Asunto(s)
Albinismo Ocular/genética , Mapeo Cromosómico , Cromosomas Humanos X/genética , Clonación Molecular , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Albinismo Ocular/historia , Canadá , Enfermedades Genéticas Ligadas al Cromosoma X/historia , Historia del Siglo XIX , Historia del Siglo XX , HumanosRESUMEN
How deep are the historical roots of our concept of major depression (MD)? I showed previously that psychiatric textbooks published in 1900-1960 commonly described 18 characteristic depressive symptoms/signs that substantially but incompletely overlapped with the current DSM (Diagnostic and Statistical Manual of Mental Disorders) MD criteria. I here expand that inquiry to the key years of 1880-1900 during which our major diagnostic categories of manic-depressive illness (MDI) and dementia praecox were developed. I review the symptoms of depression/melancholia in 28 psychiatric textbooks and 8 other relevant documents from this period including monographs, reviews and the first portrayal of melancholia Kraepelin in 1883. Descriptions of melancholia in the late nineteenth and twentieth century textbooks closely resembled each other, both reporting a mean of 12.4 characteristic symptoms, and emphasizing core features of mood change and alterations in cognitive content and psychomotor behavior. The detailed monographs, reviews and the early description of Kraepelin were more thorough, reporting a mean of 16.6 of these characteristic symptoms. These nineteenth century texts often contained phenomenologically rich descriptions of changes in mood and cognition, loss of interest and anhedonia and emphasized several features not in DSM including changes in volition/motivation, posture/facial expression and derealization/depersonalization. In the early nineteenth century, melancholia was often defined primarily by delusions or as the initial phase of a unitary psychosis transitioning to mania and then dementia. By 1880, the concept of depression as an independent mood disorder with characteristic symptoms/signs and a good prognosis had stabilized. Kraepelin incorporated this syndrome into his diagnostic concept of MDI, changing its name to 'Depressive States', but did not alter its underlying nature or clinical description.
Asunto(s)
Trastorno Depresivo Mayor/diagnóstico , Trastorno Depresivo Mayor/historia , Trastorno Bipolar/diagnóstico , Trastorno Bipolar/historia , Depresión/diagnóstico , Depresión/historia , Trastorno Depresivo Mayor/genética , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Genealogía y Heráldica , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Enfermedades Genéticas Ligadas al Cromosoma X/historia , Historia del Siglo XIX , Humanos , Trastornos del Humor/historia , Trastornos Psicóticos/diagnóstico , Trastornos Psicóticos/historia , Esquizofrenia/diagnóstico , Esquizofrenia/historiaRESUMEN
Dr. Thomas Drapes (1847-1919) was resident medical superintendent of Enniscorthy District Asylum in County Wexford, Ireland from 1883 to 1919, and one of the leading figures in Irish asylum medicine for several decades. Drapes' career was as complex as it was remarkable. Drapes was elected president of the Medico-Psychological Association for the term 1911-12 but had to decline on health grounds. In 1912, however, he was unanimously elected as co-editor of the Journal of Mental Science, to which he devoted his considerable energies and intellect. Drapes published widely, opposing Emil Kraepelin's proposed division of "functional" psychosis into manic-depressive illness and dementia praecox; openly examining the use of "punitive measures" in asylums (Enniscorthy had notably low rates of restraint and seclusion); and publicly bemoaning the folly of "psychophysical parallelism", or the spurious division between mental and physical symptoms in medicine. Although not immune to passing trends in medical thought (e.g. regarding sterilisation of the mentally ill to prevent further mental disorder), Drapes was generally independent-minded, insightful and incisive, and his legacy was to help shape Irish mental health care for many decades.
Asunto(s)
Hospitales Psiquiátricos/historia , Psiquiatría/historia , Trastorno Bipolar/historia , Enfermedades Genéticas Ligadas al Cromosoma X/historia , Historia del Siglo XIX , Historia del Siglo XX , Humanos , Irlanda , Trastornos Psicóticos/historia , Esquizofrenia/historiaRESUMEN
INTRODUCTION: The following paper by Professor GiovanniNeri and colleagues was originally published in 1988, American Journal of Medical Genetics 30:287299. This paper represented a seminal work at the time of publication as it not only reported a new family with a disorder that had been called the "gigantism-dysplasia syndrome", but also suggested naming the condition the Simpson-Golabi-Behmel syndrome. This eponym has clearly stood "the test of time", and that designation is now widely accepted. This paper is graciously republished by Wiley-Blackwell in the Special Festschrift issue honoring Professor Neri. We report on another family with the so-called "gigantism-dysplasia syndrome", an X-linked condition characterized by pre-and postnatal overgrowth, characteristic face with apparent coarseness, dysplastic changes in several tissues, and mild intellectual impairment. This condition has been called the Golabi-Rosen syndrome; however, we agree that is the same entity as that described, in a milder form, by Simpson et al. in 1975 and by Behmel et al. in 1984. Therefore, we suggest that this entity be designated the Simpson-Golabi-Behmel syndrome. The manifestations in affected individuals suggest that this condition represents an X-linked encephalo-tropho-schisis syndrome.
Asunto(s)
Arritmias Cardíacas/historia , Enfermedades Genéticas Ligadas al Cromosoma X/historia , Gigantismo/historia , Cardiopatías Congénitas/historia , Discapacidad Intelectual/historia , Arritmias Cardíacas/diagnóstico , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Gigantismo/diagnóstico , Cardiopatías Congénitas/diagnóstico , Historia del Siglo XXI , Humanos , Discapacidad Intelectual/diagnóstico , MasculinoAsunto(s)
Agammaglobulinemia/historia , Enfermedades Genéticas Ligadas al Cromosoma X/historia , Proteínas Tirosina Quinasas/historia , Proto-Oncogenes , Familia-src Quinasas/clasificación , Agammaglobulinemia Tirosina Quinasa , Agammaglobulinemia/enzimología , Secuencia de Aminoácidos , Linfocitos B/enzimología , Linaje de la Célula , Mapeo Cromosómico , Cromosomas Humanos X/genética , Clonación Molecular , Secuencia de Consenso , Femenino , Tamización de Portadores Genéticos , Enfermedades Genéticas Ligadas al Cromosoma X/enzimología , Historia del Siglo XX , Humanos , Masculino , Datos de Secuencia Molecular , Mutación , Proteínas Tirosina Quinasas/química , Proteínas Tirosina Quinasas/clasificación , Proteínas Tirosina Quinasas/deficiencia , Proteínas Tirosina Quinasas/genética , Alineación de Secuencia , Homología de Secuencia de Aminoácido , Inactivación del Cromosoma XAsunto(s)
Agammaglobulinemia/historia , Enfermedades Genéticas Ligadas al Cromosoma X/historia , Proteínas Tirosina Quinasas/historia , Agammaglobulinemia Tirosina Quinasa , Agammaglobulinemia/enzimología , Linfocitos B/enzimología , Linaje de la Célula , Cromosomas Humanos X/genética , Enfermedades Genéticas Ligadas al Cromosoma X/enzimología , Historia del Siglo XX , Humanos , Masculino , Células Mieloides/enzimología , Proteínas Tirosina Quinasas/química , Proteínas Tirosina Quinasas/deficiencia , Proteínas Tirosina Quinasas/genética , Proteínas Tirosina Quinasas/aislamiento & purificaciónRESUMEN
Although considerable recent work on hereditary eye diseases in Tasmanian families has been published, much of this depended on a century of meticulous pedigree collection by earlier clinical researchers. This article reviews some of the historical papers and the importance they have played in gene discovery and understanding of ophthalmic genetics. Tasmanian families have contributed to the identification of genes for X-linked megalocornea, Leber's hereditary optic neuropathy, retinitis pigmentosa, congenital cataract, ptosis, keratoconus, glaucoma and myopia. The true value of the Tasmanian pedigrees will be realized with the translation of genetic discoveries into early diagnosis and treatment for these eye diseases.
Asunto(s)
Enfermedades Hereditarias del Ojo/historia , Enfermedades Genéticas Ligadas al Cromosoma X/historia , Investigación Genética/historia , Enfermedades Hereditarias del Ojo/genética , Historia del Siglo XX , Historia del Siglo XXI , Humanos , Linaje , TasmaniaRESUMEN
The author gives a personal account on how he was introduced to the field of clinical genetics as a student of John Opitz in Helena, MT. That process was facilitated by the study of several malformation syndromes. Particularly instructive were the approaches to the cardio-facio-cutaneous, the Perlman, and the FG syndrome. These three conditions are briefly revisited with a critical perspective, made possible by the elapse of 20 years, since the time when the author became acquainted with them.