen. The cholesterol levels in the SLO specimen and in the control specimen were in the proportion of 1 to 45. This confirms the diagnosis in this specimen which, to our knowledge, represents the oldest known case of SLO syndrome.

Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. I: Syndromes with multiple congenital anomalies.

The Museum Vrolik collection of the Department of Anatomy and Embryology of the University of Amsterdam, founded by Gerardus Vrolik (1775-1859) and his son Willem Vrolik (1801-1863), consists of more than 5,000 thousand specimens of human and animal anatomy, embryology, pathology, and congenital anomalies. Recently, the collection of congenital anomalies was recatalogued and redescribed according to contempory syndromological views. The original descriptions, as far as preserved, were compared with the clinical and radiographical findings. In 13 specimens the following multiple congenital anomalies (MCA) syndromes were diagnosed: acrofacial dysostosis, Apert syndrome, Brachmann-De Lange syndrome, ichthyosis congenita gravis, Jarcho-Levin syndrome, Meckel syndrome, oro-facio-digital syndrome type IV, Roberts syndrome, Smith-Lemli-Opitz syndrome, Treacher Collins syndrome, and trisomy 13. It appeared that the founders of the museum studied and described several of these syndromes many years before they became established as such. In some specimens a reliable diagnosis is still pending. The use of additional diagnostical techniques, such as MRI, CT scanning, and fluorescence in situ hybridization, in these specimens is currently being investigated.