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Patients with congenital myopathy also run a great risk of insidious nocturnal hypoventilation buy zudena 100mg line, symptoms of which include sleep disturbance cheap zudena 100mg with amex, night- mares, morning headache, daytime fatigue, and weight loss. Nocturnal hypoventila- tion may occur even in the absence of diurnal symptoms. All patients with congenital myopathy should have a baseline evaluation of their respiratory status. Children with a vital capacity of less than 50% of their pre- dicted value should be evaluated at least annually. Evaluations include lung function testing (vital capacity, FEV1, and maximal inspiratory and expiratory pressures), waking and sleep oximetry and capnography, and an assessment of bulbar function. Respiratory infections should be treated early and aggressively, including antibiotics where indicated. Some children will require short-term assisted ventilation during intercurrent illness. The patient and their family should be educated with respect to the possibility of ultimate respiratory insufﬁciency and options for home mechanical ventilation. Indications for ventilatory support include CO2 retention (pCO2> 50 mmHg), chronic hypoxia (pO2 < 90 mmHg), very restricted vital capacity for size (less than 1 L in adults), and recurrent pneumonia. The preferred method of home mechanical ventilation will depend on the clinical status of the patient, the rate of progression and the natural history of the underlying disorder, and should be determined in con- junction with an experienced physician, the patient and their family. Options include bilevel positive airway pressure (BiPAP) by nasal or facial mask and tracheostomal ventilation if noninvasive means are not feasible. The institution of home ventilation may not be appropriate in all cases. Aggressive management is commonly more appropriate for the older child, for whom assisted ventilation will often result in marked improvement in quality of life. Feeding Difﬁculties Inability to feed sufﬁciently to sustain weight and growth, necessitating gavage feed- ing, is common in newborn infants with congenital myopathy. In others persisting feeding difﬁculties even- tually necessitate insertion of a gastrostomy tube, with or without fundoplication. In older patients bulbar dysfunction can cause chewing and swallowing difﬁculties and recurrent aspiration, and in combination with facial weakness may cause dysarthria and poor control of secretions. Ideally, such a program should become integrated into the child’s day-to-day activities. Orthotics, splinting and serial casting may be necessary for mild joint contractures. Surgical release may be indicated for contractures that do not respond to aggressive physiotherapy. All patients with congenital myopathy should be monitored for the develop- ment of scoliosis and kyphosis. Progressive spinal deformity can cause pain, impede motor function and independence, and further compromise respiratory function. Spinal bracing does not cor- rect, prevent or reverse spinal curvature but may improve sitting stability and is an option in nonambulatory children. Surgery is indicated if the curve is progressing, pulmonary function is impaired, and spinal fusion is unlikely to impair motor func- tion. The most important factors related to the timing of surgery are a persisting degree of ﬂexibility of the spine and a stable pulmonary forced vital capacity that is more than 30% predicted value. PROGNOSIS Most of the congenital myopathies are static or slowly progressive disorders. Man- agement of these conditions is predicated on prediction and prevention of disease complications. Over the next few years, it is likely that genetic loci for the majority of congenital myopathies will be identiﬁed, in the ﬁrst step towards a better under- standing of the pathogenesis of these disorders, and the development of curative rather than symptomatic therapies. INTRODUCTION Spinal muscular atrophy is a term applied to both a speciﬁc and common disorder, and to a group of related but individually rare disorders. The speciﬁc, common dis- order is also known as childhood spinal muscular atrophy, proximal spinal muscular atrophy, and historically has been broken up into several subgroups labeled SMA 1 (Werdnig Hoffmann disease), SMA 2 (intermediate childhood SMA), and SMA 3 (Kugelberg Welander disease). All of these labels refer to a recessively inherited genetic disorder caused by mutation of the survival motor neuron gene, SMN. The group of disorders collectively known as the spinal muscular atrophies (Table 1) is diverse in many respects. Some are well characterized genetically by deﬁned muta- tions in known genes, some are clearly genetic from their inheritance pattern but as yet involve unknown genes, and others affect single patients in a manner that suggests a genetic etiology that yet remains unproven. Both the speciﬁc SMN-related SMA and the broad range of SMA disorders share in common certain clinical features including slow progressive, symmetric and often diffuse weakness caused by degen- eration of the primary motor neurons. Symmetric dysfunction and degeneration of spinal and bulbar motor neurons may be a feature of other disorders (Table 2). SMN-RELATED SMA Clinical Appearance and Diagnosis Affected individuals initially manifest weakness over a range of ages beginning pre- natally to young adult years or possibly later. Infants with the common, and well recognized, type 1 SMA (Werdnig–Hoffmann disease) typically are normal at birth but develop weakness of limbs, trunk and neck in the ﬁrst few months of life. The arbitrary division of type 1 from type II SMA involves the inability to maintain, at any point in the course, an independent sitting position. Infants with type I SMA often have a bright and intelligent appearing face, particularly of the eyes, a strong diaphragm, and normal tone of the anal sphincter but weakness diffusely else- where. A ‘‘frog leg’’ recumbent posture with the legs fully externally rotated, knees and hips partially ﬂexed, arms internally rotated at the shoulder and often extended 191 192 Crawford Table 1 Potential Mimics of Spinal Muscular Atrophy Brain Degenerative disease Hypotonic cerebral palsy Congenital Myotonic Dystrophy Prader Willi syndrome, other genetic disorders a Spinal cord=column Trauma Structural disorders: e. In this form of SMA tongue ‘‘fasciculations’’ are common, but by itself this is a nonspeciﬁc feature that often leads to diagnostic error. Infants and children with type II SMA typically manifest weakness at a later age, usually prior to 18 months of age.
If you’re dealing with very sensitive informa- tion which you know could be called upon by a court of law trusted zudena 100mg, you will need to inform your participants that you would be obliged to hand over the information cheap zudena 100 mg fast delivery. OVERT AND COVERT RESEARCH Overt research means that it is open, out in the public and that everyone knows who you are and what you are doing. Covert research means that you are doing it under cover, that no one knows you are a researcher or what you are doing. In my opinion covert research should be kept to a minimum – there are enough journalists and television personalities doing this kind of undercover, sensationalist work. Covert research In the past researchers have justiﬁed their covert work by 148 / PRACTICAL RESEARCH METHODS saying that it has been the only way to ﬁnd out what goes on in a particular organisation that would not otherwise let a researcher enter. Such work has been carried out within re- ligious cults and within warring gangs of young people. However, this type of research can have serious implications for the personal safety of the researcher and the people with whom she comes into contact. It can also give research a bad name – other people may read about the work and be- come suspicious about taking part in future projects. Overt research I believe researchers should be open and honest about who they are and what they’re doing. People can then make an informed choice about whether they take part in a project. It is their prerogative to refuse – nobody should be forced, bullied or cajoled into doing something they don’t want to do. If people are forced to take part in a research project, perhaps by their boss or someone else in a position of authority, you will soon ﬁnd out. They will not be willing to participate and may cause problems for you by oﬀering false or useless information, or by dis- rupting the data collection process. Wouldn’t you do the same if you were forced to do some- thing you didn’t want to do? This means that not only should you be open and honest about who you are and what you’re doing, but so should those who open the gates for you, especially those who are in a position of authority. HOW TO BE AN ETHICAL RESEARCHER/ 149 EXAMPLE 14: STEVE It was the ﬁrst project I’d ever done. I wanted to ﬁnd out about a new workers’ education scheme in a car factory. One of my tutors knew someone in charge of the scheme and that person arranged for me to hold a focus group in the factory. This meant that the person in charge of the scheme chose the people for the focus group. I was really pleased because it meant I didn’t have to do a lot of work getting people to come. Of course I soon found out that he’d chosen these people for a particular rea- son, and he’d actually told them that they had to attend, that there was no choice involved. When I turned up to hold the group, no one had been told who I was and what they were doing there. When I started to introduce myself some of the workers looked a bit uneasy and others just looked plain deﬁant. It was only after the group that I spoke to someone who said that they’d all thought I was a ‘spy’ for the company and that some had decided to give the ‘company line’ on what the scheme was all about, whereas others had decided not to say anything. She said that really they didn’t believe a lot of what had been said, but none of them dared say anything diﬀerent as they thought I was going to go straight to management with the results. I felt that the information I collected wasn’t very useful in terms of my research, but it was useful in terms of getting an idea about employer-employee relations. If you are relying on someone else to ﬁnd participants for you, it is important that you make sure that that person 150 / PRACTICAL RESEARCH METHODS knows who you are and what you’re doing and that this in- formation is then passed on to everyone else. A useful way to do this is to produce a leaﬂet which can be given to any- one who might be thinking about taking part in your re- search. This leaﬂet should contain the following information: X Details of who you are (student and course or employ- ee and position). X Information about who has commissioned/funded the research, if relevant. X Information about the personal beneﬁts to be gained by taking part in the project. This section is optional, but I ﬁnd it helps to show that people will gain person- ally in some way by taking part in the research. You might oﬀer further informa- tion about something in which they are interested, or you might oﬀer them a copy of the ﬁnal report. Some consumer research companies oﬀer entry into a prize draw or vouchers for local shops and restaurants. CODE OF ETHICS Once you have been open and honest about what you are doing and people have agreed to take part in the research, it is useful to provide them with a Code of Ethics. The best time to do this is just before they take part in a focus HOW TO BE AN ETHICAL RESEARCHER/ 151 group or interview, or just before they ﬁll in your ques- tionnaire. The Code of Ethics supplies them with details about what you intend to do with the information they give and it shows that you intend to treat both them and the information with respect and honesty. It covers the following issues: X Anonymity: you need to show that you are taking steps to ensure that what participants have said cannot be traced back to them when the ﬁnal report is produced. How are you going to make sure it is not easily accessible to anyone with unscrupulous intentions? If not, how will you ensure that what someone says cannot be used against them in the fu- ture? However, you must be careful not to make pro- mises that you cannot keep. X Conﬁdentiality: you need to show that information sup- plied to you in conﬁdence will not be disclosed directly to third parties.
Many trophies of his skill decorated the walls of his home generic zudena 100 mg online, and he had much pleasure in showing them to his guests and in talking about his hunting trips discount zudena 100mg without prescription. The height of the worldly success was attained through connections he made with various Indian rajahs and princes, beginning in 1932 when the nephew of the Nizam of Hyderabad, and former Emil D. HAUSER premier of that country, came to Vienna seeking relief from a disability of the elbow. Adolph Lorenz wrote about this in his autobiography, My Emil Hauser was born on February 22, 1897, in Life and Work, as follows: “I am afraid that my Freeland, Pennsylvania, the seventh of ten excellent pupil knew better how to perform the children, the son of Reverend Karl Hauser and operation than to ask a fee worthy of the occa- Wilhelmina Volkert. He was educated at the sion, which would have freed him from care for University of Minnesota, where he received his the rest of his life. In 1934 he was invited to make American–Scandinavian Fellowship in Orthope- a trip to India and while there he operated on dic Surgery and spent the year of 1925–1926 vis- several maharajas and Indian princes. Hass did not feel able to adjust his life ued interest in the conservative treatment of low- and that of his family to the customs and climate back problems, scoliosis, and talipes. It is needless to He returned to the United States in 1926 and say that both trips offered Hass the opportunity of was accepted as a ﬁrst assistant and permanent indulging his favorite pastime of hunting. In 1927 he 129 Who’s Who in Orthopedics received his MS degree in orthopedic surgery and was a devoted husband to his wife, the former moved to Chicago, Illinois, taking a position as Mary Frances Thomas, whom he married on July Assistant Professor with the University of Illinois 28, 1930, and who survived him. In produced ﬁve children, two of whom are physi- 1930 he became an Attending Surgeon at Passa- cians. Three nephews are physicians as well, two vant Hospital in Chicago and an Assistant Pro- of them practicing orthopedic surgeons. Besides fessor of Bone and Joint Surgery at Northwestern his good fortune in choosing his wife, Dr. He maintained these afﬁliations was lucky to have outstanding women supporting for the rest of his professional life, ﬁnally retiring him in his practice. His sister Adele Hauser in 1965 as Associate Professor Emeritus in North- Donlin and physical therapists Mildred Elson and western’s Orthopedic Department. He maintained especially Louise Reinecke were vitally impor- a busy and successful practice in Chicago and tant to him. Emil Hauser died at the age of 85 in Sun liosis culminated in his book Curvatures of the City, Arizona, on November 18, 1982, of coro- Spine, published in 1962, and his continued nary heart disease. He rowed against the stream of surgical inter- Clopton HAVERS vention in many orthopedic problems, and his conservative approach to bone and joint disease 1657–1702 was uniquely his own. The Hauser bar for treat- ment of pes valgo-planus, the Hauser brace for The name of Clopton Havers has been associated treatment of talipes equinovarus, and the treat- for 160 years with the spaces or canals that tra- ment of scoliosis by progressive recasting are verse the compact bone tissue. In view of the fact some of his original contributions to the treatment that Haversian canals are known to every student of bone and joint disease. He added to surgical of anatomy, it is somewhat surprising that so little treatment as well with an operation for correction is known about the man who described them. Hauser was an active advisor for orthope- for a time to the Earl of Warwick and was vicar dics for the National Foundation for Infantile of Chipping Ongar about the year 1643. He was Paralysis, and served on the medical advisory later appointed minister at Fiﬁeld (1649–1650) board for the Chicago chapters of both the and rector of Stambourne in 1651. After the National Multiple Sclerosis Society and the restoration of Charles II in 1662, he was ejected United Cerebral Palsy Association. Morton honors and appointments came to him, includ- was also a nonconformist divine and he had ing membership in the American College of served as chaplain at New College, Oxford. He Surgeons, the American Board of Orthopedic was forced to give up his clerical post when the Surgery, and the Clinical Orthopedic Society. In Act of Uniformity was passed in 1662 and he 1958 he served as Chief of Staff of the Passavant then entered the medical profession. Morton, therefore, that Clopton ing acknowledgment of his great debt to his Havers was most indebted in the early stages of former tutor: his career. In 1668 he was enrolled as a student at Catharine Hall, Cambridge, and he studied there I do therefore, as an expression of that Respect and for a time. He left the university, however, Gratitude which are due from me, humbly present you without taking a degree and the next known fact with these Discourses: and although I shall never be able to satisfy that Debt which I have contracted; yet of his life is that on July 28, 1684, he was ad- this will be a demonstration of my inclinations to be mitted as an Extra-licentiate of the College of Just and Grateful. This meant that he had ble how far I am in Justice bound to render to you that, authority to practice medicine anywhere in which is an account of the Talent, which you, Sir, have England except in the city of London or within 7 intrusted me with, and so far as I am capable, taught miles of it, with the further proviso that he could me to improve. The book was very well received both in In the following year, 1685, Havers, according to England and on the continent, and three editions the “Album Studiosorum,” was enrolled as a in Latin (Frankfurt 1692, Amsterdam 1731, and student at the University of Utrecht and presented Leyden 1734) are some evidence of the esteem a thesis entitled “De Respiratione,” which gained with which it was regarded. Lilly Butler, Minis- him the degree of Doctor of Medicine of that uni- ter of St. This work was dedicated to his father and work in the sermon that he delivered at the funeral to Richard Morton. Baglivi, Havers received the distinction of being elected a when he stood for Anatomy Professor in the Fellow of the Royal Society and he was admitted Sapienza at Rome, took his Lecture. Constituent Parts, and Internal Structure of the Hands being put in nomination for reading of the Bones”; October 30 and November 13, 1689, same. Havers was chosen for three years to “The second Discourse of Accretion and Nutri- read on the second Tuesday, Wednesday and tion”; January 29, 1689, “The third Discourse of Thursday in July next by three of the clock in the the Marrow”; November 20 and 27, 1689, “The afternoon and to have thirty shillings for his pains fourth Discourse of the Mucilaginous Glands”; and the remainder to be disposed of by the Com- August 13, 1690, “The ﬁfth Discourse of the Car- mitte. John Gale, who left an annuity of book in 1691, under the title Osteologia nova, or £16 to the Company of Barbers and Surgeons for some Few Observations of the Bones, and the this purpose, and as the records do not show the Parts belonging to them, with the manner of their appointment of any previous lecturer, Dr. The records do Richard Morton, in which he makes the follow- not reveal how they disposed of the rest of the 131 Who’s Who in Orthopedics money. Tyson” (who from the register in Willingale Church, the writer had recently retired). Howell: “Clopton Havers, MD, was buried April This is entitled “A short Discourse concerning 29th, 1702, in what was made of sheep’s wool Concoction” and it appeared in the Philosophical only and afﬁdavit thereof made and delivered the Transactions of the Royal Society in 1699 (vol.
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