Giovanni Nigro and the Naples's school: historical contribution to the knowledge of heart involvement in Duchenne/Becker muscular dystrophies.

It is now accepted worldwide that cardiac involvement in Duchenne and Becker muscular Dystrophies, is a constant feature. The concurrent impairment of the heart as a muscle in dystrophic process was an inspired idea by Prof. Giovanni Nigro ten years before the discovery of the dystrophin gene, occurred in 1987. This article is intended to be a recognition to him and to the Neapolitan School he directed for the contribution in the knowledge of cardiac involvement in the course of Duchenne (DMD) and Becker (BMD) Muscular Dystrophies and in DMD/BMD carriers.

Guillaume-Benjamin Duchenne: a miserable life dedicated to science.

Duchenne de Boulogne is known mainly by the disease eponymously named "Duchenne muscular dystrophy", or pseudohypertrophic muscular dystrophy, although some experts consider that the original description of this disease does not belong to him. Less well known are the facts related to the tragic death of his beloved wife shortly after the birth of his only child, the unjustifiable distance he was forced to keep from this son for more than 30 years, and of being humiliated and professionally despised by his peers. These events made the life of this physician, physiologist, researcher and inventor extremely arduous. We emphasize some aspects of the history of this man, his work and his life, a true genius of few friends.

Guillaume-Benjamin Duchenne: a miserable life dedicated to science / Guillaume-Benjamin Duchenne: uma vida de sofrimento dedicada à ciência

ABSTRACT Duchenne de Boulogne is known mainly by the disease eponymously named "Duchenne muscular dystrophy", or pseudohypertrophic muscular dystrophy, although some experts consider that the original description of this disease does not belong to him. Less well known are the facts related to the tragic death of his beloved wife shortly after the birth of his only child, the unjustifiable distance he was forced to keep from this son for more than 30 years, and of being humiliated and professionally despised by his peers. These events made the life of this physician, physiologist, researcher and inventor extremely arduous. We emphasize some aspects of the history of this man, his work and his life, a true genius of few friends.

RESUMO Duchenne de Boulogne é conhecido por muitos principalmente devido à doença que leva seu nome - doença de Duchenne ou Distrofia Muscular Pseudo-hipertrófica - embora alguns historiadores considerem que a descrição original desta doença não lhe pertence. Menos conhecidos são os fatos relacionados à morte trágica de sua amada esposa logo após o nascimento de seu filho, o afastamento injusto que foi forçado a manter deste filho único por mais de 30 anos, e ser humilhado e profissionalmente desprezado por seus pares da comunidade neurológica, que em conjunto tornaram a vida desse médico, fisiologista, pesquisador e inventor, extremamente árdua. Enfatizamos alguns aspectos da história deste homem, seu trabalho e ocaso, protótipo de um verdadeiro gênio de poucos amigos.

Papel de las poliaminas en la transducción de señales intracelulares: posibles proyec­ciones de uso clínico en el manejo de las distrofias musculares por medio de su inhibi­ción con difluorometilornitina / Polyamines role in intracellular signals transduction: possible projections for clinical use in muscular dy strophies ' management through its inhibition with difluoromethylornithine

Las distrofias musculares de origen genético son muy diversas y, tanto su diagnóstico preciso como su manejo, suponen un reto importante. En cuanto a este último aspecto, no obstante el desarrollo en proceso de nuevas estrategias a nivel molecular para su tratamiento, las herramientas con que se cuenta para este propósito son limitadas, y pocas veces pueden influir de manera efectiva para evitar el deterioro progresivo que muchos de estos pacientes experimentan. Además, las terapias de última generación no abarcan la gran diversidad de estas patologías y no se espera que estén disponibles a corto plazo para la mayoría de los pacientes. El propósito del artículo es mostrar el papel de las poliaminas, actores ubicuos en el metabolismo in­ tracelular tal vez poco conocidos; cómo están involucrados en los procesos fisiológicos y patológicos, y cómo también pudiesen estar involucrados en la fisiopatología de las distrofias musculares. Su inhi­bición controlada, mediante Difluorometilornitina (DFMO), pudiese constituir un mecanismo para en­ lentecer o eliminar el deterioro muscular de estos pacientes, al utilizarse como una herramienta dentro del arsenal de las ya existentes

Muscular dystrophies of genetic origin are very diverse and, both their precise diagnosis and their management represent an important challenge. Regarding this last aspect, despite the development in process of new strategies at the molecular level for its treatment, the tools available for this pur­ pose are limited, and can rarely influence effectively to avoid the progressive deterioration that many of these patients experience. In addition, the lates t­generation therapies do not cover the great diversity of these pathologies and are not expected to be available in the short term for most patients. The purpose of the article is to show the role of polyamines, ubiquitous actors in intracellular meta­ bolism, perhaps little known; how they are involved in physiological and pathological processes, and how they could also be involved in the physiopathology of muscular dystrophies. Its controlled inhi­ bition, by difluoromethylilitin (DFMO), could be a mechanism to slow or eliminate the muscle deterio­ ration of these patients, by being used as a tool within the arsenal of those already existing.

[Muscular dystrophies in literature, cinema and television]. / Las distrofias musculares en la literatura, el cine y la television.

INTRODUCTION: Muscular dystrophies are inherited disorders, produced by a genetic mutation, with a slow or rapid progression, that basically affect striated muscle tissue. There are several clinical forms, the most frequent being Duchenne's muscular dystrophy and Becker muscular dystrophy. AIM: To analyse how muscular dystrophies have been portrayed in literature, cinema and television. DEVELOPMENT: Muscular dystrophy is a disorder that has been reflected in literature, cinema and television. In some cases it is only mentioned, sometimes it plays a secondary role in the plot, and in others it is the lead character who suffers from the disease. In general, reference is made to Duchenne's disease and, albeit less frequently, to Becker muscular dystrophy, although in some cases the patient is just said to be suffering from muscular dystrophy, without specifying what clinical variety it belongs to. Testimonials, novels, comics, fiction films, documentaries, short films and television programmes have all been produced with the aim of making the disease and its implications more widely known, as well as making the public aware of the need to invest resources in research. CONCLUSIONS: Muscular dystrophy has been portrayed quite realistically in literature, cinema and television, and Duchenne's muscular dystrophy is the clinical variety that has been shown most often. Aspects that have been reflected include its symptoms, progression, prognosis, the role of the family and caregivers, sexuality, palliative care, patients' will to overcome difficulties and the need to raise society's awareness of the condition and to invest more resources in research.

TITLE: Las distrofias musculares en la literatura, el cine y la television.Introduccion. Las distrofias musculares son enfermedades hereditarias, producidas por una mutacion genetica, lentas o rapidamente progresivas, que afectan fundamentalmente a la musculatura estriada. Existen diversas formas clinicas, y las mas frecuentes son la distrofia muscular de Duchenne y la distrofia muscular de Becker. Objetivo. Analizar como se han representado las distrofias musculares en la literatura, el cine y la television. Desarrollo. La distrofia muscular ha sido reflejada en la literatura, el cine y la television. En algunos casos solo se menciona, en otros tiene un papel secundario en la trama y en otros es un personaje principal el que sufre la enfermedad. Generalmente se hace referencia a la enfermedad de Duchenne, y con menos frecuencia a la de Becker, aunque en algunos casos solo se menciona que el paciente presenta distrofia muscular, sin especificar a que variedad clinica pertenece. Podemos encontrar obras de testimonio, novelas, comics, largometrajes de ficcion, documentales, cortos y programas televisivos que pretenden dar a conocer la enfermedad y sus implicaciones, y concienciar a la poblacion sobre la necesidad de invertir recursos en la investigacion. Conclusiones. La distrofia muscular ha sido representada con realismo en la literatura, el cine y la television, y la distrofia muscular de Duchenne es la variedad clinica que se ha mostrado mas habitualmente. Se han reflejado los sintomas, la evolucion, el pronostico, el papel de la familia y los cuidadores, la sexualidad, los tratamientos paliativos, el espiritu de superacion, y la necesidad de concienciar a la sociedad y de invertir mas recursos en investigacion.

Screening for Duchenne muscular dystrophy in Germany, 1977-2011: A personal story.

EDITOR'S NOTE: This article by Dr. Günter Scheuerbrandt is a fascinating personal account and historical narrative of the birth and development of a screening program for Duchenne Muscular Dystrophy in Germany, beginning 40 years ago. As the author notes, approval of an institutional review board or ethics committee was not required for this type of scientific investigation in one's field at the time this program was begun, but we have removed all personal data from any of the materials presented in here in order to conform to current concepts of ethical publication. This article is about the screening of 528,410, mostly 4-6-week-old, boys in Germany between 1977 and 2011 for high levels of creatine kinase (CK) to identify those with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). During these 34 years of infant screening, 147 boys with confirmed, probable, and possible DMD (incidence 1:3,600 male births) and 33 boys with confirmed, probable, and possible BMD (incidence 1:15,500 male births) were found. Research reports about DMD were sent to families and pediatricians participating in the screening, and, on request, to families and scientists everywhere. It is hoped that screening programs used as the basis for future therapies will be able to modify the natural history of boys with DMD. New dystrophin mutations will continue to occur, necessitating screening and early therapy. Abstract Submitted for Presentation at the 10th International Society for Neonatal Screening-Asia Pacific Regional Meeting, August 2017, Ulaanbataar, Mongolia. Muscle Nerve 57: 185-188, 2018.

Peter Becker and his Nazi past: the man behind Becker muscular dystrophy and Becker myotonia.

Peter Becker was a German neurologist who helped classify the muscular dystrophies, and described Becker muscular dystrophy and Becker myotonia. His involvement in National Socialism began in 1933, when he was compelled by his peers to join the SA (brown shirts). He later joined the Nazi party, the Nazi Doctors Association, and the Nazi Lecturers' Association. He renewed his SA membership to maintain his position at a genetics institute. Colleagues stated postwar that he was not an active Nazi, and he was de-Nazified in 1947, able to continue his career. Later, Becker admitted to most, but not all, of his Nazi memberships in his autobiography, and wrote 2 books exploring the origins of Nazism and racial hygiene. The "neurologic court of opinion" must weigh in on how we should best remember Becker, and at the very least, we as neurologists must learn the dangers of career opportunism at any cost.

Requiem.

"In never considering neuromuscular disease to be untreatable, Yves Rideau has found ways to ameliorate every aspect of these conditions. His work has resulted in immeasurably enhancing the quality of life of his patients". This dedication included into the Guide to Evaluation in Management of Neuromuscular Diseases, 1999, made by a coworker who studied in Poitiers from 1981 to 1983, summarizes the content of this paper.

Edward Meryon (1807-80) and Charles Darwin's (1809-82) On the Origin of Species.

London in the first half of the 19th century was a centre of scientific and medical interest. For example, the Royal Society, the Linnean Society, the Geological Society, the Chemical Society and the Royal Astronomical Society were all centred on Burlington House and, not far away, in Berner's Street was the Medical and Chirurgical Society, which in 1834 became the Royal Medical and Chirurgical Society and later the Royal Society of Medicine. It was also in this period that Edward Meryon became a member of the latter society and subsequently a Council Member, Librarian and Vice-President. His research led to the clear identification for the first time of the disease Duchenne muscular dystrophy and he published his results in the Transactions of the Royal Medical and Chirurgical Society in 1852.