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At least 469 records · Page 26Linked to original sources
PubMed1995

Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive disease caused by mutations in the alpha-L-iduronidase (IDUA) gene. These mutations lead to a deficiency of the glycosidase alpha-L-iduronidase (IDUA), which is required for the degradation of heparan sulphate and dermatan sulphate and thus the storage of these glycosaminoglycans in the lysosome. There is a wide range of clinical phenotypes in MPS-I (eponyms: Hurler syndrome, severe; Hurler/Scheie syndrome, intermediate; Scheie syndrome, mild), which makes prediction of disease severity and genetic counselling difficult. However, since cloning of the IDUA gene, mutation analysis has provided some molecular explanations for the range of MPS-I phenotypes, in turn facilitating the selection and evaluation of patients undergoing experimental treatment protocols such as bone marrow transplantation. A total of 46 mutations now have been defined for MPS-I consisting of 8 nonsense mutations, 21 missense mutations, 3 splice site mutations, and 14 minor deletions and/or insertions. Furthermore, 30 polymorphisms or nonpathogenic sequence variants have been defined, including 7 amino acid substitutions. Among patients of European origin, there are two major MPS-I mutations and a number of less frequent mutations. It is possible to follow mutation analysis of 292 patients, which can be divided into eight main patient groups of different ethnic and/or geographic origin with significant variation in mutant allele frequencies. A complex picture of molecular heterogeneity is emerging, building a valuable database for genotype/phenotype correlation. Mutation analysis is also providing some of the first clues into the structure and function of IDUA.

Codon, Nonsense↗
PubMed2002

Morphological aspects of particle uptake by lung phagocytes.

Macrophages residing on the inner epithelial surfaces of airways and alveoli are the only lung phagocytes exposed directly to the environment. Their phagocytic and microbicidal activities are essential for maintaining this organ in a clean and sterile state. The morphology of these phagocytes can be investigated in situ only after implementing special techniques, which involve intravascular triple-perfusion of aqueous fixatives or instillation of nonpolar ones. Such studies have revealed the engulfment of particles by these cells to be rapid, the process being essentially complete within a day. Particles are entrapped within phagosomes and the host cells eventually transported out of the lungs by mucociliary action, macrophages with higher loads being more rapidly eliminated than those with lower ones. Very small particles or those persisting on the epithelial surfaces may be taken up by the eponymous cells. Translocation of particles into the underlying connective tissue and their subsequent phagocytosis by interstitial macrophages prolongs their retention time in the lungs. The still poorly studied pleural macrophages might be involved in cell-mediated immune responses within the pleural space. Intravascular pulmonary macrophages figure largely in the phagocytosis of circulating particles. The role played by dendritic cells in particle uptake by the lungs is not well understood. Airway and alveolar macrophages are the primary phagocytes of the lung. In nonoverload situations and for particles >1 microm, a small proportion of those recruited suffices to remove material from the epithelial surface before other phagocytes, with an apparently greater immunological potential, gain access to it.

Animals↗
PubMed1990

Metastatic tumors of the umbilicus: a review 1830-1989.

Umbilical metastases from known and unknown primary cancers are rare. The eponym "Sister Mary Joseph's nodule" has been used by generations of physicians. The first reports of this clinical sign were from Walshe in 1846. A review of the literature revealed 265 cases from then until 1989. Only 85 cases of umbilical metastasis from unknown primary tumors were found. This review should help us to focus on the common and uncommon primary sites in the diagnosis of patients with this finding. A single case report and the work-up for the hidden primary tumor are described.

Abdominal Neoplasms↗
PubMed2003

Pick's complex and FTDP-17.

This essay advances the thesis with a review of the evidence that Pick's disease, frontotemporal dementia, primary progressive aphasia, corticobasal degeneration, and progressive supranuclear palsy should be regarded as a clinically and biologically cohesive spectrum. The historically correct eponymic term Pick's complex, for both the clinical and pathological varieties is preferred. The discovery of tau mutations in frontotemporal dementia and parkinsonism linked to specific mutations in chromosome 17 and their resemblance to the sporadic cases validates the concept of Pick's complex. There are recently discovered overlaps between the three-repeat and four-repeat tauopathies, and the tau-negative varieties with or without motor neuron disease-type inclusions may be deficient in normal tau, therefore may be tauopathies also. Although clinical, pathological, and biochemical distinctions continue to be important, integration promises to be productive in this family of not so rare diseases.

Chromosomes, Human, Pair 17↗
PubMed2006

Olivopontocerebellar atrophy: toward a better nosological definition.

Olivopontocerebellar atrophy (OPCA) is a pathological label implying not only olivopontocerebellar changes, but also cases with more widespread lesions involving the CNS. This polytopic pathological background accounts for clinical complexity, essentially defined as cerebellar-plus syndrome. The term "OPCA" is applicable to an increasing number of neurodegenerative syndromes, including autosomal dominant ataxia, complicated spastic paraplegia, multiple-system atrophy (MSA), and many cases of idiopathic late-onset cerebellar ataxia (ILOCA), some of whom also turn out to have MSA. OPCA may also be part of the pathological hallmark of other disorders, such as prion disorders, mitochondrial encephalomyopathies, and hereditary metabolic diseases. Sporadic OPCA and ILOCA with cerebellar-plus presentation and neuroimaging evidence of brainstem and cerebellar atrophy may represent interchangeable eponyms. Just a quarter of such cases evolve to MSA within 5 years of the onset of symptoms. Therefore, the assumption that MSA and sporadic OPCA necessarily are one and the same disease is no longer tenable. Our review suggests that the label "OPCA" is useful to designate a clinicopathological syndrome that has a variety of etiologies carrying a poor prognosis, particularly if associated with autonomic failure as occurs in MSA.

Brain Stem↗
PubMed2003

Origins and early descriptions of "Duchenne muscular dystrophy".

One of the seminal events in the history of neurology was the identification of primary diseases of muscle and their separation from diseases in which muscle weakness was secondary to injury involving the anterior horns of the spinal cord ("progressive muscular atrophy"). Not surprisingly, one of the first groups of primary muscle diseases to be satisfactorily characterized belonged to what would today be classified as muscular dystrophies. Pride of place in this group belongs to Duchenne muscular dystrophy (DMD). DMD's primacy as the first well-characterized muscular dystrophy was due both to the fact that it is relatively common, as well as to the clinically striking feature, apparent in many cases, of apparent paradoxical enlargement of severely weakened muscles ("pseudo-hypertrophy"). This review traces the historical roots of DMD in the 19th century, from the early papers by Conte, Bell, Partridge, and Meryon through the classic monographs by Duchenne and Gowers. In addition, the first American contributions to DMD are reviewed, including those by Pepper, Hammond, and S. Weir Mitchell. Many of the original papers describing this disease are now unavailable outside of major medical libraries, and several important contributions, excepting those of Duchenne, which are recognized eponymously, are now virtually forgotten.

History, 19th Century↗
PubMed1999

The phenotype of mutations of G2655 in the sarcin/ricin domain of 23 S ribosomal RNA.

The sarcin/ricin domain (SRD) in Escherichia coli 23 S rRNA forms a part of the site for the association of the elongation factors with the ribosome and hence is critical for the binding of aminoacyl-tRNA and for translocation. The domain is also the site of action of the eponymous toxins which catalyze covalent modification of single nucleotides that inactivate the ribosome. The conformation of the conserved guanosine at position 2655 is an especially prominent feature of the structure of the SRD: the nucleotide is bulged out of a helix and forms a base-triple with A2665 and U2656. G2655 in 23 S rRNA is protected from chemical modification when the elongation factors, EF-Tu and EF-G, are bound to ribosomes and the analog of G2655 in oligoribonucleotides is critical for recognition by the toxin sarcin and by EF-G. The contribution of G2655 to the function of the ribosome has been evaluated by constructing mutations in the nucleotide and determining the phenotype. Constitutive expression of a plasmid-encoded rrnB operon with a deletion of, or transversions in, G2655 is lethal to E. coli cells, whereas a defect in the growth of cells with a G2655A transition is observed only in competition with wild-type cells. The sedimentation profiles of ribosomes with mutations in G2655 are altered; most markedly by deletion or transversion of the nucleotide, less severely by transition to adenosine. Mutations of G2655 confer resistance to sarcin on ribosomes. Ribosomes with G2655Delta, G2655C, or G2655U mutations in 23 S rRNA are not active in protein synthesis, whereas those with the G2655A transition mutation suffer decreased activity.

Base Sequence↗
PubMed1977

Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease.

A family is described in which for three subsequent generations numerous individuals were affected with a progressive neuropsychiatric disease with pyramidal, bulbar and cerebellar symptoms, relapsing course and gradually evolving severe dementia. Post-mortem studies performed on three siblings afflicted with the disease suggest that the remarkably uniform macroscopic picture of the cerebral changes consisting in multiple small cystic infarctions, particularly localized to the central grey and white matter and pons as well as the cortical and central brain atrophy, is caused by an occlusive disease of small intracerebral and leptomeningeal arteries and arterioles. Collected pertinent information concerning the affected family members shows that the illness begins in early adulthood (at 29--38 years of age), affects both sexes and generally lasts for 10--15 years. The only exception so far noticed was a second generation descendant of one of the siblings. This patient died about 5 months after clinical onset of the disease in massive cerebral haemorrhage and showed similar vascular changes as the older members of the family. The disease is considered to be genetically caused and transmitted as a dominant autosomal character. For this apparently new nosological entity the eponym "hereditary multi-infarct dementia" is suggested.

Adult↗
PubMed1997

Pathogenesis of non-traumatic atlanto-axial subluxation (Grisel's syndrome).

Non-traumatic atlanto-axial subluxation (AAS) is an uncommon complication of upper neck inflammatory processes and head and neck surgery. It is also known under the eponym of Grisel's syndrome (GS). We present a case report of a 6-year-old boy with GS that resulted from a retropharyngeal abscess. A diagnosis was not made until 2 months after the occurrence of infection. Re-evaluation of repeated CT scans of the neck showed the sequential development of AAS. These findings implied that the pathogenesis of GS is a distention of the ligaments between the atlas and axis rather than loosening of the ligaments caused by the spread of an inflammatory edema from the soft tissues of the neck as has been proposed by others.

Atlanto-Axial Joint↗
PubMed1995

The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia.

We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental delay. Despite extensive laboratory investigations, no specific cause for the abnormalities could be revealed. Strikingly similar features have been described in two brothers by Hoyeraal et al. [5] in 1970 and in one boy by Hreidarsson et al. [6] in 1988. The features seem to be part of a separate entity, for which the eponym "Hoyeraal-Hreidarsson syndrome" may be used. An autosomal or X-linked recessive mode of inheritance seems likely.

Abnormalities, Multiple↗
PubMed1996

The first Italian report on "Binswanger's disease".

The eponym "Binswanger's disease" is frequently used to indicate a form of vascular dementia characterized by white matter rarefaction and lacunar infarcts; however, it is difficult to find any consistency between this picture and the single case reported by Binswanger in 1894, which was vaguely defined both clinically and pathologically, and was probably a case of neurosyphilis. The first Italian report of a case of "Binswanger's disease" was published in 1958 by Donegani and Grattarola, who described a patient with a history of manic episodes followed by progressive mental deterioration. Pathological examination revealed changes mainly located in the hemispheric white matter, and the authors defined the patient as being affected by Binswanger's encephalopathy. Re-evaluation of this report indicates that the term "Binswanger's disease" has been applied to cases with non-specific clinical and pathological characteristics in the past. In this paper, we briefly compare Binswanger's original and the 1958 Italian case report, and discuss the current use of the term "Binswanger's disease".

Brain↗
PubMed2006

Jarcho-Levin syndrome.

Jarcho-Levin syndrome is an eponym that represents a spectrum of short trunk skeletal dysplasias with variable involvement of the vertebrae and ribs. Initially considered to be lethal, it is now accepted as compatible with life in its milder presentations. Here are reported two neonates with the lethal variety of this syndrome. One neonate had associated anomalies like hydrocephalus, hydroureteronephrosis and meningomyelocoele while the other had no additional anomalies. Also is reviewed the literature regarding this less understood disorder focusing on the applied clinical aspects that have stemmed out from the recent molecular research.

Bone Diseases, Developmental↗
PubMed1980

Classic articles in colonic and rectal surgery. Johann von Mikulicz-Radecki 1850-1905.

Johann von Mikulicz-Radecki was born in Cernowicz, then a part of Austria, now Rumania, on May 16, 1850. He was educated at Herrmannstadt and earned his way through the University by giving piano lessons and playing the organ. He achieved the degree of Doctor of Medicine at Vienna in 1875 and became an assistant to Billroth. At the age of 32 he became the Director and Professor of Surgery at Krakow, Poland. While there he performed the first esophageal resection and introduced lateral pharyngotomy in excising malignant tumors of the tonsillar region. In 1887 he became Director of the Clinic and Professor of Surgery in Konigsburg. At the age of 40 (1890), he became Professor of Surgery at Breslau, a position which he held until his death. Professor Mikulicz was known for his work on many surgical subjects. His name has been used eponymously in varied conditions and applications--these include Mikulicz cells, disease, drain, line, mask, ointment, and at least ten operations. In 1902 he described his two-stage resection for tumors of the intestine, which was published one year later. He died in Breslau on June 14, 1905, of carcinoma of the stomach.

Austria↗
PubMed2004

[The umbilical metastasis. Sister Mary Joseph and her time].

Although Baluff in 1854 and Nelaton in 1860 had already described umbilical metastases, the best known description of the metastasis of carcinomas to this site as "trouser button navel" was published in 1928 by William James Mayo (1861-1939), son of William Worrall Mayo (1815-1911), the founder of the Mayo Clinic in Rochester, Minnesota, This phenomenon is supposed to have been pointed out to Mayo by his long-serving head surgical nurse Sister Mary Joseph (1856-1939). The English surgeon Hamilton Bailey, in his famous textbook "Physical Signs in Clinical Surgery" in 1949, coined the term "Sister Joseph's nodule" for an umbilical metastasis. The expression has become widely accepted and used. Sister Mary Joseph, daughter of Irish immigrants, belonged to the 3rd order of the Holy Francis, was distinguished for her skills, intelligence and devotion to nursing which was also her calling. She worked for many decades at the world-famous Mayo Clinic and taught generations of young nurses. In recent years, the original surgical building at Saint Mary's Hospital has been named "Joseph Building" in her memory. Among the numerous eponyms occurring in the dermatology and the medicine, the association with the name of a nurse represents beyond doubt a special feature.

Abdominal Neoplasms↗
PubMed2001

The clinical and MRI correlate of ischaemia in the ventromedial midbrain: Claude's syndrome.

The eponymous syndrome of Claude is caused by a lesion of the red nucleus and adjacent third nerve nucleus, resulting in the combination of an ipsilateral oculomotor palsy and contralateral ataxia. The MRI correlate of this syndrome has only occasionally been described. We present three cases with MRI findings which confirm the association of this clinical syndrome with infarction of the ventromedial midbrain. The coexistence of hypertension and small vessel ischaemia in two cases suggests this type of infarct may arise as a result of small vessel disease.

Aged↗
PubMed2005

Misnomers in dermatology.

BACKGROUND: Dermatology lexicon is rich with descriptive terminology. However, for a variety of reasons, it also includes a number of misnomers. OBJECTIVE: To review the more commonly encountered and critically appraised misnomers in dermatology. METHODS: A search of MEDLINE (1966 - 2004), eMedicine dermatology text and electronic versions of two standard dermatology texts, Fitzpatrick's Dermatology in General Medicine and Dermatology, was performed using the permutations of the terms: dermatology, skin, cutaneous, and misnomer. RESULTS: Greater than 40 misnomers were identified. CONCLUSIONS: Misnomers in dermatology stem largely from lack of appreciation of underlying etiology or histopathological features of certain skin conditions, imprecise historical observations and erroneous eponymous credit. Historical, clinical, or histopathological explanations are used to clarify the nature of the misnomers, and in some cases suggestions for improved terminology are provided.

Dermatology↗
PubMed2005

Visual hallucinations and the Charles Bonnet syndrome.

After dividing clinicians for almost 70 years, Charles Bonnet syndrome has reached an impasse. Defined by a neurologist in the 1930s, the syndrome was intended to eponymize the association of visual hallucinations with age, but evolved into one describing their association with eye disease or, more recently, an etiologically neutral phenomenologic description. Each tradition has its merits but none has defined a specific clinical entity or accounted for visual hallucinations across the spectrum of associated clinical conditions. Recent insights into the neurobiology of vision have shed new light on the problem. Viewed from a neuro-phenomenologic perspective, clinical evidence reveals two distinct hallucination syndromes: one directly related to visual system pathology, the other to pathology in the brainstem or ascending neurotransmitter pathways. The implication is of two independent but interacting pathophysiologic mechanisms and of a need to reassess the classification and management of this common psychopathologic symptom.

Aged↗