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Francois de LaPeyronie (1978-1747): the man and the disease he described.

The evaluation of the treatments for Peyronie's disease is difficult; the natural history is such that the plaque may resolve spontaneously [82]. In 1973, Alec Badenoch made this comment and noted that no treatment had then been evaluated in a controlled clinical study [83]. The origin of the eponym is vague and the disease remains an enigma. To this day, the treatment can be difficult. It is not surprising that so many treatments have been tried and so much dogma written. Indeed, in 1903, William Johnson Walsham, the famous surgeon from St Bartholomew's Hospital in London, and author of the standard surgical text book of the day, wrote; "... if treatment of the plaque with iodides is unsuccessful ... or if the induration progresses ... then the whole penis must be promptly amputated!' [44]. We no longer believe this dictuml.

France↗

Benign Raeder's syndrome is probably a manifestation of carotid artery disease.

Raeder first described Horner's syndrome with ipsilateral head pain due to paratrigeminal organic disease, but most subsequent reports of this syndrome were idiopathic. Our recent case prompted a review of past reports of idiopathic Raeder's syndrome. Because in recent years the features of Raeder's syndrome have been recognized as common manifestations of carotid artery dissection, we divided the cases into those with and those without carotid imaging studies. The classifications and differential diagnoses are discussed. Sixteen cases with carotid imaging studies were not very different from the 28 cases without such studies. Most studies were performed several weeks after onset of symptoms and carotid dissection could not be definitely excluded in any case. In most cases of idiopathic Raeder's syndrome, carotid artery dissection was not considered and in no case was that condition definitively excluded. People with Raeder's syndrome not associated with a paratrigeminal organic lesion probably have a disease of the carotid artery. Because of the different criteria and classifications of Raeder's syndrome it is best to relegate this eponym to history.

Adult↗

Thoracic origin of a sympathetic supply to the upper limb: the 'nerve of Kuntz' revisited.

An understanding of the origin of the sympathetic innervation of the upper limb is important in surgical sympathectomy procedures. An inconstant intrathoracic ramus which joined the 2nd intercostal nerve to the ventral ramus of the 1st thoracic nerve, proximal to the point where the latter gave a large branch to the brachial plexus, has become known as the 'nerve of Kuntz' (Kuntz, 1927). Subsequently a variety of sympathetic interneuronal connections down to the 5th intercostal space were reported and also described as the nerve of Kuntz. The aim of this study was to determine: (1) the incidence, location and course of the nerve of Kuntz; (2) the relationship of the nerve of Kuntz to the 2nd thoracic ganglion; (3) the variations of the nerve of Kuntz in the absence of a stellate ganglion; (4) to compare the original intrathoracic ramus with sympathetic variations at other intercostal levels; and (5) to devise an appropriate anatomical classification of the nerves of Kuntz. Bilateral microdissection of the sympathetic chain and somatic nerves of the upper 5 intercostal spaces was undertaken in 32 fetuses (gestational age, 18 wk to full term) and 18 adult cadavers. The total sample size comprised 99 sides. Sympathetic contributions to the first thoracic nerve were found in 60 of 99 sides (left 32, right 28). Of these, 46 were confined to the 1st intercostal space only. The nerve of Kuntz (the original intrathoracic ramus) of the 1st intercostal space had a demonstrable sympathetic connection in 34 cases, and an absence of macroscopic sympathetic connections in 12. In the remaining intercostal spaces, intrathoracic rami uniting intercostal nerves were not observed. Additional sympathetic contributions (exclusive of rami communicantes) were noted between ganglia, interganglionic segments and intercostal nerves as additional rami communicantes. The eponym nerve of Kuntz should be restricted to descriptions of the intrathoracic ramus of the 1st intercostal space. Any of these variant sympathetic pathways may be responsible for the recurrence of symptoms after sympathectomy surgery.

Adult↗

Benign Valsalva's maneuver-related headache: an MRI study of six cases.

Cough headache is not infrequent, but there have not been any series studied with current neuroimaging techniques, and effective therapy has seldom been reported. In a large series from an outpatient clinic of a general hospital, we have studied, with MRI, eight cases of headache related to situations provoking sudden increase of intrathoracic pressure (cough, straining, stooping), similar to that elicited by a Valsalva's maneuver. One case showed hindbrain herniation and another showed isolated hydrocephalus. Symptoms did not differ between these two cases and the six cases without MRI abnormality. Initial symptoms presented between 49 and 67 years of age, and headache was of variable location and duration, mostly global and short-lasting. During a mean follow-up of 13.3 months, one patient became spontaneously asymptomatic, one improved on indomethacin, and two improved after treatment with propranolol. We propose the eponym, benign Valsalva's maneuver-related headache (as more appropriate than the equivalent "cough headache"), for cases in which headache is related to such situations and structural lesions are excluded by MRI or similar tests.

Aged↗

Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome).

The arguments over the nomenclature of the syndrome are reviewed. Ethical considerations favour replacing the present eponyms with the title of panthothenate kinase-associated neurodegeneration (PKAN), now that more is known about the cause of the condition. The symptoms and signs of the syndrome are described, and these can present from infancy to adult life. Dystonia, involuntary movements and spasticity are prominent causes of disability. If the onset is delayed the presentation can be unusual. Tests that can help in diagnosis are reviewed, especially the "eye of the tiger" revealed by magnetic resonance imaging scanning. Death usually occurs about 10 years after the onset, but the course may be more prolonged. The findings on autopsy are also considered, with the typical findings of iron pigment deposits and axonal spheroids. Then the causes are discussed. Once the responsible gene PANK2 had been discovered on chromosome 20 it was found that this encoded for pantothenate kinase which is essential for the synthesis of coenzyme A from pantothenate; and this is integral to fatty acid synthesis and energy metabolism. Also this can lead to a concentration of cysteine in the basal ganglia, and then to an accumulation of iron in these areas. The cysteine-iron complex will result in tissue damage by promoting oxidative stress, as in some other neurodegenerative diseases. The syndrome of PKAN can therefore be identified as a disorder of pantothanate, vitamin B5, metabolism. Infantile neuroaxonal dystrophy is briefly described as there have been suggestions that it is a variety of PKAN, but the evidence is in favour of the two diseases being separate entities. There may as yet be no specific treatment for this syndrome, but much can be done to help these children. Drugs may be needed to control epilepsy, and when dystonia is severe it may be possible to alleviate this by medical or surgical means. Also there will be other problems needing expert management, such as the provision of alternative means of communication if dysarthria is marked. The hope for the future is that now the cause has been found it will be possible to use methods such as antioxidative therapy and gene induction procedures.

Adolescent↗

Familial (idiopathic) paroxysmal dyskinesias: an update.

The clinical, pathophysiological and genetic features of some of the familial (idiopathic) paroxysmal movement disorders are reviewed. The paroxysmal dyskinesias share features and therefore may have the same pathophysiological mechanisms as other episodic neurological disorders which are known to be channelopathies. Paroxysmal kinesigenic choreoathetosis/dyskinesias (PKC/PKD) is a condition in which brief and frequent dyskinetic attacks are provoked by sudden movement. Antiepileptics particularly carbamazepine are very helpful for this condition. PKC has similarities to episodic ataxia type 1 which is caused by mutations of the KCNA1 gene. PKC and a related disorder in which infantile convulsions are associated (ICCA syndrome) have recently been linked to the pericentromic region of chromososme 16 in the vicinity of some ion channel genes. Paroxysmal exercise-induced dystonia (PED) is a rare disorder manifesting as episodes of dystonia mostly affecting the feet induced by continuous exercise like walking or running. The pathophysiology of PED is unknown and antiepileptic drugs are generally unhelpful. In paroxysmal dystonic choreoathetosis/nonkinesigenic dyskinesias (PDC/PNKD) the attacks are of long duration and induced by a variety of factors including coffee, tea, alcohol and fatigue but not by sudden movement. The gene for familial PDC has been linked to chromosome 2q close to a cluster of ion channel genes. Paroxysmal nocturnal dyskinesia is now known to be a form of frontal lobe epilepsy in some cases which may be familial with an autosomal dominant inheritance and has been given the eponym ADNFLE. ADNFLE is a genetically heterogenous condition. Mutations of the neuronal nicotinic acetylcholine receptor gene that have chromosome 20q have been reported in some families with ADNFLE. However, another family with ADNFLE has been linked to chromosome 15 in the area of another nicotinic acetylcholine receptor gene. Thus the familial paroxysmal dyskinesias appear to be clinically and genetically heterogeneous.

Chromosome Mapping↗

Acute interstitial pneumonitis: current understanding regarding diagnosis, pathogenesis, and natural history.

Acute interstitial pneumonitis (AIP) is a fulminant disease culminating in acute respiratory failure and often death. Originally described in 1935 by the pathologists Hamman and Rich, this rare syndrome is characterized by rapidly progressive pulmonary fibrosis, leading to frequent confusion with idiopathic pulmonary fibrosis. In fact, the eponym Hamman-Rich syndrome became synonymous with idiopathic pulmonary fibrosis despite clear differences in clinical presentation, radiography, pathology, and survival. In 1986, Katzenstein described eight patients with acute respiratory failure of unknown etiology. On biopsy, organizing diffuse alveolar damage was present in all specimens. Given the idiopathic nature of the disease, Katzenstein coined the phrase acute interstitial pneumonitis to distinguish it from the fibroproliferative stage of the acute respiratory distress syndrome (ARDS), which has an identical pathology. Olson et al retrospectively examined Hamman and Rich's original cases, compared them to contemporary cases of AIP, and found the two identical. Since then, little progress into understanding this disease has been made. Many questions still linger regarding the epidemiology, pathogenesis, and outcome. We recently published our experience with AIP providing new information regarding natural history. This review summarizes the current literature on AIP emphasizing diagnostic criteria, pathogenesis, and natural history.

Journal Article↗

Osteopetrosis.

Osteopetrosis is a rare sclerosing inherited dysplasia of bone caused by the deficient function of osteoclasts. At first the disease was divided into the severe infantile recessive and the more benign autosomal dominant types, but clinical differences and progress in genetic understanding have now enabled identification of two distinct autosomal dominant types. The eponym Albers-Schönberg disease should not be used as a generic term for the disease, because the single case reported almost 100 years ago almost certainly had an autosomal dominant inheritance. The diagnosis remains radiographic, supported by computed tomography (CT), if necessary. The use of magnetic resonance imaging (MRI) tends to be limited to imaging of the marrow in the severe recessive disease, which is usually fatal without marrow transplantation.

Bone Marrow Transplantation↗

[Classical crossed pontine syndromes].

Definitions of classical crossed brainstem syndromes in the modern neurological literature are often inaccurate and inconsistent. As a result, different clinical syndromes are designated with the same eponym, other crossed syndromes are nearly completely forgotten. In this study, the original historical publications on the classical alternating pontine syndromes of Foville, Millard-Gubler, Raymond, Raymond-Cestan, Brissaud-Sicard, Gasperini, Grenet and Gelle were reviewed and critically analysed. Their anatomic basis and etiology, and the main publications about each syndrome were discussed. We conclude that the syndromes of Foville, Millard-Gubler, Raymond, Raymond-Cestan and Brissaud-Sicard are interpreted in their essential parts concurring to their historical descriptions. Crossed syndromes of Foville and Millard-Gubler are occasionally mixed up with each other. The syndromes in the last decades described as crossed syndromes of Gasperini and Grenet were, however, never described by Gasperini and Grenet. The existence of the Gelle's as "paralysie alterné de l'acoustique" postulated syndrome seems to be very questionable.

Brain Stem↗

[The Leipzig Magistrates Court's death sentences in the Woyzeck case].

The trial of Johann Christian Woyzeck for murder is among the most significant for forensic psychiatry in the 19 (th) century. The case gained worldwide fame, not only because of Georg Büchner's eponymous drama. A thorough analysis and reconstruction of the proceedings would allow more light to be shed on one of the major events in the evolution of modern psychiatric positions regarding criminal responsibility. To support this effort, this paper presents two original sources that have just been rediscovered in the archives, and which are of major importance in respect of both the Woyzeck case and the history of forensic psychiatry. Until now only transcripts had been available. The two documents in question relate to the death sentences issued by the Leipzig magistrates court (Schöppenstuhl). They clearly show the ruling feudal and municipal authorities' efforts to exploit both the general rules of procedure as well as the forensic testimony given by Leipzig's medical officer and professor, Johann Christian August Clarus, for their own restorative political interests. This is revealed by the fact, among others, that the legal procedures are interpreted in the narrowest possible way and the crux of the problem, namely the culprit's criminal responsibility, is not really the focus of attention. The defence does not really have a chance, the more so since it makes pleas that are both contradictory and amateurist from a psychiatric point of view. Moreover, its efforts to garner support from reformist forces, above all among scholars, are undermined by the defence team's manipulation of the facts.

Forensic Medicine↗

Pigmented purpuric eruptions.

The pigmented purpuric eruptions most likely represent a group of clinical patterns of erythrocyte extravasation due to pericapillary inflammation. This inflammatory reaction may be in response to an immunologic reaction of some type, as suggested by immunopathologic studies and by the drug-induced pigmented purpuras. It is important to recognize this group of cutaneous purpura primarily to distinguish the pigmented purpuric eruptions from other types of purpura which are associated with systemic illness. The various eponyms or descriptive types of the pigmented purpuric eruptions are of historical and dermatologic interest; there is little clinical use in distinguishing among the types for a given patient.

Adult↗

[In the light of a petroleum lamp the operation could begin. Richard Frommel (1854-1912): pioneer in treatment of ruptured extrauterine pregnancy].

Richard Frommel (1854-1912) can be called an outstanding German gynaecologist during the late 19th century. This article is intended to give a picture of his life, work, and personality. Frommel was director of the department of obstetrics and gynaecology at the university of Erlangen from 1887 to 1901. Science owes to him, amongst other contributions, an important impulse for changing the therapy of ruptured ectopic pregnancy. Up to the present day Frommel's name together with that of Johann Chiari (1817-1854), serve as eponyms for a special form of the amenorrhoea-galactorrhoea syndrome, namely, the persistent one-post partum. It remains puzzling why Frommel resigned office, when he was just 46 years old, giving up gynaecology completely only a short time later.

Female↗

[Honeycomb-shaped corneal dystrophy of Thiel and Behnke. Reclassification and distinction from reis-Bücklers' corneal dystrophy].

BACKGROUND: The honeycomb-shaped dystrophy of Thiel and Behnke has been misunderstood for a long time and has erroneously been classified as Reis-Bücklers' dystrophy. The mistake originates in historical misunderstandings concerning the interpretation of the original Reis-Bücklers' dystrophy which results in a nonuniform nomenclature and a permanent confusion in the evaluation of the superficial stroma dystrophies. This paper intends to clarify the original identity of the honeycomb corneal dystrophy and to distinguish it from the Reis-Bücklers' dystrophy. PATIENTS AND METHODS: We examined seven patients of the original family of Thiel and Behnke. Five of them were newly detected, two of them were reexamined. The histological findings were reevaluated, and the diagnosis was proved by electron microscopic study of corneal specimens. RESULTS: The honeycomb dystrophy is characterized by: (1) dominant inheritance, (2) early manifestation, (3) slow progression, (4) painful erosions during childhood, (5) subepithelial corneal opacities with a clear limbal zone, (6) honeycomb-shaped opacity pattern, (7) recurrence in the graft following keratoplasty, (8) subepithelial fibrous tissue in wave-like accumulation in histologic sections, (9) curly filaments observed by electron microscopy. The clinical symptoms hardly differ from those of Reis-Bücklers' dystrophy. The histological appearance, however, is clearly distinct and curly filaments are the pathognomonic ultrastructural features. CONCLUSIONS: The honeycomb dystrophy represents a definite corneal disease. The terms "Reis-Bücklers' dystrophy" and "ring dystrophy" used for it up to now are wrong and should be eliminated in this context. The only correct term of the disease is honeycomb-shaped dystrophy (Thiel-Behnke) according to its first description and major clinical features. The eponym Reis-Bücklers' dystrophy should only be used for the corneal dystrophy described by Reis and Bücklers.

Adolescent↗

Abdominal hernias: imaging review and historical perspectives.

Many eminent anatomists originally described abdominal hernias, some of which are still named after the original authors. In this article, the radiologic features of abdominal hernias are reviewed as imaged on x-ray, ultrasound, multidetector computed tomography, and magnetic resonance imaging. Recognition of the typical appearance of various types of abdominal hernias and associated adverse features such as bowel obstruction, perforation, strangulation, or volvulus formation can help in formulating an accurate diagnosis. A short biography of the scientists associated with eponymous hernias and their other important scientific contributions are also described.

Hernia, Abdominal↗

Diffuse large B-cell non-Hodgkin's lymphoma presenting as Sister Joseph's nodule.

Traditionally associated with intra-abdominal epithelial tumours, umbilical metastases (known eponymously as "Sister Joseph's nodules") are often thought to represent advanced malignancy with dismal prognosis. Lymphomas are rare causes of umbilical metastases, with no cases reported prior to 1966 and only three cases since. We describe a patient who presented with diffuse large B-cell non-Hodgkin's lymphoma with "signet ring" morphology manifesting as a "Sister Joseph's nodule", who had an excellent response to systemic therapy, with no detectable disease at 12 months post-completion of therapy. Our experience with this patient highlights the need for accurate histological diagnosis in all umbilical metastases, and dispels the widely held assumption that "Sister Joseph's nodules" represent disseminated malignancy beyond the realm of effective therapy. The patient's unusual histology and pattern of disease involvement are also discussed.

Abdominal Neoplasms↗

Neuropsychiatry of complex visual hallucinations.

OBJECTIVE: To describe the phenomenology and pathophysiology of complex visual hallucinations (CVH) in various organic states, in particular Charles Bonnet syndrome and peduncular hallucinosis. METHOD: Three cases of CVH in the setting of pontine infarction, thalamic infarction and temporoparietal epileptiform activity are presented and the available psychiatric, neurological and biological literature on the structures of the central nervous system involved in producing hallucinatory states is reviewed. RESULTS: Complex visual hallucinations can arise from a variety of processes involving the retinogeniculocalcarine tract, or ascending brainstem modulatory structures. The cortical activity responsible for hallucinations results from altered or reduced input into these regions, or a loss of ascending inhibition of their afferent pathways. CONCLUSIONS: A significant degree of overlaps exists between the concepts of Charles Bonnet syndrome and peduncular hallucinosis. The fluidity of these eponymous syndromes reduces their validity and meaning, and may result in an inappropriate attribution of the underlying pathology. An understanding of how differing pathologies may produce CVH allows for the appropriate tailoring of treatment, depending on the site and nature of the lesion and content of perceptual disturbance.

Adult↗

Neutral endopeptidase modulation of septic shock.

Neutral endopeptidase (NEP; EC. 3.4.24.11) is a type 2 cell surface metalloprotease known by a variety of eponyms, including enkephalinase, common acute lymphoblastic leukemia antigen, and CD10. Identified substrates are largely neural or humoral oligopeptide agonists, and the enzyme functions to terminate signaling by degrading the ligand, analogously to acetylcholine/acetylcholinesterase. 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 tumor necrosis factor and interleukin-1 since NEP-deficient animals demonstrate increased sensitivity to these mediators as well. This unexpected finding indicates an important protective role for NEP in septic shock.

Animals↗

Staphylococcus aureus golden pigment impairs neutrophil killing and promotes virulence through its antioxidant activity.

Golden color imparted by carotenoid pigments is the eponymous feature of the human pathogen Staphylococcus aureus. Here we demonstrate a role of this hallmark phenotype in virulence. Compared with the wild-type (WT) bacterium, a S. aureus mutant with disrupted carotenoid biosynthesis is more susceptible to oxidant killing, has impaired neutrophil survival, and is less pathogenic in a mouse subcutaneous abscess model. The survival advantage of WT S. aureus over the carotenoid-deficient mutant is lost upon inhibition of neutrophil oxidative burst or in human or murine nicotinamide adenine dinucleotide phosphate oxidase-deficient hosts. Conversely, heterologous expression of the S. aureus carotenoid in the nonpigmented Streptococcus pyogenes confers enhanced oxidant and neutrophil resistance and increased animal virulence. Blocking S. aureus carotenogenesis increases oxidant sensitivity and decreases whole-blood survival, suggesting a novel target for antibiotic therapy.

Abscess↗