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PubMed1992

Hereditary hypotrichosis (Marie-Unna type) and juvenile macular degeneration (Stargardt's maculopathy).

Hypotrichosis of the Marie-Unna variety is a distinctive syndrome eponymously named following a publication in 1925 describing a family in which 27 individuals in seven generations were affected by a previously unreported type of hypotrichosis. Its inheritance is determined by an autosomal dominant gene and it usually occurs as an isolated abnormality. Hereditary macular degeneration (Stargardt's maculopathy) is also well recognized and has been reported in one family in association with alopecia areata but never in association with Marie-Unna hypotrichosis. Inheritance of Stargardt's maculopathy is autosomal recessive. Our patient demonstrates the co-existence of these two uncommon genetic disorders and it would appear that both defects have been independently inherited.

Child↗
PubMed2004

'Moffett's' solution: a review of the evidence and scientific basis for the topical preparation of the nose.

General anaesthesia, often causes a widespread vasodilation, producing a hyperaemic nasal mucosa, hence the need for a topical application to decongest the nose and reduce the nasal blood flow to optimize the operative field. The use of a combination of cocaine, sodium bicarbonate and adrenaline given the eponymous title of 'Moffett's Solution' is standard practice in many rhinological procedures to provide local anaesthesia, vasoconstriction and decongestion. We discuss each component of 'Moffett's' reviewing the science and evidence behind its usage and the huge variation in the techniques of its application.

Administration, Topical↗
PubMed1981

Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): report of a case with widespread nodal and extra nodal dissemination.

A fatal case of sinus histiocytosis with massive lymphadenopathy (SHML) is described in a male patient who presented at 11 years-of-age with swelling of the malar region and nasal obstruction due to the disease and who died aged 28 in uraemic coma following renal involvement. At autopsy SHML tissue extended into the hilum of both lungs and from the retroperitoneal tissue into the pancreas and kidneys. The appearances suggest that the extension of the disease into these organs may have been due to retrograde lymphatic spread from involved lymph nodes. Replacement of the atypical sinus histiocyte by fibrous tissue was seen in the cervical lymph nodes and this may be the usual mode of resolution of the lesion. The nature of SHML is discussed in relation to a possible infectious aetiology and defects in the host immune system. Finally, it is noted that the term 'massive lymphadenopathy' is not applicable to all cases and that sinus histiocytosis in not appropriate for the now frequently recognized extranodal manifestations of the disease. It is proposed that the term 'lymphophagocytic histiocytosis syndrome' should be adopted or that the eponymous title 'Rosai-Dorfman disease' should be used.

Adult↗
PubMed1988

Pilomatricoma (Malherbe). A clinical and histopathologic survey of 78 cases.

Seventy-eight cases of pilomatricoma are reported. The unexpected findings are new lesions occurring in middle and old age; the lack of association with other diseases; and the large number of lesions located deep in the skin. As contemporary knowledge of the nature of this disorder is advancing, it is suggested that the eponymous title be abandoned.

Adolescent↗
PubMed1985

Karsch-Neugebauer syndrome: split foot/split hand and congenital nystagmus.

A family with four members with split foot/split hand malformations and congenital nystagmus is described. The clinical characteristics in this family correspond to those seen in two other families previously reported. Taken together, these three families suggest that a single, pleiotropic dominant gene is causal. Karsch-Neugebauer syndrome is suggested as an appropriate eponymic designation for this disorder.

Abnormalities, Multiple↗
PubMed1989

Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome).

Five children from three unrelated families were born with symmetrical contractures of the knees, ankles and feet. An initial diagnosis of arthrogryposis multiplex was made, but frequent fracturing occurred after walking commenced and it was then recognised that the children had osteogenesis imperfecta. The pathogenesis of the congenital contractures is unknown, but the symmetry and lack of evidence of prior fracturing is suggestive of articular immobility during early intra-uterine development. The consistency of the anatomical distribution of the contractures, in the setting of a uniform OI phenotype, is suggestive of syndromic identity. A similar case was documented by Alfred Bruck in 1897 and we propose that the eponymous designation "Bruck syndrome" should be applied to the disorder.

Adolescent↗
PubMed1990

Kawasaki syndrome.

Kawasaki syndrome is an acute multisystem inflammatory disease of young children first described by Tomasaku Kawasaki in the Japanese literature in 1967. He reported 50 cases of this entity under the rubric of acute febrile mucocutaneous lymph node syndrome, a designation that has more recently been superseded by the eponym Kawasaki syndrome. The disorder was further delineated and brought to the attention of American pediatricians in 1974. Recognition of the syndrome followed rapidly, and Melish, Hicks and Larson published the first series of American cases from Hawaii in 1976. Subsequently, Kawasaki syndrome has been documented worldwide. Although the disorder is known to be a systemic vasculitis with predilection for the coronary arteries, the etiology has remained obscure despite intense investigative efforts.

Acute Disease↗
PubMed1991

Aortic aneurysm presenting as Budd Chiari syndrome.

Budd Chiari Syndrome is the eponymic designation of symptomatic post sinusoidal venous obstruction, whether or not this is associated with hepatic vein occlusion or vena caval obstruction. Dutta and associates (1) classified the syndrome into two distinct types. Type I involves obstruction to the hepatic veins while Type II pertains to an obstruction in the inferior vena cava above the entry of hepatic veins. We report a case of thoraco-abdominal aortic aneurysm presenting as Type II Budd Chiari Syndrome.

Adult↗
PubMed1997

Review: Barrett's oesophagus in Taiwan.

Barrett's oesophagus is the eponym applied to the columnar epithelium-lined lower oesophagus which is acquired as a complication of chronic gastro-oesophageal reflux (GER). Various complications seen in the Barrett's oesophagus, such as peptic ulcer, stricture, adenocarcinoma are named as Barrett's ulcer, Barrett's stricture-and Barrett's carcinoma, respectively. It is now generally accepted that Barrett's oesophagus is an acquired condition resulting from chronic repetitive GER. The frequency of Barrett's oesophagus seems to be higher in Caucasian than in Oriental or Negro populations. There is a tendency towards increasing prevalence rates all over the world, including Taiwan, due to the Westernization of diet, rapid growth in the elderly population, obesity etc. Almost 6% of the patients who manifest heartburn in GI clinics in Taiwan now suffer from GER, which is almost similar to the 7% reported by Nabel, (USA) in 1976. During the last 30 years, the incidence of esophageal adenocarcinoma has increased rapidly. Patients with Barrett's oesophagus have an increased risk of developing oesophageal adenocarcinoma and should be kept under surveillance. Regular follow-up, at least twice a year or preferably, every 2-3 months, for those patients with SCE using endoscopic surveillance and biopsy for those with severe dysphasia (oesophageal columnar intraepithelial neoplasia) in the surrounding area to detect Barrett's oesophagus cancer, is very important.

Adenocarcinoma↗
PubMed1981

Thyroid eye disease (TED)--a current understanding.

Thyroid Eye Disease (TED) provides a clinical meeting place for physician, ophthalmologist and immunologist. Some past difficulties in understanding this disease may have reflected too narrow specialization. In this presentation only three eponymous terms will be used --Graves' Disease, Plummer's Disease and Hashimoto's Disease.

Eye Diseases↗
PubMed2004

G. T. 1878-1960: master of language and surgery.

Sir Gordon Gordon-Taylor was the pre-eminent British surgeon of the first half of the twentieth century. He became known for his daring cancer surgery which he perfected at the Middlesex Hospital, and he promoted early operation for abdominal gunshot wounds in World War I. During World War II, as a surgeon rear admiral, he was not only an active surgeon in the London region, but he also acted as a significant ambassador for Allied surgery. After the War he was in great demand as an eponymous orator throughout the length and breadth of Great Britain and abroad, and he encouraged many Commonwealth surgeons, particularly those from Australia and New Zealand, to further their training in Britain and then he actively supported them in their later careers. His death following an accident in 1960 was mourned through the surgical world.

Australia↗
PubMed1997

Abernethy and the golden age of surgical teaching.

A beautifully bound handwritten volume, John Abernethy's Lectures on Surgery in the Cowlishaw Collection at the library of the Royal Australasian College of Surgeons proved the stimulus for a study of the work of Abernethy and two of his contemporaries in 19th century London, namely Charles Bell and James Paget. All excelled in the teaching of anatomy, physiology and pathology, continuing the Hunterian tradition. Abernethy extended Hunter's work on ligation of aneurysms and was a prime mover in the establishment of the Medical School at St Bartholomew's; Bell likewise assisted in the foundation of the Middlesex Hospital Medical School and made important discoveries relating to the nervous system and the circulation; James Paget excelled in the description of surgical pathology as a basis for disease presentation. All three became Fellows of the Royal Society and left a legacy of eponymous structures and important pathological and clinical knowledge.

General Surgery↗
PubMed2006

The Gordon Gordon-Taylor Memorial Lecture: surgical giants and giants among surgeons--the case of Abraham Colles.

Sir Gordon Gordon-Taylor was a surgical giant and a giant among surgeons. There's a distinction between the two. Surgical giants are technical geniuses who pave the way for others and set the standards against which others can measure their performance. Giants among surgeons contribute other things to the science and practice of surgery and sometimes to fields outside surgery. By these measures, Abraham Colles was not a surgical giant. He thought, wrote and taught about his interests. He enhanced the reputation of Irish surgery. In retrospect, his science and his ethics seem flawed by modern standards, but by the measures of his own time he was a model investigator and a man of outstanding moral probity. He is remembered for the eponymous Colles's fracture and for Colles's fascia and ligament. He held the Chair of Anatomy and Surgery in Dublin for 32 years and drew the admiration and affection of his contemporaries, colleagues and students. He was a giant among surgeons, and his name deserves commemoration.

Anatomy↗
PubMed1994

Charles-Edouard Brown-Séquard: double-hyphenated neurologist and forgotten father of endocrinology.

This year is the Centenary of the death of Brown-Séquard who, although remembered today only for his eponymous syndrome, was as well known in the Victorian medical world as Robert Maxwell was to newspaper readers in the past decade. His position in the history of endocrinology is paradoxical; a good case can be made for saying that he invented the doctrine of internal secretion. Yet, the excesses of the organotherapy movement he founded at the end of his life discredited endocrinology and probably delayed the discovery of insulin.

Diabetes Mellitus↗
PubMed2005

Molecular genetics of hereditary prothrombin deficiency in Indian patients: identification of a novel Ala362 --> Thr (Prothrombin Vellore 1) mutation.

Prothrombin deficiency is a rare (1:200 000) autosomal recessive disorder caused by diverse mutations in prothrombin gene. We have studied the molecular basis of this disorder in four unrelated Indian patients. The diagnosis was based on prolonged prothrombin (PT) and activated partial thromboplastin times and low factor II coagulant activity (FII: C) measured using a PT based assay. FII: C levels ranged between 4.7% and 17.5%. Mutations were identified in all the four patients. Five different causative mutations including four (80%) missense and an in-frame deletion (20%) were identified. One of them was a novel, Ala362 --> Thr amino acid change affecting 'B' chain of -thrombin. This mutation was present in a compound heterozygous state with a previously reported Arg-1 --> Gln missense change affecting pro-peptide cleavage site. Ala362 --> Thr occurred at a codon, evolutionarily conserved in all the 24 different prothrombins or its related serine proteases studied. Molecular modeling of this mutation was found to cause a conformational change around the region involving a catalytic triad residue His363 and a cysteine residue at codon 364. The FII: C level in this patient was 17.5%. Three other previously reported mutations were also detected in the homozygous state: Arg271 --> Cys in Kringle-2 region, a Glu309 --> Lys in "A" chain of -thrombin and an in-frame deletion of 3 bp (AAG) leading to Del Lys301/302 in "A" chain of -thrombin. This is the first report of the molecular basis of prothrombin deficiency in Indian patients and we suggest the eponym 'Prothrombin Vellore 1' for Ala362 --> Thr mutation.

Adult↗
PubMed1996

Neutral endopeptidase modulates septic shock.

Neutral endopeptidase (NEP; EC 3.4.24.11) is a type-2 cell-surface metalloproteinase known by a variety of eponyms, including enkephalinase, common acute lymphoblastic leukemia antigen (CALLA), and CD10. Identified substrates are largely neural or humoral oligopeptide agonists, and the enzyme functions to terminate signaling by degrading the ligand, analogous to the acetylcholine/acetylcholinesterase system. Targeted disruption of the NEP locus in mice results in enhanced lethality to endotoxin shock with a pronounced gene-dosage effect. The site(s) of action appears downstream from release of TNF and IL-1, as NEP-deficient animals demonstrate increased sensitivity to these mediators as well. This unexpected finding indicates an important protective role for NEP in septic shock.

Amino Acid Sequence↗
PubMed1976

Inherited metabolic diseases of the nervous system.

This overview was designed primarily to provide examples of hereditary metabolic disorders that result in nervous system dysfunction. Some of the more frequently encountered pathological conditions were selected in order to illustrate the mechanisms and the consequences of the metabolic derangements. Therapeutic approaches for the correction of such disorders are discussed where it appears appropriate. In time the precise etiology for those eponymous genetic conditions with stereotyped pathologic and clinical manifestations such as Huntington's chorea (79) and Friedreich's ataxia (80) will be disclosed. It is possible that some forms of epilepsy (81) and perhaps certain psychiatric disturbances (82) will be shown to be inherited metabolic disorders. As our knowledge and skill increase, this logic may eventually be extended to biochemical explanations of variation in individual skills and talents. Certainly innovative extrapolation and novel research directions will be necessary to provide an understanding of these differences. However, it is axiomatic in research that each useful contribution serves largely as a point of departure for further accomplishments.

Amino Acid Metabolism, Inborn Errors↗
PubMed1993

A mutant androgen receptor from patients with Reifenstein syndrome: identification of the function of a conserved alanine residue in the D box of steroid receptors.

Reifenstein syndrome is an eponymic term that describes partial androgen-insensitive disorders. Androgen receptor isolated from five patients with this syndrome contains a specific mutation in the DNA binding domain of the receptor. This mutation converts an alanine to a threonine at position 596 next to the zinc catenation site at the second finger. The threonine 596 mutant receptor mediated normal androgen response at promoters with closely positioned multiple regulatory elements for the androgen receptor and other transcription factors. Promoters with single isolated androgen response elements were not transactivated by the mutant receptor. In in vitro receptor-DNA binding studies, interaction with DNA by the mutant receptor was achieved only in the presence of an anti-androgen receptor antibody. Exchanging alanine 596 in the wild-type androgen receptor with serine or valine produced mutants with properties indistinguishable from those of the naturally occurring threonine 596 mutant receptor. These results indicate that an alanine residue at position 596 contributes important structural and functional activities to the androgen receptor. In the androgen receptor from the patients with Reifenstein syndrome, in which this alanine is converted to a threonine, wild-type receptor properties can be restored by exchanging an additional threonine at position 602 to an alanine. An alanine residue at position 596 or 602 in the DNA binding domain of the androgen receptor is therefore important for the full function of this receptor. In all steroid receptors that bind the core sequence AGAACANNNTGTTCT, an alanine residue is also present at a position equivalent to alanine 596 in the androgen receptor.

Alanine↗