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M H Kaufman

Publications and source records attributed to M H Kaufman.

At least 19 recordsLinked to original sources
PubMed2001

Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye.

We describe lens defects in heterozygous small eye mice, and autonomous deficiencies of Pax6(+/-) cells in the developing lens of Pax6(+/+) <--> Pax6(+/-) chimeras. Two separate defects of the lens were identified by analyzing the distribution of heterozygous cells in chimeras: Pax6(+/-) cells are less readily incorporated into the lens placode than wild type, and those that are incorporated into the lens are not maintained efficiently in the proliferating lens epithelium. The lens of chimeric eyes is, therefore, predominantly wild type from embryonic day 16.5 onwards, whereas heterozygous cells contribute normally to all other eye tissues. Eye size and defects of the iris and cornea are corrected in fetal and adult chimeras with up to 80% mutant cells. Therefore, these aspects of the phenotype may be secondary consequences of primary defects in the lens, which has clinical relevance for the human aniridia (PAX6(+/-)) phenotype.

Animals↗
PubMed2001

Frederick Knox, younger brother and assistant of Dr Robert Knox: his contribution to "Knox's Catalogues".

Analysis of the material written in the two manuscript volumes known as the "Old" and "New" Knox Catalogues has revealed that most of their contents are in the hand of Frederick Knox, younger brother of Dr Robert Knox. Frederick was employed by Dr Knox as his research assistant, and prepared detailed lists of the items in his brother's museum collection. He also dissected and prepared human and non-human specimens, many of which were described by Dr Knox in his numerous publications. As relatively little is known about Frederick Knox, this seemed a timely opportunity to evaluate his contribution to Knox's anatomy class in the extra-mural school. When in due course Dr Knox's success as a teacher of anatomy gradually declined, he decided to leave Edinburgh to pursue his career in London. It was at about this time that his brother Frederick also decided to leave Edinburgh to establish a new career for himself in the Antipodes. The present whereabouts of the majority of Knox's enormous teaching collection of anatomical preparations and his comparative anatomy collection are unknown, and suggestions are made as to their possible whereabouts.

Anatomy↗
PubMed2001

Clinical case histories and sketches of gun-shot injuries from the Carlist War.

The Anatomical Museum of the University of Edinburgh contains a substantial collection of human osteological preparations that display the effects of musket-ball and sabre injuries. Most of these formerly belonged to the Museum Collection associated with the class of Military Surgery. This collection had principally been amassed by Sir George Ballingall to illustrate his lectures when he was Regius Professor of Military Surgery in the University of Edinburgh from 1822-55. About half of the osteological preparations in his collection had been purchased from Dr Rutherford Alcock in 1843. Alcock had collected them when he was Deputy Inspector General of Hospitals to the British Auxiliary Legion in Spain during the Carlist War of 1835-37. Just under 60% of the osteological preparations purchased from Alcock still remain on display in the Anatomy Museum of the University of Edinburgh. Previously, the only information on these items was that published in Ballingall's Catalogue of the Museum attached to the Class of Military Surgery, published in 1855. Very recently, twelve volumes of manuscript material, consisting principally of clinical case records prepared by Alcock and his medical officers have been located in the Special Collections Section of Edinburgh University Library. This has now enabled the full clinical case records of the majority of the individuals whose osteological preparations are still available in the collection to be studied. This manuscript material provides a unique record of the treatment of the sick and wounded men in this campaign. It also allows the clinical records of men wounded by musket-ball to be studied with their associated bony lesions.

Fractures, Bone↗
PubMed2000

Howison, the Cramond Murderer, and last person to be hanged and dissected.

An articulated skeleton in Edinburgh University's Anatomy Museum of "Howison, The Cramond Murderer", shares a show-case with the articulated skeleton of "William Burke, The Murderer". While the murderous activities of William Burke are well known, because of his association and activities with William Hare, and because they sold the bodies of their victims to Dr Robert Knox, the anatomist, little these days is recalled of Howison. He was executed for the murder of a woman in Cramond in December 1831, and was hanged on 21st January 1832. The case is important because he was the last individual executed before the implementation of the Anatomy Act of 1832. Accordingly, under the conditions of the previous Act, of 1752, entitled "An Act for better preventing the horrid Crime of Murder", his body had to be handed across to the surgeons to be "dissected and anatomized", before it could be buried.

Anatomy↗
PubMed2000

Excision of a remarkable tumour of the upper jaw in 1834 by Robert Liston.

A series of pre-operative casts of the head, one of plaster of Paris and the other of wax, have recently been discovered in the Department of Anatomy, Edinburgh, of a patient with an immense tumour of the left maxillary antrum which produced an enormous degree of facial distortion. These casts complement a series of engravings published in the contemporary literature. This lady's tumour was successfully excised by Robert Liston in 1834 in the Royal Infirmary of Edinburgh, only a month before he left Edinburgh for London. The tumour was believed to be benign, and was removed without the benefit of anaesthesia. The patient returned the following summer to have a gold palate fitted, and while her voice was initially indistinct, it subsequently recovered.

History, 19th Century↗
PubMed2000

Studies of the mechanism of amniotic sac puncture-induced limb abnormalities in mice.

The principal advantage of chorionic villus sampling (cvs) over amniocentesis for the determination of the genetic constitution of the embryo is that it may be undertaken earlier in pregnancy. If carried out too early in pregnancy, it has the risk of inducing craniofacial and limb abnormalities, a condition termed the oromandibulofacial limb hypogenesis (OMFL) syndrome in genetically normal infants. It is believed that the defects observed have a vascular origin, possibly due to anoxia of tissues due to fetal blood loss or thrombus formation at the site of biopsy with distal embolization. We believe that this does not adequately explain the findings from the experimental animal literature involving amniotic sac puncture (ASP). Based on these experimental findings, we have hypothesised that (i) the defects observed following cvs may result from the consequences of oligohydramnios following the inadvertent puncturing of the amniotic sac during this procedure, and (ii) that cleft palate and the postural limb defects observed (e.g., clubfoot and clubhand) are secondary to embryonic/fetal compression. Our experimental studies shed new light on the mechanism of induction of the limb defects seen, but particularly syndactyly. Evidence of hypoperfusion of the peripheral part of the developing limb bud is observed, which interferes with apoptosis that occurs in the digital interzones, or induces an abnormal degree of cellular proliferation and/or tissue regeneration in these sites, possibly because of over-expression of critical genes involved in limb pattern specification. Cleft palate, tail abnormalities and abnormalities of sternal ossification are also observed in our model.

Amniocentesis↗
PubMed2000

The Penman case: a re-evaluation.

One of the most remarkable operations carried out in the Royal Infirmary of Edinburgh during the early decades of the 19th century was the surgical excision of an enormous tumour, believed to be an osteosarcoma, of the lower jaw of Robert Penman, that produced severe disfigurement of his face. James Syme, then in his late twenties, was invited to see the patient by Professor Ballingall and Dr John Abercrombie and, in July 1828, he operated, without the benefit of an anaesthetic, to completely remove the tumour. The patient not only survived the operation, but also remained in excellent health for many years afterwards. He emigrated to the United States, but occasionally returned home to Scotland. In 1855, Lord Lister, who noted that his "deformity" had been wonderfully masked by a bushy beard, saw him. This case is re-evaluated in the light of information from the archives in the Royal College of Surgeons of Edinburgh and from the contemporary and more recent literature.

Face↗
PubMed1999

Observations on some of the plates used to illustrate the Lymphatics section of Andrew Fyfe's Compendium of the Anatomy of the Human Body, Published in 1800.

An engraving displaying A General View of the Absorbent System was used as one of many plates illustrating the Lymphatics section of Andrew Fyfe's Compendium of the Anatomy of the Human Body published in 1800. It is a scaled-down version of a life-size engraving displayed in the museum of the Department of Anatomy at the University of Edinburgh, and is based on a cadaver specially dissected and injected with mercury in 1788 by Alexander Monro secundus, probably with the assistance of Fyfe, who was his 'dissector'. Only recently has the relationship between these two engravings been established, and the Figure Legend in Fyfe's Compendium now provides the missing key to the features illustrated in the life-size engraving. The source and very variable quality of some of Fyfe's other plates, both in the Lymphatics section and elsewhere in the book, are discussed.

Anatomy, Artistic↗
PubMed1999

Phrenology - confrontation between Spurzheim and Gordon - 1816.

All the contemporary evidence suggests that Spurzheim was an extremely personable individual. Evidence from his correspondence suggests that his lectures and demonstrations were very popular and well attended, and geared specifically to the level of knowledge and understanding of his audience. He gave afternoon lectures that were popular with ladies and idle people, and more serious lectures in the evenings to professional and scientific gentlemen. He was less interested in the neuroanatomical basis of the science, as developed by Gall, being more interested in its general applicability in helping to improve the lot of the people. He gave his audiences what they wanted to hear. The scientific basis of the subject was plausible, and was not readily testable by the scientific methods available at the time.

Anatomy↗
PubMed1998

Surgical outcomes in pure frontal lobe epilepsy and foci that mimic them.

In this study we examined 37 subjects with a diagnosis of intractable frontal lobe epilepsy (FLE) based on non-invasive pre-surgical evaluation. Twenty-six underwent chronic intracranial ictal recordings (CIR) with video monitoring; 20 of these went on to surgical resection. Eleven underwent surgery without CIR. Retrospectively, we determined that 19 had pure FLE, 12 had frontal plus extrafrontal epileptogenic zones, and six others did not have FLE. We analysed the whole group and individual categories to evaluate the determinants of surgical outcome. Sixty percent of the pure frontal group is seizure free with all having > or = 75% reduction. The frontal-plus group had only 10% seizure free with 70% having > or = 75% reduction. Being in the pure frontal group was associated with better outcomes than the 'frontal-plus' group (P < 0.05; chi-square). Subjects with FSIQ > or = 85, focal pathologies and 18FDG-PET scans which were normal or had focal abnormalities (P < or = 0.05, all, chi-square) were more likely to have excellent outcomes. MRI abnormalities, surface EEG, and location and size of resection were not predictive of surgical outcomes. Rasmussen's encephalitis, incomplete surgical strategies and bilateral foci were apparent in those with poor outcomes, and surgical size predicted post-operative deficits (chi-square; P < 0.001). We conclude that careful, hypothesis-driven implants and operating procedures can result in good surgical outcomes for frontal lobe epilepsy subjects even when lesions are not apparent on routine neuroimaging.

Adolescent↗
PubMed1998

An internet-accessible database of mouse developmental anatomy based on a systematic nomenclature.

This paper reports an internet-accessible database of mouse developmental anatomy (DMDA) that currently holds a hierarchy of the names and synonyms of the tissues in the first 22 Theiler stages of development (E1-E13.5), together with other appropriate information. The purposes of the database are to provide, first, a nomenclature for analyzing normal and mutant mouse anatomy, and second a language for inputting, storing and querying gene-expression and other spatially organized data. DMDA currently contains some 6900 named and staged tissues (e.g. 360 and 1161 tissues in Theiler stage (TS) 14 (E9) and TS22 (E13.5) embryos). DMDA will be extended to include further lineage and other data when it becomes available. The database can be interactively accessed over the internet using either a Java or a non-Java WWW browser at http://genex.hgu.mrc.ac.uk/.

Animals↗
PubMed1998

Analysis of interdigital spaces during mouse limb development at intervals following amniotic sac puncture.

A spectrum of limb abnormalities ranging from adactyly, syndactyly, acrosyndactyly to nail hypoplasia was encountered in mouse embryos subjected to amniotic sac puncture at the corresponding gestational stage when human chorionic villus sampling (cvs) would normally be performed clinically. Previous skeletal studies revealed that, apart from the occasional incidence of fusion of 2 distal phalanges, syndactyly usually only affected the soft tissues within the interdigital spaces. A similar situation was also observed in cases of adactyly; while the skeletal elements of the digits were present, the soft tissues in the interdigital spaces failed to separate. A transient period of bradycardia is induced, possibly secondary to compression of the embryo by the extraembryonic membranes and uterine muscles following amniotic sac puncture. These factors, we believe, produce temporary hypoxia/ischaemia of the distal extremities, and may lead to the modification of the interdigital mesenchymal tissues within the autopods. In order to investigate the mechanism(s) underlying soft tissue syndactyly, limbs recovered at 0.5, 4, 8, 12, 24, or 36 h following amniotic sac puncture (ASP) were examined histologically. Vascular disruption in the form of localised areas of haemorrhage, vascular dilatation and congestion and the presence of fluid-filled cavities occurred in relation to the marginal vein and vascular plexus in the interdigital spaces. It is hypothesised that this interfered with the normal equilibrium of the preset programs of mitosis/cell death and apoptosis within the mesenchymal cells of the interdigital spaces. Apoptosis in these areas was inhibited in the majority of the experimental limbs analysed 4 h after ASP. Instead of undergoing necrosis/apoptosis, increased mitotic activity was usually observed from 8 h following ASP at the sites where apoptosis would normally be expected to be seen. The aberrant fate of the interdigital mesenchyme following ASP and the underlying mechanism(s) involved are discussed, as is the critical importance of an adequate vascular supply to the interdigital spaces during the morphogenesis of the autopod. We believe that this report contributes to understanding the mechanism(s) which lead to syndactyly following ASP, and the limb defects occasionally seen following cvs when this is undertaken during early gestation.

Animals↗
PubMed1998

Computer-generated three-dimensional reconstructions of serially sectioned mouse embryos.

We have been involved with a group of computer scientists and anatomists in the development of computer-based methodologies that not only combine the advantages of scanning electron microscopy and conventional histology, but provide the additional dimension of tissue recognition. The latter is achieved by the appropriate labelling of tissues and structures by delineation or 'painting'. Individually segmented anatomically defined tissues can be highlighted in a particular colour and viewed either in isolation or in combination with other appropriately labelled tissues and organs. Tissues can be shown in any orientation either as a transparent overlay on computer-generated histological sections or as 3-D images without the histological background. An additional feature of the system is that computer graphics technology combined with 3-D glasses now also allows the viewer to see the object under analysis in stereo. This facility has been found to be particularly helpful in drawing attention to topological relationships that had not previously been readily noted. As the mouse is now the mammalian model of choice in many areas of developmental research, it is of critical importance that a basic level of skill is available in the research community in the interpretation of serially sectioned material, for example, for the rapidly expanding field in which gene expression studies play a significant role. It is equally important that there is an understanding of the dynamic changes that occur in relation to the differentiation of the various organ systems seen in these early stages of development. What we emphasise here is the additional information that it is possible to gain from the use of this tool which, in our view, could not readily have been gained from the analysis of scanning electron micrographs or by studying conventional serial histological sections of similar stages of mouse embryonic development. The methodology has been developed as part of a large project to prepare a database of mouse developmental anatomy covering all stages from fertilisation to birth in order to allow the accurate spatial mapping of gene expression and cell lineage data onto the digital Atlas of normal mouse development. In this paper we show how this digital anatomical Atlas also represents a valuable teaching aid and research tool in anatomy.

Anatomy, Cross-Sectional↗
PubMed1998

Influence of anaesthetic agent on limb abnormalities observed following amniotic sac puncture.

In all of our previous studies into the effect of amniotic sac puncture (ASP) carried out on day 13 of pregnancy in mice, we have used intraperitoneal Avertin (tribromoethanol) as the general anaesthetic. In the present study, we used an inhalational anaesthetic (a mixture of halothane, oxygen and nitrous oxide in a ratio of 2:3:3). The principal difference between these two regimens is that even under optimal post-operative conditions when Avertin is used it can take between 45 and 90 min before complete recovery is achieved; when the inhalational anaesthetic is used, complete recovery is usually achieved within about 3-5 min. Because the experimental conditions were otherwise identical, this allowed the influence of the anaesthetic employed during ASP and the incidence of abnormalities induced on survival rate to day 19 of pregnancy to be studied. The survival rate was slightly higher when the inhalational anaesthetic was used, as was the incidence of limb abnormalities, although the overall incidence of gross abnormalities involving the palate, limbs and tail was not significantly different. The most marked difference, however, was in the incidence of syndactyly, which was significantly lower when the inhalational compared to the intraperitoneal anaesthetic was used: 26.6% v. 70.2% of the abnormal limbs analysed. A possible hypothesis is presented to explain this difference.

Amnion↗
PubMed1997

Genetic background effects on dental and other craniofacial abnormalities in homozygous small eye (Pax6Sey/Pax6Sey) mice.

Small eye (Pax6Sey) is a semi-dominant mutation affecting development of the eyes, brain and nasal structures. The mutant phenotype arises from defects within the Pax6 gene and several mutant alleles have been identified. A previous study reported that Pax6Sey/Pax6Sey homozygotes, in a random-bred stock, had a median cartilaginous rod-like structure in the nasal region and 80% had supernumerary upper incisor teeth. In this study we show that supernumerary upper incisor teeth and a previously unreported nasal capsule-derived cartilaginous 'spur' occur in compound heterozygous Pax6Sey-Neu/Pax6Sey and homozygous Pax6Sey/Pax6Sey fetuses from several strains of mice. The frequencies of the abnormal phenotypes were not related to allele type but showed variable penetrance, which was dependent on genetic background. The median nasal cartilaginous rod-like structure was present in all homozygous small eye fetuses. The Pax6Sey/Pax6Sey homozygote may provide insight into the complex gene interactions involved in eye, nasal and craniofacial morphogenesis.

Animals↗
PubMed1997

Transient bradycardia in a mouse model for the oromandibulofacial limb hypogenesis syndrome following chorionic villus sampling.

Amniotic sac puncture carried out on day 13 mouse embryos induces a high incidence of craniofacial and limb abnormalities that resemble the anomalies seen in the oromandibulofacial limb hypogenesis syndrome occasionally encountered following chorionic villus sampling carried out during early human pregnancy. It has been hypothesized that this syndrome probably has a vascular basis, possibly due to hypotension and hypoperfusion of tissues secondary to placental trauma, though no detailed aetiology has so far been described. We have determined embryonic heart rates in control embryos, in embryos at intervals following anaesthesia, and following amniotic sac puncture. An increased duration of bradycardia is seen following this procedure which is not observed in anaesthetic-only controls and in embryos in the contralateral (non-operated) uterine horns. We discuss why the incidence of oromandibulofacial limb hypogenesis syndrome is low following chorionic villus sampling, and propose a possible aetiology for the limb abnormalities seen in this condition.

Abnormalities, Multiple↗