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Biomedical subjects

A E Emery

Publications and source records attributed to A E Emery.

At least 19 recordsLinked to original sources
PubMed2000

Emery-Dreifuss muscular dystrophy - a 40 year retrospective.

Emery-Dreifuss muscular dystrophy (EDMD) was delineated as a separate form of muscular dystrophy nearly 40 years ago, based on the distinctive clinical features of early contractures and humero-peroneal weakness, and cardiac conduction defects. The gene, STA at Xq28, for the commoner X-linked EDMD encodes a 34 kD nuclear membrane protein designated 'emerin', and in almost all cases on immunostaining is absent in muscle, skin fibroblasts, leucocytes and even exfoliative buccal cells, and a mosaic pattern in female carriers. The gene, LMNA at 1q21, for the autosomal dominant Emery-Dreifuss muscular dystrophy encodes other nuclear membrane proteins, lamins A/C. The diagnosis (at present) depends on mutation analysis rather than protein immunohistochemistry. It is still not at all clear how defects in these nuclear membrane proteins are related to the phenotype, even less clear that LMNA mutations can also be associated with familial dilated cardiomyopathy with no weakness, and even familial partial lipodystrophy with diabetes mellitus and coronary heart disease! What began as clinical studies in a relatively rare form of dystrophy has progressed to detailed research into the functions of nuclear membrane proteins particularly in regard to various forms of heart disease.

Humans↗
PubMed1996

Genetic disorders in portraits.

Many artists have depicted genetic disorders in portrait paintings. In some instances such disorders can be identified in self-portraits, most notably the tetralogy of Fallot in the Dutch painter Dick Ket, or in portraits of the famous, such as the Habsburg jaw in the Emperor Charles V. But it is in other portraits that most examples can be found, such as the different types of dwarfism depicted by Velázquez. A table listing over 70 examples is provided.

Famous Persons↗
PubMed1994

Some unanswered questions in Duchenne muscular dystrophy.

Though the molecular and biochemical bases of Duchenne muscular dystrophy are known, many questions still remain unanswered. They range from the nature and cause of gene deletions to the relationship between dystrophin defects and the clinical phenotype, both in affected males and female carriers. These questions are discussed in the light of recent developments.

Dystrophin↗
PubMed1994

Genetics in art.

Explore the source record for details and available documents.

Dwarfism↗
PubMed1994

Communication with parents of children with cancer.

The purpose of this study was to assess the receptiveness of parents to information given about their child's life threatening illness. Three months after the child's diagnosis, an independent interviewer, using a structured questionnaire, interviewed the parents about what and how they had been told, and assessed the stage of parental coping reached at that time. All patients were treated at a regional paediatric oncology centre (RHSCE) and the interviews were conducted preferably in the family home (61%), or in a 'quiet' hospital room (39%). Twenty-five, unselected, consecutive patients with cancer and leukaemia diagnosed and treated at the RHSCE and their families were recruited into the study (1988-1989). One child died during the first three months and one single parent family refused co-operation. Eighteen of the 23 interviews conducted were with both parents, and five were with single parents (all maternal). All 23 sets of parents admitted deep shock and devastation on hearing the initial diagnosis, with 12 sets feeling that they had taken in little or none of the information given. A long interview was conducted a few days after the initial talk with the consultant. The parents of four children (17%) denied that the long interview had occurred whilst 10/19 who remembered it expressed specific lack of understanding of some or all details. All families remembered a large number (10-20) of subsequent talks with a wide range of staff, but 14/23 felt that some of the information was still confusing or conflicting, and 9/14 did not want to ask for further clarification, principally because they did not want to hear more bad news. The majority felt the child understood little of what was going on. At the study interview, most parents were assessed as still being very anxious about their child's illness, whilst two couples, one single mother and one father, were content with what and how they had been told about their child's illness and were in a state of emotional homeostasis. It is concluded that communication of bad news is a two-way process requiring skilled medical staff, but also a receptive audience. The emotional state of the parent determines his or her ability to hear and comprehend the information given. The results imply that repetition and clarification at consultation interviews is required until parents are emotionally able to hear, accept and comprehend complex news. Written material, taped interviews and simple videos can assist in this process.

Adaptation, Psychological↗
PubMed1993

Duchenne muscular dystrophy--Meryon's disease.

In a communication to the Royal Medical and Chirurgical Society of London in December 1851, which was published in the Transactions of the Society the following year, Edward Meryon, an English physician, described, in considerable detail, eight boys in three families with a disease later referred to as Duchenne muscular dystrophy. He was particularly impressed by the predilection for males and its familial nature, and that the progressive muscle wasting and weakness was essentially due to a disease of muscle and not the nervous system. His detailed histological studies revealed no abnormality of the spinal cord or nerves but in muscle tissue he noted extensive "granular degeneration" and in particular that the sarcolemma was broken down and destroyed. He appears to have been the first physician to make a detailed clinical, genetic, and pathological study of the disorder several years before Duchenne.

England↗
PubMed1993

Edward Meryon (1809-1880) and muscular dystrophy.

Edward Meryon was an English physician of Huguenot stock. He studied medicine at University College, London, and his chief appointments were at St Thomas's Hospital and the London Infirmary for Epilepsy and Paralysis. In a communication to the Royal Medical and Chirurgical Society in December 1851, which was published in the Transactions of the Society the following year, he described in detail eight boys in three families with a disease later to be associated with the name of Duchenne. He was particularly impressed by the predilection for males and its familial nature. He appears to have been the first physician to make a systematic study of the disorder some years before Duchenne.

Egypt↗
PubMed1991

Population frequencies of inherited neuromuscular diseases--a world survey.

A survey of the world literature, involving over 150 reported studies, of the population frequencies of various inherited neuromuscular diseases has been carried out. Data are presented for the commoner forms of muscular dystrophy (Duchenne, Becker, facioscapulohumeral, limb girdle), myotonic dystrophy and congenital myotonias, proximal spinal muscular atrophies, and the hereditary motor and sensory neuropathies. A conservative estimate of the overall prevalence among both sexes is around 286 x 10(-6), that is 1 in 3500 of the population may be expected to have a disabling inherited neuromuscular disease presenting in childhood or in later life. If severe disorders manifest only in infancy and early childhood (e.g. Werdnig-Hoffmann disease and severe congenital muscular dystrophy) and the rare forms of dystrophy and myopathy are also included, then the overall prevalence could well exceed 1 in 3000.

Humans↗