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[Duchenne-type muscular dystrophy: problems, early diagnosis, early treatment (author's transl)].

The aetiology and pathogenesis of the Duchenne-type muscular dystrophy (pseudohypertrophic muscular dystrophy) are still largely unknown. The possibilities of treating the disease are rather limited. Treatment is the more successful, the earlier diagnosis was possible, and the earlier treatment is initiated. The CK-Screening Test is an important aid for early diagnosis. The CK-Screening Test is also valuable for genetic consultation and advice, because it helps to identify women who are conductors or carriers of the disease. Current hypotheses on aetiology and pathogenesis are mentioned. Progress made in the fields of biochemistry, including enzyme histochemistry, and electron microscopy, raise hopes of finding more efficient therapeutic possibilities in the future. The many interests of patients with muscular diseases are being looked after by the European Alliance of Muscular Dystrophy Associations (EAMDA). Thirteen European associations are members of this organisation, including the German association "Bekämpfung der Muskelkrankheiten e.V." The number of sponsoring members of the EAMDA is at present about 300,000. 3 international congresses have already been held on the problems of muscular diseases. The fourth congress is scheduled to take place in Montreal in 1978.

Cell- and Tissue-Based Therapy

The mouse inoculation test in rabies diagnosis: early diagnosis in mice during the incubation period.

Brain tissue from 64 rabies suspect specimens were inoculated intracerebrally into twenty 9-12 gm adult Swiss white mice. Two mice from each specimen were killed on specific days postinoculation and examined for the presence of rabies virus by the fluorescent antibody staining technique. In this way a positive diagnosis was made in the majority of cases between postinoculation days 4 and 12 when the incubation period of these same specimens ranged between eight and 20 days.

Animals

Hypersensitivity lung disease: early diagnosis.

The early diagnosis of hypersensitivity lung disease (HLD) is important because of its progressive morbidity. It is often difficult to establish the diagnosis in the early stages because of the absence of defined symptoms. Case histories of 2 patients with pigeon breeder's HLD are reported. Both patients presented with unusual manifestations of the disease: one patient was asymptomatic but had an abnormal chest radiograph; the other patient had a normal chest radiograph but experienced occasional symptoms of exertional dyspnea. Both patients had abnormal pulmonary function and precipitin bands against pigeon serum. Following inhalation challenge with pigeon serum both patients developed fever and leukocytosis, but no significant pulmonary function response was observed. In both patients pulmonary function tests returned to near normal levels after corticosteroid therapy. Early detection of HLD may prevent progressive irreversible pulmonary damage. This requires a high index of clinical suspicion and appropriate screening tests. Inhalation challenge procedures are useful in establishing the diagnosis.

Aerosols

Child abuse: an approach for early diagnosis.

The importance of early diagnosis in child abuse cases has long been recognized and its importance, as well as the potential sequelae of undiagnosed abuse, is addressed here. Because the family physician is in the unique position of treating a family as a unit, he/she has access to a variety of data that should aid in early identification of child abuse cases. By drawing on studies detailing profiles of the abusing parent, the abused child, their interactions, and the injuries associated with child abuse, a model for such early diagnosis is presented.

Adult

[Various technical diagnosis problems in the early diagnosis of parathyroid dysfunctions].

During the last years the functional diagnostics of the parathyroid glands has been considerably enlarged. Nevertheless, the results concerning an early recognition of conditions of hypofunction and hyperfunction are up to now unsatisfying. Despite of the increasing diagnostic importance of the direct determination of the parathormone which is at first available only in special institutions in these cases methodical problems play a less important part than the still not infrequent appearing misunderstanding of the adequate basic disease. The without doubt great variability of the clinical phenomenology of the parathyreogenic dysfunctions is particularly to be established in their initial stages. The demonstrated processes of investigation apart from the description of complexes of diagnostic problems summarize the experiences of many years of a treatment of outpatients directed to the forms of disturbances of the parathyroid glands.

Diagnosis, Differential

What is early diagnosis doing?

Programs for the early detection of cancer in the past have been beset with problems of low yield, inability to recruit high risk populations, poor utilization of physicians, and inadequate end results evaluation. Nevertheless, for twelve forms of cancer representing 80% of all cancers and 70% of all cancer mortality there is a useful form of early detection or prevention. Furthermore, the ultimate benefit of early diagnosis to patients is supported by long-term relative survival rate studies, and for certain forms of cancer by reduction in mortality rates as well. Efforts are now underway to develop risk factor detection programs which will overcome some of the aforementioned problems. One such program is the risk factor analysis project, operating in the CANSCREEN clinics, which was designed to detect high risk indicators for cancer which are amenable to intervention by primary prevention or diagnosis and treatment. A triage system with linkages to comprehensive cancer centers has been established and a medical information system prepared for centralized statistical and epidemiological studies. The clinics are operated entirely by nurse examiners and health educators. Results of pilot studies are encouraging with regard to the feasibility of implementing such programs.

Age Factors

[Organization of the early diagnosis of the carcinoma corporis uteri].

The problems in early diagnosis of endometrial cancers are not sufficiently solved. Only atypical bleeding with subsequent curettage will result in success. At this time progredient carcinomas are frequent and the chance of recovery is small. Therefore a screening program of early diagnosis by small biopsy is developed and clinically proved.

Age Factors

[The value of infrared and plate thermography in the early diagnosis of mastocarcinoma (author's transl)].

The inspection and palpation of the breast remains the basis of every breast examination. However, genuine early diagnosis of carcinoma of the breast cannot be achieved by clinical examinations without any supporting investigation. It must be borne in mind that such early diagnosis is the aim of every medical checkup for cancer. This fact has resulted in the development of novel examination methods employing suitable apparatus. The value of mammography is beyond dispute. Since it is the safest of all examination methods as far as accurate results are concerned, mammography makes a decisive contribution toward improving the success rate of early diagnostics. The present paper aims at emphasizing the value of thermography in diagnostics, especially in the early diagnosis of mastocarcinoma. Such a valuation becomes possibly by checking all thermographic findings with the help of mammography. As a result, it must be stated that both infrared thermography and plate thermography can only be additional examination methods in support of mammography in order to discover clinically occult carcinomas within the framework of preventive care examinations.

Breast Neoplasms

[Cerebral palsy--early diagnosis and treatment (author's transl)].

The main aim of the present Conference has been to debate that early diagnosis and treatment of cerebral palsy. The Conference was attended by specialists taking care of the child with cerebral palsy (C.P.): child neurologists, surgeons--orthopedists, psychologists, rehabilitants, pediatricians. In connection with the fact that the Conference was devoted to the early diagnosis and therapy of C.P., problems concerning the lower age groups of children were debated. The Conference discussed the definitions of "cerebral palsy" used in the literature, the clinical forms, the auxiliary diagnostic methods and their significance in the diagnosing of this pathological syndrome. Early clinical symptoms, enabling to establish the diagnosis of cerebral palsy were particularly extensively debated. In the latter problem particular attention was paid to the diagnostic value of kinetic automatisms of the group of tonic posture reflexes and dysfunctions of the kinetic pattern in children. It was underlined in the debate the C.P. was no separate clinical disease, but a pathological syndrome arisen as a result of the negative influence of different factors and yielding very diverse clinical and neurolopathologic symptoms, according to the kind of noxious factors and the period and degree of maturity of the nervous system in which they acted. The participants in the debate also sressed that, as the child develops and is observed for a longer period it is fairly often necessary to check this diagnosis, as C.P. may prove, as the time passes, to be a degenerative syndrome, a pressure syndrome etc. The psychologists participating in the Conference discussed the psychological problems of the child with C.P. and also the early diagnosis of the pathological syndrome debated. The diversity of the symptoms of the C.N.S. in children suffering from C.P. was underscored, as--apart from dysfunctions within the kinetic area, there can be present sight, hearing and speech dysfunctions, those of sensory perceptions and mental development. These children require multispecialist care, as everyone of dysfunctions mentioned may present a complicated diagnostic problem. Plenty of place was devoted to the discussion of problems connected with epilepsy in children with C.P. Also extensively debated were the general principles of the medical procedure in children with C.P. As a result of the discussion it was decided that children with severer forms of C.P. and those from poor social conditions should be subjected to long-lasting sanatorium rehabilitation. Keeping the child in its family environment should, however, be the generally adopted principle of the rehabilitation of a little child. The parents of the child should be trained in the proper rearing of the child under household conditions, a manner to secure all the needs resulting from the then stage of its development. In connection with this problem the project of the programme of sensoric-and-kinetic rehabilitation was debated, as presented by psychologists and rehabilitants (kinesitherapeuts).

Age Factors

[Inflammatory intestinal diseases: ulcerative colitis and Crohn's disease. Early diagnosis and treatment].

Early rather characteristic symptoms are found in ulcerative colitis as well as in Crohn's disease. In these patients, but also in an advanced stage, differential diagnosis between these two disorders is possible by means of endoscopic techniques and guided biopsy. In a high percentage of patients with ulcerative colitis good results are obtained with conservative therapy, using salazopyridine alone or in combination with cortisone. Combination therapy with salazopyridine and cortisone seems to offer the best results in Crohn's disease too, however, in a certain percentage of cases surgical intervention is unavoidable.

Adrenal Cortex Hormones

[Initial X-ray manifestations of bronchial carcinoma. Possibilities and limitations of early diagnosis (author's transl)].

Problems of defining "early diagnosis" and difficulties, arising from multiform clinical and radiological manifestations in bronchial carcinoma are discussed. Different types of manifestations offer unequal chances for early detection. In demonstrating some typical cases, auxiliary diagnostic means and possibilities for more efficient radiological diagnosis are discussed.

Aged

Acute superior mesenteric arterial occlusion: a plea for early diagnosis.

Acute mesenteric arterial occlusion is a curable disease, provided it is diagnosed and treated before irreversible changes occur in the ischemic bowel. Forty patients treated for proven mesenteric arterial occlusion were evaluated retrospectively in an effort to broaden the existing criteria for early diagnosis. Twenty-three patients suffered from mesenteric thrombosis and 17 sustained embolic occlusion of the superior mesenteric artery. The overall mortality rate was 77.5% (31 of 40 patients). Three patients survived without bowel resection. The appearance of acute abdominal pain accompanied by profuse cold sweating in a cardiac patient with apparently normal abdomen, hyperactive bowel sounds, and a history of embolic events should always raise the suspicion of acute mesenteric ischemia and should be verified immediately by mesenteric angiography. A high index of suspicion, aggressive measures for early diagnosis, and early operative treatment are presently the only possibilities to provide a better outcome.

Acute Disease

Xenon ventilation-perfusion lung scans. The early diagnosis of inhalation injury.

The use of xenon Xe 133 ventilation-perfusion lung scans for the early diagnosis of inhalation injury was evaluated in 67 patients with acute thermal burns. Study results were interpreted as normal if there was complete pulmonary clearance of the radioactive gas by 150 seconds. Thirty-two scans were normal, 32 abnormal, and three technically inadequate. There were three true false-positive study results and one false-negative study result. Good correlation was found between the scan results and various historical, physical, and laboratory values currently used to evaluate inhalation injury. The scans appeared to be the most sensitive method for the detection of early involvement, often being abnormal several days before the chest roentgenogram. Xenon lung scanning is a safe, easy, accurate, and sensitive method for the early diagnosis of inhalation injury and has important therapeutic and prognostic implications as well.

Acute Disease

Electron microscopy in the early diagnosis of genetic disorders of the skin.

Electron microscopy is shown to represent an effective tool in the early diagnosis of genetic disorders. On the basis of ultrastructural findings in various dominant and recessive types of ichthyoses and epidermolyses, defects of structural proteins of the skin proved to form the main intrinsic pathogenetic feature of some dominantly inherited types whereas quantitative impairments characterize their closely resembling recessive counterparts. Most of the diseases concerned severely disable the involved patients. Early diagnosis is therefore of high importance. In those cases where an exact diagnosis in newborn children is difficult or impossible with respect to their clinical features, electron microscopy provides the clinician with reliable and significant criteria to differentiate between closely resembling entities.

Epidermolysis Bullosa