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PubMedDate not supplied

Gallery of medical devices.

This article provides an overview of the multitude of medical devices used in patients from head to toe. Simple line drawings show a wide assortment of medical devices. These drawings and the accompanying short descriptions are to be used for quick reference to identify some of the more common medical devices that are certain to appear on everyday radiographs. There is an extensive bibliography for the reader to obtain more detailed information about a particular device or medical apparatus. Knowing the specific name of a device is nearly impossible and is really not necessary, in particular, the eponyms attached to all manner of orthopedic apparatus. Many device names have evolved from their original meaning. What is important is the device's function and the recognition of its presence, as well as an understanding of its use and potential complications.

Bone and Bones↗
PubMedDate not supplied

Clinical terminology: anxiety and confusion amongst families undergoing genetic counseling.

Genetic counseling is a rapidly expanding, but highly demanding, domain of doctor-patient communication. This paper reports results from an ethnographic study of families (n = 30) attending a genetic counseling clinic in Northern England. We suggest that the language used in this particular specialty is often confusing and misunderstood by the families involved. We found that unfamiliar terms may also conjure up also conjure up alarming images. It is important therefore, that physicians, and in particular geneticists, try to use simple, understandable language, and give clear explanations for unfamiliar terms that cannot be avoided. The careful choice of words, and detailed explanation, not only reduces the risks of "labelling" and stigmatization, but may also prevent the unnecessary anxiety experienced by patients when they hear unfamiliar medical terms, such as the eponyms frequently employed by geneticists when giving a diagnosis.

Anxiety↗
PubMed2002

Abdominal wall hernias: a cross-sectional pictorial review.

The classification of abdominal wall hernias is often made difficult by confusing eponymous and anatomic nomenclature. In this article, we review the anatomy that defines the various types of hernias. The specific cross-sectional radiologic features required to correctly identify each type are then emphasized. The appropriate clinical context and the merits of the various imaging techniques available for the investigation of abdominal wall hernias are also discussed.

Abdominal Wall↗
PubMed2001

Julius Hallervorden's wartime activities: implications for science under dictatorship.

The eponym Hallervorden-Spatz syndrome recalls Julius Hallervorden's and Hugo Spatz's original description of this pediatric neurodegenerative disorder. Julius Hallervorden's important contribution to the practice of neuropathology over a long career cannot be underestimated. However, his work as a pathologist during the Third Reich put him in close proximity with the implementation of biologic solutions (i.e., euthanasia) targeting those individuals with significant intellectual or physical disabilities in chronic-care facilities. The Nazi program of active euthanasia provided a scientific opportunity to gain quick access to pathologic materials. This opportunity was recognized and used by Hallervorden to achieve personal scientific objectives and research efforts. These efforts resulted in a number of postwar scientific publications using materials obtained through the euthanasia program. The participation of distinguished academic physicians in such a program provides a cautionary tale of the potential results of ethical compromise and the effects of the abrogation of personal autonomy in the setting of a totalitarian dictatorship.

Autopsy↗
PubMed1992

Mapping of the versican proteoglycan gene (CSPG2) to the long arm of human chromosome 5 (5q12-5q14).

Versican is a major chondroitin sulfate proteoglycan of vascularized connective tissues whose eponym reflects its functional versatility in macromolecular affinity and interactions. In this report we have localized the versican gene (CSPG2) to the long arm of human chromosome 5 by utilizing a combination of somatic cell hybrids, Southern blotting, polymerase chain reaction, and chromosomal in situ hybridization. The proteoglycan gene segregated concordantly with hybrid cell lines containing the long arm of chromosome 5, comprising the 5q12-q14 band regions. To refine this locus further, we screened a chromosome 5-specific library and isolated several genomic clones encoding a portion of the 5' end of versican. One of these genomic clones was used as a probe for in situ hybridization of human chromosome metaphases. The results corroborated the data obtained using somatic cell hybrids and further refined the assignment of the versican gene to the narrow band region of 5q12-5q14, with the primary site likely to be 5q13.2. The availability of novel genomic clones and the mapping data presented here will make possible the identification of any defect genetically linked to this proteoglycan gene.

Amino Acid Sequence↗
PubMed2002

Aspects of the history of osteogenesis imperfecta (Vrolik's syndrome).

Osteogenesis imperfecta (OI) or Vrolik's syndrome is a heterogeneous group of inherited conditions arising from a variety of biochemical and morphological collagen defects. It was Willem Vrolik, Professor of Anatomy, Pathological Anatomy and Zoology at the Athenaeum Illustre (University of Amsterdam), who described in his Handbook of Pathological Anatomy (1842-1844) and Tabulae ad illustrandam embryogenesin hominis et mammalium, naturalem tam abnormem (1844-1849) a newborn infant with numerous fractures and hydrocephalus. In the Tabulae, having both Latin and Dutch texts, in the Latin text Vrolik used in the heading of Plate 91 the term Osteogenesis imperfecta (in Dutch: gebrekkige beenwording). Vrolik also mentioned that the infant lived three days and that both the parents were suffering from lues universalis at the time of birth. On our reexamination, the whole skeleton appeared poorly mineralised. The fairly large skull exhibited a broad and high forehead, large fontanels, frontal and temporal bossing, shallow orbits, and a protruding occiput. The calvaria consisted of many Wormian bones. The tubular bones, although of normal length and only slightly curved, were very thin, as were the ribs. All the skeletal structures showed one or more fractures and many fractures showed callus formation. In 1998 we re-diagnosed the condition of the specimen as osteogenesis imperfecta type II. Willem Vrolik was one of the first to realize that many skeletal dysplasias were not the result of a postnatal acquired disease, such as "rickets" or "osteomalacia" as many of his contemporaries believed. He thought that it might be due to insufficient intrinsic "generative energy." He substantiated this by stating that in this specimen a primary impairment of ossification is present and not a secondary degeneration. The descriptions given by Willem Vrolik in some of the specimens generated the term Osteogenesis imperfecta and the eponym Vrolik's syndrome for this genetic disorder characterized by increased fragility.

Bone and Bones↗
PubMed2000

Winged helix proteins.

The winged helix proteins constitute a subfamily within the large ensemble of helix-turn-helix proteins. Since the discovery of the winged helix/fork head motif in 1993, a large number of topologically related proteins with diverse biological functions have been characterized by X-ray crystallography and solution NMR spectroscopy. Recently, a winged helix transcription factor (RFX1) was shown to bind DNA using unprecedented interactions between one of its eponymous wings and the major groove. This surprising observation suggests that the winged helix proteins can be subdivided into at least two classes with radically different modes of DNA recognition.

Amino Acid Sequence↗
PubMed1995

Bazex syndrome: acrokeratosis paraneoplastica.

The focus of this article is acrokeratosis paraneoplastica, one of two disorders that have acquired the eponym Bazex syndrome. To date, all of the patients reported in the literature have had an underlying neoplasm, most commonly squamous cell carcinoma of the upper aerodigestive tract. In this review of 113 cases of acrokeratosis paraneoplastica (mean age, 61 years; 105 males, 8 females), the psoriasiform lesions preceded the diagnosis of the associated malignancy in 73 (67%) of 109 patients, whereas the cutaneous manifestations followed the diagnosis of the neoplasm in only 16 (15%) of 109; in the remainder, the onset of the skin lesions and the diagnosis of the tumor occurred simultaneously. Therefore, awareness of the cutaneous signs of Bazex syndrome is of obvious importance to dermatologists. Evidence in favor of the paraneoplastic nature of this disease is as follows: in 81 (93%) of 87 patients with adequate clinical descriptions, the skin lesions either improved significantly (or resolved) when the underlying neoplasm was treated or they remained unchanged in the setting of persistent disease. Occasionally, the reappearance of skin lesions has signaled a recurrence of the tumor.

Acrodermatitis↗
PubMed1980

Romberg and his test.

In the eponymous test described by Romberg in 1846, the erect patient is asked to close his eyes. If he falls, the test is positive and indicates the presence of a dorsal column lesion. Slight modifications have been described in the test but in all cases, great care must be taken to do it carefully. The test compares the stability of eye-opening with that of eye-closure. A positive test does not indicate vestibular or cerebellar disease.

Cerebellar Diseases↗
PubMed1989

Otological disease in Turner's syndrome.

1988 was the 50th anniversary of Henry Turner's original publication of the constellation of physical features which were subsequently recognized to be associated with a deprivation of X chromosomal material. The abnormalities of phenotype and karyotype are now eponymously associated with his name. Very many phenotype stigmata have now been recognized to be associated with Turner's syndrome. However, a survey of females with the syndrome revealed that they consider that a major disability associated with the abnormal karyotype results from otological disease and that this is poorly recognized as a significant feature of the syndrome. The incidence of otological disease in patients with this syndrome has been difficult to evaluate because of ascertainment bias and the apparent diversity of otological disorders previously reported. This report reviews the literature and details a study of otological disease and hearing impairment in a sample of Turner's syndrome females enrolled from a defined area.

Adolescent↗
PubMed2002

Jules Bernard Luys: a singular figure of 19th century neurology.

Jules Bernard Luys was a highly industrious and dedicated French investigator who made important contributions to the fields of neuroanatomy and neuropsychiatry in the second half of the 19th century. His name is still eponymically attached to the subthalamic nucleus and the centre médian nucleus, two structures that are at the center of our current thinking about the functional organization of the basal ganglia and the pathophysiology of Parkinson's disease. While developing a highly original view of the anatomical and functional organization of the human brain, Luys contributed significantly to our knowledge of the neuropathological and clinical aspects of mental illnesses. Luys devoted the last part of his career to hysteria and hypnosis, engaging himself in experiments as extravagant as the action of medication at distance. In doing so, he became perhaps the most highly caricatured example of the fascination that hysteria exerted upon various renowned neurologists at the end of the 19th century. This paper briefly summarizes the contribution of this remarkable figure of the history of neurology.

Basal Ganglia↗
PubMed1982

A tentative classification of recessively inherited ataxias.

We present a working classification of recessively inherited ataxic syndromes based on the use of simple tools available to every clinician: a good history (particularly pinpointing the age of onset) and a good neurological examination (simplified to the verification of the presence of ataxia, deep tendon reflexes in the knee, optic nerve, retinal and/or 8th nerve signs). In the three groups of disorders (non progressive, intermittent or progressive) patients can be hyper/normo reflexic, or they can be hypo/areflexic. Six principal types of progressive ataxic disorders are further delineated by the age of onset. Sub-types depend on the presence of absence of eye and ear signs, whereas eponymic or regional denominations are used only for simplicity while awaiting exact delineation of the biochemical defects.

Ataxia↗
PubMed2004

Proteomic analysis of the photosystem I light-harvesting antenna in tomato (Lycopersicon esculentum).

Until now, more genes of the light-harvesting antenna of higher-plant photosystem I (PSI) than proteins have been described. To improve our understanding of the composition of light-harvesting complex I (LHCI) of tomato (Lycopersicon esculentum), we combined one- and two-dimensional (1-D and 2-D, respectively) gel electrophoresis with immunoblotting and tandem mass spectrometry (MS/MS). Separation of PSI with high-resolution 1-D gels allowed separation of five bands attributed to proteins of LHCI. Immunoblotting with monospecific antibodies and MS/MS analysis enabled the correct assignment of the four prominent bands to light-harvesting proteins Lhca1-4. The fifth band was recognized by only the Lhca1 antibody. Immunodetection as well as mass spectrometric analysis revealed that these protein bands contain not only the eponymous protein but also other Lhca proteins, indicating a heterogeneous protein composition of Lhca bands. Additionally, highly sensitive MS/MS allowed detection of a second Lhca4 isoform and of Lhca5. These proteins had not been described before on the protein level in higher plants. Two-dimensional gel electrophoresis revealed an even more diverse composition of individual Lhca proteins than was apparent from 1-D gels. For each of the four prominent Lhca proteins, four to five isoforms with different isoelectric points could be identified. In the case of Lhca1, Lhca4, and Lhca3, additional isoforms with slightly differing molecular masses were identified. Thus, we were able to detect four to ten isoforms of each individual Lhca protein in PSI. Reasons for the origin of Lhca heterogeneity are discussed. The observed variety of Lhca proteins and their isoforms is of particular interest in the context of the recently published crystal structure of photosystem I from pea, which showed the presence of only four Lhca proteins per photosystem I. These findings indicate that several populations of photosystem I that differ in their Lhca composition may exist.

Amino Acid Sequence↗
PubMed2001

Enzyme replacement therapy in mucopolysaccharidosis type I: progress and emerging difficulties.

Mucopolysaccharidosis type I is due to a deficiency of the lysosomal enzyme alpha-L-iduronidase (EC 3.2.1.76) and is associated with a defect in the catabolism of the glycosaminoglycans heparan and dermatan sulphate. The clinical picture produced by this abnormal storage is diverse and ranges from a disorder that is fatal in the early months of life, due to cardiomyopathy, to a condition compatible with a normal life-span. It has become usual to describe the phenotypes associated with this spectrum of disorders after their eponymous names, Hurler (MPS IH, severe), Scheie (MPS IS, mild) and Hurler/Scheie (MPS IH/S, intermediate). Severely affected patients have progressive learning difficulties, facial and skeletal deformities, cardiac disease, corneal clouding, respiratory compromise and joint stiffness. Patients with MPS IH typically die in the first decade of life. MPS IH/S usually have normal intelligence and die in their twenties of cardiorespiratory disease. Patients with MPS IS may have joint stiffness, aortic valve disease and corneal clouding, but are often able to live a normal life-span. Enzyme replacement therapy has been developed as a potential therapy for some patients with MPS I. This process has been helped by the study of a naturally occurring canine model of the disease, which produces a phenotype similar to MPS IH/S in the human. This review details the progress that has been made in this area and also highlights some potential problems with the introduction of therapy.

Animals↗
PubMed2002

Evaluating attributions for an illness based upon the name: chronic fatigue syndrome, myalgic encephalopathy and Florence Nightingale disease.

In recent years, considerable discussion has occurred about stigma surrounding the name given to an illness currently known as chronic fatigue syndrome (CFS). Although patients and medical personnel have expressed varying opinions on this issue, no studies have evaluated how beliefs about the illness change based upon the type of name used for diagnostic purposes. Proposals have been put forth to rename the illness with an eponym (a famous patient's or researcher's name) or with a less trivial sounding, more medically based type of name. In this study, attributions about CFS were measured in three groups of medical trainees. All groups read the same case study of a person with classic symptoms of chronic fatigue syndrome, with the only difference being in the type of name given. Trainees then were asked to provide attributions about certain aspects of the illness, including its cause, severity, and prognosis. Results suggested that, across name conditions, most trainees appeared to consider the symptom complex of CFS a serious illness resulting in poor quality of life. In addition, findings indicated that the name, chronic fatigue syndrome, may be regarded less seriously than the Myalgic Encephalopathy name with respect to some important aspects of the illness. In this study, specialty of medical trainee also played a role in how the illness was perceived.

Attitude of Health Personnel↗
PubMed2001

Classification of the spectrum of Coats' disease as subtypes of idiopathic retinal telangiectasis with exudation.

PURPOSE: An increasing variety of eponymous terms have been used to describe atypical cases of Coats' disease. A group of typical cases of Coats' disease and other cases of differing severity were classified as one of four subtypes of idiopathic retinal telangiectasis with exudation and compared with regard to clinical outcome. METHODS: In a retrospective clinical review patients with typical and atypical Coats' disease were classified as severe, focal, juxtafoveal or associated (with another disease) forms of idiopathic retinal telangiectasis with exudation. RESULTS: 53 eyes in 50 patients were examined of which 62% (n=31) were male. 12 eyes were classified as severe (group 1), 22 focal (group 2), 12 juxtafoveal (group 3) and 7 associated (group 4). The mean age at diagnosis was lowest in group 1 eyes (6.8 years). The best visual acuity at presentation was 6/60 in group 1 whereas high proportions of eyes in the other groups had initial visual acuities of 6/24 or better. In group 1 only one eye was treated, the majority of eyes were blind or had been enucleated whereas 34 (79%) of eyes in the other groups were suitable for treatment and 29 eyes (67%) retained pre-treatment visual acuity or better at last follow-up. CONCLUSIONS: Idiopathic retinal telangiectasis with exudation is a spectrum of disease, which is synonymous with Coats' disease. In this retrospective study eyes with severe idiopathic retinal telangiectasis with exudation corresponding to typical Coats' disease, have poorer vision at presentation, are less suitable for treatment and have worse outcomes than eyes with other subtypes. The spectrum of disease severity seen in idiopathic retinal telangiectasis with exudation may be due to second somatic mutations in genes with an existing germline mutation (the two hit theory) and a mosaic phenotype.

Adolescent↗
PubMed1993

Images of Lisch nodules across the spectrum.

The presence of melanocytic hamartomas on the iris, known eponymously as Lisch nodules, is highly characteristic of neurofibromatosis type 1 (NF1). Early recognition of NF1 is vital for optimal detection of associated tumours and for genetic counselling of family members. Although the iris nodules are probably not visible at birth, their prevalence in patients with NF1 gradually increases from birth to about 50% of 5-year-olds, 75% of 15-year-olds and 95-100% of adults over the age of 30. Iris hamartomas in NF1 are elevated, pale brown lesions that vary in appearance depending on the underlying colour of the iris. Colour illustrations are shown in this article, enabling the clinician readily to differentiate hamartomas from other iris lesions.

Adolescent↗
PubMed1996

Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness.

Patients with congenital stationary night blindness enjoy normal daytime vision, which is mediated by cone photoreceptors, but are blind when ambient light is so dim that a normal individual would utilize only rod photoreceptors to see without colour discrimination. The disease is genetically heterogeneous. One form of dominantly inherited congenital night blindness is eponymously named "Nougaret' because pedigree analysis reveals that the disease originated in Jean Nougaret (1637-1719), a butcher who lived in Vendémian in southern France. Here we report that his affected descendants carry a missense mutation in the gene encoding the alpha subunit of rod transducin the G-protein that couples rhodopsin to cGMP-phosphodiesterase in the phototransduction cascade. Based on these results, rod transducin joins rhodopsin and the beta subunit of rod cGMP-phosphodiesterase to become the third component of the rod phototransduction cascade where a defect is implicated as a cause of stationary night blindness. Interestingly, the amino acid residue in transducin affected by the Nougaret mutation is in the position homologous to that affected by the oncogenic mutation originally reported in p21ras, a distant relative in the G-protein superfamily.

Amino Acid Sequence↗