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At least 505 records · Page 28Linked to original sources
PubMed2005

Cardiac causes of sudden unexpected death in children and their relationship to seizures and syncope: genetic testing for cardiac electropathies.

The sentinel descriptions of congenital long QT syndrome (LQTS) under the eponyms of Jervell and Lange-Nielsen syndrome and Romano-Ward syndrome were provided in 1957 and the early 1960s. In 1995, the discipline of cardiac channelopathies was birthed formally with the landmark discoveries of cardiac channel mutations as the pathogenic basis for LQTS. Over the past decade, the discipline has expanded considerably being comprised of at least a dozen distinct heritable arrhythmia syndromes, several disease-susceptibility genes, and hundreds of implicated mutations. Previously confined to the purview of research testing, diagnostic genetic testing for several channelopathies is now available for routine clinical use.

Child↗
PubMed2000

Location, substructure, and composition of basal laminar drusen compared with drusen associated with aging and age-related macular degeneration.

PURPOSE: To determine whether basal laminar drusen differ in their location, ultrastructure, or composition from drusen associated with aging and age-related macular degeneration. METHODS: A paraffin-embedded block from an eye of a patient with basal laminar drusen was obtained. Sections were examined immunohistochemically using a battery of antibodies and lectins directed against drusen-associated proteins and glycoconjugates, respectively. Thin sections were examined by electron microscopy and compared with eyes with age-related macular degeneration. RESULTS: Drusen in the eye with basal laminar drusen are located between the basal lamina of the retinal pigment epithelium and the inner collagenous layer of Bruch membrane, just as they are in age-related macular degeneration. Two distinct ultrastructural phenotypes are observed in the eye with basal laminar drusen; their substructure is indistinguishable from drusen phenotypes in age-related macular degeneration. Both basal laminar drusen and drusen associated with age-related macular degeneration are bound by the lectins Ricinis communis agglutinin and Arachis hypogea agglutinin (after neuraminidase digestion) and by antivitronectin, anti-HLA-DR, anti-serum amyloid P, and anti-C5 antibodies, but not by antibodies directed against basement membrane-associated heparan sulfate proteoglycan, laminin, fibrinogen, or collagen type IV. CONCLUSIONS: These data support the notion that cuticular or basal laminar drusen are similar to, and perhaps indistinguishable from, drusen associated with age-related macular degeneration and are not nodular or diffuse thickenings of Bruch membrane, as previously suggested. Thus, we suggest basal laminar drusen is a misnomer. This clinical phenotype should be identified as "early adult onset, grouped drusen" or by the eponym "Gass syndrome." Features of basal laminar drusen, such as uniform drusen size, clustered distribution, and angiographic features, do not appear to be related to differences in drusen location, composition, or substructure.

Aging↗
PubMed1998

Genetic variation in human serum albumin: a 313 Lys-->Asn mutation in albumin reading identified by PCR analysis.

An early case of bisalbuminaemia was reported in this journal in 1964, with the name Albumin Reading added later. Its use in electrophoretic comparisons led to some new variants being described as 'of the Reading type' on this basis alone. Protein sequencing and DNA studies have since found the single point mutation 313 Lys-->Asn common to this type, but the eponymous variant has not, until recently, been available for study. We now report on its characterisation using PCR analysis with allele-specific oligonucleotide primers, a method also applicable to studies of the population distribution of variants. We also draw attention to the need to link clinically-significant effects to individual variants of known structure.

Aged↗
PubMed2003

Arnold Pick's concept of dementia.

Arnold Pick (1851-1924) provided the first description of the neurodegenerative disease associated with his name; but his importance to the field of neuroscience goes far beyond this eponymous gift. His view that the process of dementia should be seen as a mosaic of circumscribed neuropsychological deficits and not as a diffuse degradation of mental abilities is essential for progress in a cognitive neuropsychological approach to the study of dementias.

Austria↗
PubMed2003

Structural studies on a twin-arginine signal sequence.

Translocation of folded proteins across biological membranes can be mediated by the so-called 'twin-arginine translocation' (Tat) system. To be translocated, Tat substrates require N-terminal signal sequences which usually contain the eponymous twin-arginine motif. Here we report the first structural analysis of a twin-arginine signal sequence, the signal sequence of the high potential iron-sulfur protein from Allochromatium vinosum. Nuclear magnetic resonance (NMR) analyses of amide proton resonances did not indicate a signal sequence structure. Accordingly, data from H/D exchange matrix-assisted laser desorption/ionization-time of flight (MALDI-TOF) mass spectrometry showed that the amide protons of the signal sequence exchange rapidly, indicating the absence of secondary structure in the signal sequence up to L29. We conclude that the conserved twin-arginine motif does not form a structure by itself or as a result of intramolecular interactions.

Amino Acid Sequence↗
PubMed1977

Current concepts of prolacting physiology in normal and abnormal conditions.

Currently the physiology and pathophysiology of pituitary prolactin secretion are under intensive investigation. Development of sensitive, specific radioimmunoassays for hPRL and improved roentgenographic techniques have increased the diagnostic acumen for incipient pituitary microadenomas. Several modalities of treatment are available at the present time which can result in improvement in the clinical symptoms of the amenorrheagalactorrhea syndromes. Eponymic classification of amenorrhea-galactorrhea syndromes should be discarded and appropriate diagnostic studies initiated to determine the etiology of the inappropriate breast secretion and/or elevated serum hPRL level.

Adenoma↗
PubMed1997

Congenital extrahepatic portocaval shunts--the Abernethy malformation.

The first account of an absent portal vein and a congenital mesenterico-caval shunt was given by John Abernethy in 1793. Five new cases of congenital extrahepatic portocaval shunts are described in this report. One end-to-side shunt with congenital absence of the portal vein (type 1 shunt) is the 13th case in the literature. Four are side-to-side (type 2) shunts of which there have been only two previous reports. Type 1 shunts are associated with other congenital abnormalities and have only been recognized in girls. Five of these cases developed liver tumours. Type 2 shunts are rarer, and four of five have been boys. They are not usually associated with other anomalies. Encephalopathy may be associated with these shunts in adults, and surgical closure of the side-to-side shunts is therefore recommended. End-to-side shunts are not correctable but the abnormal anatomy may create a problem for hepatic transplantation, should this be necessary for associated disorders such as biliary atresia. "The Abernethy Malformation" would seem to be a suitable eponym for congenital extrahepatic portocaval shunts.

Adolescent↗
PubMed1993

Association of sickle cell disease, priapism, exchange transfusion and neurological events: ASPEN syndrome.

Priapism and acute neurological events are believed to be unrelated complications of sickle cell hemoglobinopathy. We describe a syndrome based on our experience and a review of the literature of significant neurological events after partial exchange transfusion to treat priapism in sicklemic patients. Severe headache is often the initiating symptom of this complex. The ensuing neurological events range from seizure activity to obtundation requiring ventilatory support. The proposed pathophysiology of these neurological events is related to cerebral ischemia after an acute increase in per cent total hemoglobin, concomitant decrease in per cent hemoglobin S and subsequent release of vasoactive substances during penile detumescence. We have termed this constellation of events the ASPEN syndrome, an eponym for association of sickle cell disease, priapism, exchange transfusion and neurological events. Early recognition and aggressive medical management resulted in complete reversal of neurological sequela.

Child↗
PubMed1976

Noonan's syndrome associated with polycistic renal disease.

Noonan's syndrome is an eponymic designation that has been used during the last 8 years to describe a variable constellation of somatic and visceral congenital anomalies, which includes groups of patients previously referred to as male Turner's, female pseudo-Turner's and Bonnevie-Ullrich syndromes. It is now recognized that both sexes may show the stigmas of this condition and, unlike Turner's syndrome, there is no karyotype abnormality although there is often a familial pattern. The most commonly observed anomalies include webbing of the neck, hypertelorism, a shield-shaped chest and short stature. Congenital heart disease, principally pulmonary stenosis, and sexual infantilism often with cryptorchidism in the male subject are additional associated anomalies in this syndrome. Renal anomalies have been described rarely and usually consist of rotational errors, duplications and hydronephrosis. We report the first case of an infant who displayed many of the stigmas of Noonan's syndrome and also showed early evidence of frank renal failure secondary to renal dysplasia with cystic disease.

Humans↗
PubMed2002

Frontotemporal dementia.

Frontotemporal dementia is a new name for clinical Pick's disease; the eponymic term PiD has been increasingly restricted to the pathologic variant with Pick bodies. This article describes the clinical picture, pathology, and genetic mechanisms of frontal lobe dementia. Frontotemporal dementia is still under-diagnosed and underestimated, partly because the individual components of the complex are considered separately or are considered "heterogeneous," a somewhat misleading adjective used in many descriptions. This article emphasizes the considerable overlap among the different varieties of frontotemporal dementia, as well as the distinctive features of each.

Aphasia, Primary Progressive↗
PubMed1997

Tips of the slongue: the enduring legacy of W.A. Spooner.

Slips of the tongue are common and often amusing phonic errors. Although surely not the first speaker to make such transpositions, W.A. Spooner (1844-1930) was well known for them and was the source of the eponym, "Spoonerism." Several of his noted slips are presented along with a whimsical obstetric presentation.

England↗
PubMed1985

Aortitis and large vessel arteritis in a newborn.

Disseminated arteritis with extensive involvement of the aorta, as well as involvement of the arch vessels, coronary arteries, and pulmonary arteries, but not of the arteries within the liver, spleen, kidneys, or other organs, is unusual in a newborn. The presence of both acute and chronic inflammation with fibrosis, as well as calcification and focal ossification in the aorta, would suggest that the process had been present for some time before birth. This lesion should be described rather than designated by an eponym or included with such entities as Takayasu's disease. An additional finding of interest was widespread calcification in Bowman's capsules of numerous glomeruli.

Aorta, Thoracic↗
PubMed1985

Choanal atresia and its associated anomalies. Further support for the CHARGE Association.

The finding of choanal atresia warrants careful and prompt consideration of other severe congenital anomalies in the newborn. In a chart review of 41 patients with the diagnosis of choanal atresia, 17 patients (41%) had choanal atresia alone while 24 (59%) had at least one other anomaly. Twenty-four (59%) of all patients had bilateral choanal atresia, and 75% of the patients with at least one other anomaly had bilateral choanal atresia. The following features were found to be associated with bilateral choanal atresia: significant structural heart disease (21%), postnatal growth retardation (36%), psychomotor retardation (19%), sensorineural deafness (21%), velopharyngeal discoordination (15%), micrognathia (12%), blocked tear duct (10%), high-arched palate (15%), and facial asymmetry (7%). Twenty-one other anomalies were described. Coloboma was encountered in 10% of our patients and only 3 patients had all of the features originally described in the CHARGE Association. The non-random association of multiple anomalies suggested by the eponym, CHARGE is discussed, and further data is offered for evaluating the child who presents with choanal atresia.

Abnormalities, Multiple↗
PubMed1998

Weber-Christian panniculitis: a review of 30 cases with this diagnosis.

BACKGROUND: More than 60 years ago, Christian described a panniculitis that was later termed Weber-Christian disease. OBJECTIVE: The purpose of this study was to investigate whether this is a specific disease or a nonspecific disease that embraces several specific conditions. METHODS: We studied 30 cases diagnosed as Weber-Christian panniculitis and found it possible to make a more specific diagnosis. RESULTS: In 12 patients, findings were compatible with erythema nodosum. Six patients had phlebitis or postphlebitic syndrome. Factitial panniculitis was diagnosed in five patients, and trauma had a role in the conditions of another three patients. Cytophagic panniculitis, lymphoma, and leukemia were recognized in one patient each. The lesion was lobular in almost all cases, and the presence of lipophagia was noted in 19 biopsy specimens. Granulomatous, neutrophilic, and lymphocytic pathologic changes were present in nine, eight, and eight tissue specimens, respectively. CONCLUSION: The recognition of distinct disease patterns of fat lesions as fat necrosis with pancreatic disease, alpha1-antitrypsin panniculitis, lupus and connective tissue disease panniculitis, involution lipoatrophy, lipomembranous panniculitis, factitial panniculitis syndromes, calcification panniculitis, lipophagic lipoatrophy, and cytophagic panniculitis has lessened the need for a less specific panniculitis category. All these diseases have been reported in the literature as "Weber-Christian disease." Because separate and distinct forms of fat lesions have been described, we believe that the eponym should be abandoned and that more specific diagnoses should be made on the basis of pathogenesis or cause.

Adult↗
PubMed2002

Mitochondrial dysfunction in the neuronal ceroid-lipofuscinoses (Batten disease).

There are at least eight genetic entities known as the ceroid-lipofuscinoses in humans which share clinical and pathological features that have caused them to be grouped together under the eponym of Batten disease. They present pathologically as lysosomal storage diseases but are also characterised by severe neurodegeneration. Although the biochemical defects appear primarily centred on lysosomes and defects in proteolysis, the link between this and pathogenesis of neuronal death is poorly understood. The pathogenesis of neurodegeneration has been studied particularly in two animal models these being the English setter dog and the New Zealand Southhampshire sheep (OCL6). In these, and some of the human entities, there is evidence of mitochondrial dysfunction. This includes the accumulation of subunit c of ATP synthase as a component of storage material in at least six of eight genetic forms of the disease; structural abnormalities of mitochondria and selective loss of neurons in areas of the brain that are particularly metabolically active. Direct evidence of dysfunction comes from mitochondrial function tests in fibroblasts and, in animal models, isolated liver mitochondria. Supporting evidence of mitochondrial dysfunction was shown by disturbances in proportions of energy-rich phosphates in fibroblasts in some of these diseases. If these various defects were reflected in neurons, then it would support the hypothesis that neuron death was associated with energy-linked excitotoxicity.

Animals↗
PubMed2001

[Stewart-Treves syndrome following mastectomy for breast cancer: a case report].

INTRODUCTION: Stewart-Treves syndrome has been defined by the eponymous authors as a lymphangiosarcoma in a setting of postmastectomy upper extremity lymphoedema. EXEGESIS: The clinical record of one patient with Stewart-Treves syndrome is analyzed. The primary angiosarcoma of the skin represented by a purple nodule occurred on a chronic lymphoedematous arm following radical mastectomy and axillary lymph node dissection for breast carcinoma performed 9 years earlier. Immunohistochemistry tests formally eliminated epithelial cutaneous metastasis and produced evidence in favour of conjunctive vascular tissue origin of the tumor. CONCLUSION: Conservative surgery for breast cancer, application of axillary sentinel node biopsy in the lymphatic staging and prevention of arm lymphoedema should reduce the incidence of this syndrome.

Arm↗
PubMed1994

Disorders of potassium homeostasis: an approach based on pathophysiology.

Disorders of potassium (K+) homeostasis are frequently encountered in clinical medicine and may have serious sequelae, particularly cardiac arrhythmias. Since long-term K+ balance depends on regulation of renal excretion of K+, the focus of this paper is to provide a novel way to analyze the K+ excretory process at the bedside in a noninvasive fashion. A fundamental aim was to incorporate recent new advances in K+ physiology to the clinical analysis of K+ disorders. In so doing, we have tried to replace eponyms and largely descriptive terms with more specific, but hypothetical pathophysiologic diagnoses. The approach we used focuses on an assessment of the components of K+ excretion in vivo. If the rate of excretion of K+ differs from the "expected" value for the stimulus of hypokalemia or hyperkalemia, one should determine whether the fault is with the flow rate and/or the [K+] in the terminal cortical collecting duct. The former is influenced primarily by the rate of excretion of osmoles when antidiuretic hormone acts, whereas the [K+] in the cortical collecting duct is determined by factors that modulate rate of electrogenic reabsorption of Na+ in that segment and its conductance for K+. By examining the extracellular fluid (ECF) volume status, the plasma renin activity, and the renal response to the induction of ECF volume contraction, we attempted to deduce whether the change in electrogenic reabsorption of Na+ was due to an altered Na+ transport or apparent permeability to chloride in the cortical collecting duct. We believe that an approach which draws heavily on pathophysiology can be of practical use at the bedside and, in addition, indicate areas in which more research could be fruitful. To illustrate these points, two clinical cases with hypokalemia and two with hyperkalemia were analyzed. Nevertheless, it is important to emphasize that the approach provided is speculative.

Adolescent↗
PubMed1998

Multiple roles for the Wilms' tumour suppressor gene, WT1 in genitourinary development.

Wilms' tumour is a childhood kidney cancer, and a classic example of cancer arising through disrupted development (Armstrong et al., 1992). It is one of the most common solid paediatric malignancies, affecting one in 10000 children. The genetics of Wilms' tumour is complicated, with several different genes or chromosomal regions being implicated (Armstrong et al., 1992). However, the gene we know most about is the Wilms' tumour predisposition gene, WT1 (Bickmore et al., 1992; Bruening and Pelletier, 1996). It is now clear that mutations in this gene in humans can lead to abnormalities of the kidneys and gonads, as well as to the eponymous tumour. Also, as discussed below, WT1 is essential for kidney, testis and ovary development, as revealed in knockout mice.

Animals↗