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Biomedical subjects

P Osterwalder

Publications and source records attributed to P Osterwalder.

15 recordsLinked to original sources

[Adult progeria (Werner's syndrome)].

HISTORY: A 48-year-old man was referred with progressive claudication and nocturnal pain at rest in the right foot. During the last few years exercise-induced pain, ulcerations and necroses had developed in both legs without any evidence of relevant macroangiopathies. The patient showed marked morphological changes. He had bilateral cataracts since aged 35 years. At 40 years he had undergone a transurethral resection of a bladder carcinoma. One of his brothers showed similar morphological changes, but they were absent in his parents and three siblings. INVESTIGATIONS: Radiology of the right foot revealed extensive para-osseous soft-tissue calcifications. Direct right femoral angiography demonstrated distal occlusions of the anterior and posterior tibial arteries as well as subtotal occlusion of the fibular artery. Routine laboratory tests were normal, as were all measured antibody titres. TREATMENT AND COURSE: The peripheral vascular disease, stage IV, of the right leg were presumably caused by adult progeria (Werner's syndrome). Percutaneous transluminal angioplasty (PTAP) of the distal fibular and, later, of the posterior tibial artery was performed, and prostacyclins, antibiotics and platelet-aggregation inhibitors were administered. Although the PTAP was technically successful, the state of the right foot remained critical, due to the existing microangiopathy and the impaired proliferation and healing capacity of the tissues as part of the adult progeria. CONCLUSIONS: The diagnosis of adult progeria is usually made because of the patients' characteristic morphology and typical concomitant diseases. The average age of patients at diagnosis is 37 years. The syndrome is caused by a helicase defect. This enzyme group unwinds double-helix RNA and DNA. Because the syndrome is rare and gene analysis is complex, it is unlikely that a commercial screening test will become available.

Angiography

[Check-up studies at an internal medicine polyclinic: reasons, diagnostic tests, results and therapeutic consequences].

Data of an investigation on initial motives for and outcome of so-called diagnostic check-ups are presented. Over a period of about one year a total of 82 persons applying for such a check-up have been investigated. Concrete reasons for this step were not given initially, however, elucidated in 87% of cases after special interrogation. Mostly fear of carcinoma or HIV-infection because of unspecific symptoms or diseases of family members or friends was reported. Clinical status and additionally arranged investigations (laboratory and others) revealed as a rule no further relevant pathological findings, thus, acting mainly to exclude rather than prove a disease. If motives for such check-ups could be elucidated in time, a more focussed, cost-effective investigation could be initiated, with more benefit for the patient and higher satisfaction for the physician. Such a screening consultation might represent furthermore a good opportunity to communicate preventive aspects to the patient.

Adult

[Number of diagnoses in the final report and in the medical record].

One hundred patient records of an internistic outpatient clinic were evaluated retrospectively for differences regarding the number of diagnoses in the documentation and the final report. Whereas the final or interim reports on the average contained 2.8 clinically relevant diagnoses, screening of the total documentation let the number rise to 3.5. Mainly the reports qualified as qualitatively poor led to overlooked or neglected relevant findings. Our results underline the importance of a meticulously kept medical record for a medical practice of high standards and responsibility.

Adolescent

[Evaluation of disability pensions by a medical polyclinic: 1990-1995].

The question if and in what manner changes of the labour market, in first line increasing unemployment, may influence the composition of the collective demanding a disability pension on one hand and the diagnoses relevant for assessment of requests on the other hand have been investigated as well as possible influences on the criteria for assessments. To this end all expert reports elaborated by the Medical Outpatient Clinic of the University Hospital of Zürich and submitted to the disability insurance between 1990 and 1995 have been evaluated retrospectively. The results show that the fraction of men remained stable around 70% over the whole observation period. The number of persons employed in auxiliary functions remained also constantly high. Over the whole period of observation there was a high, growing percentage of foreign applicants. The most marked change during the observation period was a significant increase of unemployment in the collective. This increase particularly affected applicants with higher ranking jobs or persons over 50. Foreigners became an important part of the unemployed applicants. Rheumatoid disorders and "back pain" in particular were of increasing importance among the relevant diagnoses for assessment of disability. There was a significant decline in the extent of invalidity acknowledged in marked contrast to our initial expectation that the strictness of the applied criteria would weaken when confronted with an increasing number of applications.

Adult

[Intermittent fever of unknown origin].

HISTORY AND CLINICAL FINDINGS: A 58-year-old woman was admitted because of intermittent fever for 4 weeks accompanied by slowly developing anaemia and increase in inflammatory parameters. She was being treated for hypertension with atenolol and chlorthalidone, but until 6 weeks before the onset of the described symptoms she had only taken the beta blocker, at which time the diuretic was added because the hypertension was inadequately controlled. Other than slightly impaired general condition and nocturnal fever up to 39.5 degrees C physical examination was unremarkable. INVESTIGATIONS: She had a normochromic normocytic anaemia and the erythrocyte sedimentation rate and C-reactive protein were clearly elevated. Other biochemical tests and blood cultures as well as serological and immunological tests were negative. Bone marrow biopsy showed nonspecific reactive changes. The chest radiograph, lung scintigraphy and abdominal ultrasound were unremarkable. TREATMENT AND COURSE: There was no further fever after the antihypertensive medication had been discontinued. The patient's general condition rapidly improved and all biochemical tests became normal. The lymphocyte transformation test demonstrated stimulation by chlorthalidone. CONCLUSION: Drug fever, in this case due to a sulphonamide derivative, should always be considered in the differential diagnosis of fever of unknown aetiology. No previous case of hypersensitivity reaction to chlorthalidone has been found on a search of the literature.

Antihypertensive Agents

[Livedo reticularis, acral necroses and renal failure. Cholesterol crystal embolisms].

In a 67 year old patient with multiple cardiovascular risk factors a livedo reticularis, ischemic acral lesions as well as deterioration of renal function five weeks after cardiac catheterism and aorto-coronary bypass surgery led to suspicion of cholesterol embolism. Fundoscopy revealed cholesterol crystals in retinal vascular branches thus delivering important diagnostic information. Atheromatous lesions of the entire aorta and the ilio-femoral arteries were possible sources for embolism. The outcome was favorable. The lesions of the toes regressed and renal failure did not progress to dialysis. The diagnostic steps taken, the clinical picture of cholesterol embolism, the use of imaging and therapeutic options are discussed.

Aged

[Abdominal pain and flatulence. Intestinal and pulmonary tuberculosis. IgG kappa paraproteinemia].

A 21-year-old woman suffered from cramplike abdominal pain, flatulence and occasional diarrhoea for about one year. Over the past few weeks the abdominal symptoms exacerbated, besides productive cough and subfebrile temperatures developed. Coloscopy revealed two isolated, short ulcers in the proximal colon. The histological examination of the biopsies taken from these ulcers indicated granulomatous inflammation. Moreover small acinar infiltrates in both pulmonary apices were visualized. The findings in this patient originating from Turkey were suspicious for intestinal and pulmonary tuberculosis. Though sensitive methods were used (Ziehl-Neelson stam, amplified M. tuberculosis direct test, a polymerase chain reaction) direct tests allowed no detection of mycobacteria. Antituberculous therapy was initiated on a probatory basis to which the patient responded well and promptly. The diagnosis was confirmed by culture results: M. tuberculosis was grown from colonic biopsies, morning sputa and bronchioalveolar lavage.

Abdominal Pain

[Ascites. Tuberculous peritonitis].

Because of deteriorating general health, weight loss of 5 kg and leftsided epigastric pain a 44 year old innkeeper was evaluated unsuccessfully for 1 month. Thereafter a protein- and lymphocyte-rich ascites developed. CT-scans revealed a thickened visceral peritoneum and multiple, marginally increased retroperitoneal lymph nodes. The history of the patient originating from former Jugoslavia was suspicious for inadequately treated tuberculous pericarditis. Hence this diagnosis tuberculous peritonitis became probable but for practical reasons could not be proven neither by biopsy nor by culture. Under probatory antituberculous treatment the patient's general condition improved rapidly, the ascites disappeared and initially elevated parameters for infection normalized.

Adult

[Fever, headache and weakness. Primary cytomegalovirus infection].

We report on an acute primary infection with cytomegalo virus in a 26 year old immunocompetent and hitherto healthy man. The course of the disease was characterized by prolonged febrile state, headaches, myalgias and markedly reduced general condition. Indicators leading to diagnosis were in view of otherwise unremarkable clinical findings, reactive lymphocytosis, mild splenomegaly as well as elevated transaminases interpreted as concomitant hepatitis. The evolution was benign under symptomatic treatment. The patient recovered rapidly and completely. The clinical picture of primary CMV infection in nonimmunosuppressed adults is discussed.

Adult

[Fatigue, general weakness, subcutaneous nodules].

A 58 year old female patient presented with subcutaneous nodules (adenocarcinoma on cytology) and general symptoms as first symptoms of advanced metastasizing cancer of the breast. The patient succumbed to metastatic disease and terminal bronchopneumonia a few months later. The path to diagnosis in a situation with diffusely metastasizing cancer, the differential diagnosis during evaluation and the rationale for the choice of investigations in a patient with far advanced metastasizing cancer but unknown primary site are discussed.

Adenocarcinoma