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The Charles Bonnet syndrome and the problem of visual perceptual disorders in the elderly.

The literature, classical and modern, on visual perceptual disturbances in the elderly is reviewed. The utility of the concept of the Charles Bonnet Syndrome, an eponym originally coined to describe visual hallucinations in the elderly in the absence of cognitive impairment and peripheral ophthalmopathy, is challenged, particularly as the syndrome has become progressively enlarged. Three representative cases of elderly patients who have developed different types of visual perceptual disturbances are described. It is proposed to undertake a systematic study of the frequency of such disturbances in the elderly and of what other pathologies, particularly cognitive and visual, may be associated with them.

Aged↗

Analysis of transcription of the human Alu family ubiquitous repeating element by eukaryotic RNA polymerase III.

A series of clones that contain human Alu family elements are actively transcribed in soluble in vitro RNA polymerase III systems. The 5' ends of the in vitro transcripts are located about 170 nucleotides upstream of the eponymous Alu I site of the repeat, while a region associated with specifying of the initiation site for in vitro transcription lies in the region between 79 and 106 nucleotides upstream of the central Alu site. Thus, the RNA polymerase III transcription unit defined by the human Alu family is similar to other RNA polymerase III transcription units in possessing an internal region that is required for active transcription in vitro.

Animals↗

The heritage of Bernardino Ramazzini.

Although the seminal work in what was to become the specialty of occupational medicine appeared in 1700 as written by the Italian physician, Bernardino Ramazzini and titled De Morbis Artificum Diatriba, it was through the English translation by Wilmer Cave Wright in 1940 and and the subsequent scholarship of Dr Pericle Di Pietro of Modena, Italy, that this monograph became widely known. Ramazzini has been cited by innumerable medical authors and his volume has undergone many translations from the mid-18th century to the present day. References to this early observations of persons and work and their subsequent disease patterns repeatedly infuse today's description of work-related illness. That his pioneering efforts continue to receive adulation is seen in the organizations bearing his name, many eponymous awards, the striking Ramazzini Hall in Japan, and the continuing appearance of new reprintings of Diseases of Workers world-wide. The name Ramazzini marks the beginning of society's concern with the well-being and physical and emotional health of its workers from the shops of the crafts to the offices of the executives.

History, 18th Century↗

Naming acquired melanocytic nevi. Unna's, Miescher's, Spitz's Clark's.

In order to have an integrated system to classify acquired melanocytic nevi, specifically those that evolve through junctional, compound, and dermal phases, we propose to name them for those who first recognized or popularized them: Unna, Miescher, Spitz, and Clark. Historical, philosophical, and semantic justifications for an eponymic classification of acquired melanocytic nevi are presented.

History, 19th Century↗

Q-switched ruby laser treatment of mucocutaneous melanosis associated with Peutz-Jeghers syndrome.

Peutz-Jeghers syndrome is an eponym for circumscribed mucocutaneous melanosis in association with gastrointestinal polyposis. Irregular pigmented macules of varying size and color can be found on the perioral skin, lip vermillion border, buccal mucosa, palate, and tongue. Previous treatments, such as surgical excision, cryosurgery, electrodesiccation, dermabrasion, and carbon dioxide or argon laser ablation commonly result in incomplete removal, scarring, or changes in normal pigmentation. The Q-switched ruby laser used at 694 nm, a wavelength well absorbed by melanin relative to other optically absorbing structures in skin, causes highly selective destruction of pigment-laden cells. In addition, the 20-nanosecond pulse duration produced by this laser approximates the thermal relaxation time for melanosomes, thereby confining the energy to the target. The Q-switched ruby laser produces clinically significant fading of mucocutaneous melanosis in association with Peutz-Jeghers syndrome without complications often seen with other therapeutic modalities.

Adolescent↗

Alois Alzheimer, neuroscientist (1864-1915)

Little is known about the person behind the eponymous dementia, Alois Alzheimer. We wished to study his life and contributions to the field of neuroscience. All cited articles about Alzheimer by his contemporaries and selected correspondence by him was translated from German. Additional personal information was obtained from his granddaughter. Alois Alzheimer made seminal contributions to the field of neuroscience, not only through his own research but also through the numerous scientists and physicians whom he taught. His contributions made a lasting impact not only in the area of Alzheimer disease but also other aspects of brain disease. In addition, he emerges as a complex person who coped successfully with numerous personal and career-related dilemmas that remain relevant in the academic environment today.

Germany↗

Economic/reimbursement issues in MR imaging with gadolinium contrast agents.

Implementation of an accurate, reliable index of cost effectiveness would help to advance technology assessment and reimbursement of MR imaging procedures, including gadolinium enhancement. To this end, an objective, consensual measure that satisfies the need for "gold-standard" confirmation of diagnostic impressions in routine clinical practice and limits interpreter bias has been developed. Eponymously termed Diagnostic Merit, this barometer is expressed as the percentage of independent judges confirming diagnostic impressions entered by case-blinded radiologists assigned unenhanced and enhanced image sets for interpretation. The judges, who are informed of clinical indications, clinical follow-up, and unblinded diagnostic interpretation of the MR scans, confirm only those case-blind interpretations deemed "close enough for diagnostic utility" to actual clinical profiles. According to this method, gadopentetate dimeglumine has been shown to be cost effective by promoting optimal diagnostic performance. This improvement in utility offsets the cost of the gadolinium contrast agent. Efficacies of gadodiamide and gadoteridol, two other contrast agents in development, have been demonstrated by other measures but are probably also evaluable through the Diagnostic Merit method. CPT-4 codes for contrast-enhanced MR imaging are reviewed.

Cost-Benefit Analysis↗

Analysis of fronto-orbital advancement for Apert, Crouzon, Pfeiffer, and Saethre-Chotzen syndromes.

The purposes of this study were (1) to document outcome after primary fronto-orbital advancement for the four major eponymous craniosynostotic syndromes (Apert, Crouzon, Pfeiffer, and Saethre-Chotzen) and (2) to identify factors that might influence need for primary and secondary fronto-orbital advancement or foreheadplasty. Also tested was the hypothesis that coincident sagittal synostosis could modulate brachycephaly and affect whether a primary or secondary frontal operation was necessary. Data were collected on age and indications for initial operation, type of primary and secondary frontal procedures, and concomitant sagittal synostosis. Patients initially managed by subcranial Le Fort III were included in the study group but excluded from analysis of fronto-orbital advancement. Patients treated by monobloc advancement or Le Fort III osteotomies with frontal grafting or Anderl modification were assessed as having had primary fronto-orbital advancement. Minimum time to follow-up was 5 years. A total of 126 patients met inclusion criteria. Lateral photographs were examined to assess preoperative and postoperative sagittal position of supraorbital rims-to-globes. Frontal re-advancement was indicated if the corneal apex was anterior to the supraorbital rim. Foreheadplasty was indicated for unacceptable frontal contour and normal supraorbital rim-to-globe relationship. Primary correction for frontal retrusion was not required in 4 percent of Apert (1 of 25), 16 percent of Crouzon (7 of 44), 6 percent of Pfeiffer (2 of 31), and 19 percent of Saethre-Chotzen (5 of 26) patients. Of those infants who had a primary fronto-orbital advancement, reoperation for either supraorbital retrusion or frontal deformity was necessary in all 16 Apert patients and in 5 of 19 Crouzon (26 percent), 10 of 26 Pfeiffer (38 percent), and 13 of 20 Saethre-Chotzen (65 percent) patients (p < 0.001). Age at initial fronto-orbital advancement did not influence reoperative rate. No correlation was found between concomitant sagittal synostosis and necessity for primary or secondary frontal correction (p = 0.22). In summary, phenotypic diagnosis was determinant for outcome as defined by need for secondary fronto-orbital advancement, foreheadplasty, or both. Apert patients had the highest incidence of reoperation for frontal retrusion or forehead contour. Crouzon and Saethre-Chotzen patients were most likely to express a minor phenotype and not require fronto-orbital correction. Coincident sagittal synostosis did not influence frontal projection, as reflected in need for either primary or secondary frontal advancement.

Acrocephalosyndactylia↗

J. Marion Sims, the father of gynecology: hero or villain?

J. Marion Sims (1813-1884) has been called the "Father of Gynecology" for his revolutionary approach to treating the diseases of women. He rose from humble origins to become a successful surgeon, teacher, and writer. His innovations included the first successful treatment for vesicovaginal fistula, the first gallbladder surgery, and the introduction of antiseptic principles in all areas of surgical treatment. The "Sims position" and "Sims speculum" are eponymic tributes to his accomplishments. In recent years Sims has, however, become a focus of controversy because of his experimental surgeries on slave women. His powerful personality and messianic attitude led him to minimize moral problems, and to bristle against opposition. Ethical principles of autonomy and beneficence are important criteria for evaluating Sims' research. An exploration of the nature of Sims' work and the atmosphere in which he practiced will illuminate the critical ethical questions surrounding Sims' use of slave women as experimental subjects.

Female↗

Controversies surrounding Jarcho-Levin syndrome.

PURPOSE OF THE REVIEW: Jarcho-Levin syndrome is an eponym that has been used to describe a variety of clinical phenotypes consisting of short-trunk dwarfism associated with rib and vertebral anomalies. This admixture of phenotypes under Jarcho-Levin syndrome has allowed some confusion in terms of phenotype, prognosis, and mortality. In the past 2 years, few papers have provided more insight into the clinical diagnosis, prognosis, and management of patient with these phenotypes. RECENT FINDINGS: Recently molecular, clinical, and radiologic data have allowed further characterization of these phenotypes. Based on these findings, we have divided these phenotypes into spondylothoracic dysplasia and spondylocostal dysostosis. SUMMARY: A better understanding of the distinct phenotypes under Jarcho-Levin syndrome will help clinicians to understand the pathological factors of the disease, establish mode of inheritance, provide adequate genetic counseling, prognosis, molecular diagnosis, and clinical management recommendations.

Abnormalities, Multiple↗

Hyrtl's fissure.

Hyrtl's fissure is a transient anatomic landmark in the developing fetal petrous temporal bone and is usually closed by the normal progression of ossification in the 24th week of gestation. It occasionally persists into extrauterine life and has been reported as an unusual cause of a perilabyrinthine cerebrospinal fluid fistula. We present a case of a child presenting with bacterial meningitis because of a persistent Hyrtl's fissure. We have reviewed aspects of the fissure's developmental anatomy and previously published clinical cases. We have also explored the provenance of the eponym. We were unable to uncover evidence in support of the contention that Joseph Hyrtl was actually responsible for describing the structure commonly known as Hyrtl's fissure.

Anatomy↗

History: Frederic Woringer (1903-1964) and Woringer-Kolopp disease.

The two most famous dermatologic eponyms born in Strasbourg are Pautrier microabscess and Woringer-Kolopp disease. Frederic Woringer (1903-1964) was one of Pautrier's students, who had been in charge of the Laboratoire d'Histopathologie Cutanée in Strasbourg from 1930 until his death. He achieved a brilliant career in the field of dermatopathology and was very active during the great period between World War I and II. His name is linked to a rare disease, pagetoid reticulosis, which he actually misunderstood, as he was at first convinced that the characteristic intraepidermal changes were due to Paget cells. In this article, we show for the first time the original correspondence between Kolopp (who sent the case to Strasbourg) and Woringer, including discussion with masters such as Pautrier and Civatte. Civatte suggested that these mysterious intraepidermal cells might have common morphologic features with the recently described Sezary cells. After the first publication of pagetoid reticulosis, it took almost 40 years to establish a clear link with mycosis fungoides. It was Braun Falco who named the disease after Woringer and Kolopp in 1974. Woringer would certainly be surprised to know that his name is still world famous, thanks to a rare disease he was the first to extensively describe in 1939, a few days before the declaration of war.

Dermatology↗

Pick Complex: an integrative approach to frontotemporal dementia: primary progressive aphasia, corticobasal degeneration, and progressive supranuclear palsy.

BACKGROUND: Frontotemporal dementia (FTD) is a new label for clinical Pick's disease (PiD) because the eponymic term is increasingly restricted to the pathologic finding of Pick bodies. This restriction created the impression that PiD is rare and that is it difficult to diagnose. FTD is also a term most often used for behavioral and personality alterations. Primary progressive aphasia (PPA) and corticobasal degeneration (CBD), formerly the extrapyramidal variety of PiD, are also part of the syndrome. Recently, chromosome 17 localization and tau mutations were discovered in familial forms of the disease. REVIEW SUMMARY: FTD consists of behavioral and personality changes, often beginning with apathy and disinterest, which may be mistaken for depression. Disinhibition and perseverative, compulsive behavior often appear at the same time. A quantifiable frontal behavioral inventory is useful in the diagnosis beyond a checklist. The second type of presentation is progressive language loss (PPA). A less common variety is semantic dementia: the meaning of nouns and objects is lost. As the disease progresses, all components tend to overlap. CBD and progressive supranuclear palsy (PSP), although described as distinct entities, show a great deal of clinical, pathologic, genetic, and biochemical overlap. The evidence suggests they also belong to the complex. The association of motor neuron disease (MND) with FTD and other varieties of the complex is also reviewed. CONCLUSIONS: Clinical Pick's disease or Pick Complex includes the overlapping syndromes of FTD, PPA, CBD, PSP, and FTD-MND. The neuropathological and genetic spectrum should be viewed with emphasis on the commonalities rather than the differences, allowing the recognition of the relatively high frequency of this presenile syndrome.

Aphasia, Primary Progressive↗

Congenital auricular anomalies: topographic anatomy, embryology, classification, and treatment strategies.

Congenital auricular anomalies are heterogeneous, with various descriptive and eponymous terms being used. Current classification systems are useful in guiding surgical treatment of severe anomalies. However, they do not generally account for the less severe anomalies, which form the majority of congenital auricular anomalies, nor their contemporary treatment. In this article, the authors review the anatomy and embryology of the external ear and propose a simple classification of congenital auricular anomalies that encompasses all forms of congenital auricular anomalies, facilitates proper diagnosis, and guides treatment. Congenital auricular anomalies should be classified as malformational or deformational anomalies. Malformational auricular anomalies are caused by embryologic maldevelopment that occurs between the fifth and ninth week of gestation resulting in deficient and/or supernumerary auricular components. Deformational auricular anomalies result from in utero or ex utero deformational forces, including those caused by an aberrant insertion of the intrinsic or extrinsic auricular muscles. Malformational auricular anomalies generally require surgical correction during childhood or adolescence. For practical purposes, deformational auricular anomalies have a full complement of chondrocutaneous components that can be digitally manipulated to a normal shape. These anomalies are best treated by auricular molding, which is effective if it is initiated within the first 3 months of life. Deformational auricular anomalies are best regarded as a pediatric public health issue and are best managed nonsurgically. Education of neonatal pediatricians, obstetricians, family doctors, and midwives will allow proper early diagnosis of all congenital auricular anomalies, which is vital to appropriate treatment. These practitioners should be encouraged to manage deformational auricular anomalies early in life so that surgery can be largely avoided in these patients.

Congenital Abnormalities↗

Regional musculoskeletal examination: what the students say.

Confusion exists over which musculoskeletal examination skills medical students should learn. This study aimed to explore the views of third-year medical students. This was a qualitative study to allow in-depth exploration of beliefs and attitudes. Twenty students were randomly assigned to 1 of 2 focus groups. Their attitudes towards musculoskeletal examination were explored and discussed. The groups' discussions were recorded, transcribed, and framework analysis was undertaken with the aid of NUD*IST computer software. The following themes were identified: students dislike eponymous names for clinical tests; students felt there is a need for a more structured approach to musculoskeletal examination; students appeared unaware that many clinical tests were not based on evidence; students complained of a lack of confidence in the use of musculoskeletal clinical tests. Student's confidence in their musculoskeletal examination skills may be improved by the development of an agreed set of so-called core examination skills.

Journal Article↗

Papular and nodular mucinosis associated with systemic lupus erythematosus.

A patient is described in whom a papulo-nodular eruption occurred in association with systemic lupus erythematosus. Histopathology disclosed a diffuse deposition of mucin, mainly hyaluronic acid, in the dermis. This, and the 10 similar cases which have been reported in the literature, belong to a distinct clinico-pathological entity for which we propose the eponym of papular and nodular mucinosis of Gold, after the first observer to report it.

Adult↗

Halo dermatitis around a melanocytic naevus: Meyerson's naevus.

A case of halo dermatitis (eczema) around a pigmented naevus is reported. This appears to be a not uncommon condition which is not described in major dermatology textbooks. The relevant literature is reviewed, and the eponym 'Meyerson's naevus' is suggested.

Adult↗

Cock's peculiar tumour.

We describe the typical clinical and histological features of a case of giant proliferative pilar cyst which was complicated by severe iron deficiency anaemia. The condition, described by Cock in 1852 and eponymously known as Cock's peculiar tumour, is compared to giant proliferative pilar cyst. These entities are probably synonymous.

Epidermal Cyst↗