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The ICD-10-GM coding system used in the German healthcare system only captures a minority of rare disease diagnoses. Therefore, information on the incidence and prevalence of rare diseases as well as necessary (financial) resources for the expert care required for evidence-based decisions by health insurers, care providers, and politicians are lacking. Furthermore, the missing information complicates and sometimes even precludes the generation of scientific knowledge on rare diseases. Therefore, starting in 2023, all in-patient cases in Germany with a rare disease diagnosis must be coded by an ORPHAcode using the Alpha-ID-SE file.The file Alpha-ID-SE links the ICD-10-GM codes to the internationally established ORPHAcodes for rare diseases. Commercially available software tools progressively support the coding of rare diseases. In several centers for rare diseases linked to university hospitals, IT tools and procedures were established to realize a complete coding of rare diseases. These include financial incentives for the institutions providing rare disease codes, systematic queries asking for rare disease codes during the coding process, and a semi-automated coding process for all patients with a rare disease previously seen at the institution. A combination of the different approaches probably results in the most complete coding.To get the complete picture of rare disease epidemiology and care requirements, a specific and unique coding of out-patient cases is also desirable. Furthermore, a structured reporting of phenotype is required, especially for complex rare diseases and for yet undiagnosed cases., (© 2022. The Author(s).)

We report three cases of severe olmesartan-associated chronic diarrhea with weight loss and malassimilation syndrome. Histologically, a sprue-like enteropathy was diagnosed in each case, while serological tests for celiac disease were negative. After stopping the medication, symptoms improved within a few days. Histologically, remission was documented after 3 months. Olmesartan-associated enteropathy is an underestimated entity and an important differential diagnosis in patients with chronic diarrhea.

In healthy children plasma ammonia concentrations show values from 12.3 to 57.2 mumol/l (80%-range) (group I). We also measured plasma ammonia in epilepsy patients with valproate therapy (group II) and epilepsy patients treated with other anticonvulsiva (group III). In a fourth group there were children with various cerebral lesions without episodes and without anticonvulsiva therapy. There were significant differences between group I and group II and group II and group IV respectively. But no significant differences were found between the patients who were treated with valproate and the patients with cerebral lesions. The data does not allow the plasma ammonia concentration to be taken as a control parameter in children treated with valproate. Ammonia estimation at the beginning of therapy, however, may be used as risk indicator.

A screening study for coronary disease, chronical bronchitis, diabetes mellitus, hypertension, peripheral circulatory disturbance and overweight is described. 2429 persons aged over 40 years and working in two factories were studied. Typical laboratory tests, a short standardised examination by a physician and a questionnaire were used. In a 10 per cent sample the questionnaire was repeated by an interview and the serum was sent to the laboratory not only by mail, but also by a special car transport in a cooled transport box. The results of the laboratory tests are presend according to age, sex and factory. The family doctor had to be informed in nearly 70 per cent of the men and about 60 per cent of the women because of at least one suspicious symptom or sign. There was a pathological value of glucose in the urine in 14.7 per cent, a rise of glucose in the blood (above 113 mg per cent) in 5.7 per cent, of triglicerides (above 181 mg per cent) in 12.6 per cent, of cholesterol (above 264 mg per cent) in 15.4 per cent, of uric acid (male above 7.7 mg per cent, female above 7.1 mg per cent) in 6.8 per cent, of creatinine (above 1.3 mg per cent) in 6.4 per cent and the presence of albumin in urine in 2.2 per cent of the cases.

The bulk of water and electrolyte absorption takes place in the human jejunum from isotonic solutions, and is determined largely by special transport mechanisms for different monosaccharides, amino acids and dipeptides. This is of considerable significance for regaining the large volumes of fluid delivered to the small intestine during the digestion of food. Small changes in intraluminal pH do not significantly influence the absorptive function of the jejunum and are rapidly compensated by the buffering capacity of the gut. The maintenance of an isotonic as well as neutral intraluminal milieu seems to be essential to the physiological processes of intestinal absorption.

The exactitude of some widely used laboratory tests (triglycerids, cholesterol, glucose, uric acid, creatinine) is examined in a situation relevant for practising physicians. Different statistical methods for reporting errors are compared. Accuracy and precision are useful measures for the quality of analytic procedures. They are not sufficient for medical judgement for a single patient, since sampling procedures, type of sample or transport and storage of sample are not considered in accuracy and precision. Such sources of error can largely devaluate the quality of accuracy and precision and of the analytic procedures. Error coefficients are proposed as a new method of reporting laboratory errors. The mathematical model starts with an analysis of variance and total error, technical error and transport error are defined. The study shows that the error introduced by transporting serum via postal service compared to that conveyed in a cooled transport box by a special car is considerable. It is nearly impossible for a physican to use single laboratory value for a rational decision "normal-not normal" if the values are based on samples which are sent by postal service and if the values lie in the broad borderline between the normal and pathological area. This is especially true for creatinine (transport error 47.0 per cent) and uric acid (transport error 38.7 per cent), but not so much for cholesterol (22.9 per cent), triglicerids (14.3 per cent) and glucose (13.3 per cent). Variables with high transport error like creatinine should not be used in screening programs, as long as the transport is made by postal service and the method is not improved. The agreements between the answers of a questionnaire and of an interview are analysed with the same patients (n=235). These agreements lie between 98.7 per cent and 61.7 per cent depending on the single question. The exactitude of medical questionnaires is in the same size order as the exactitude of laboratory tests-at least when the sample is sent by postal service.

Considering the multitude of tests in clinical chemistry and hematology, their low diagnositc sensitivity and specifity, and the low incidence of the diseases in a non selected population it is not possible presently to recommend a general screening procedure based on the definition of the reference, the methodological reproducibility and the diagnostic information of a test procedure it is possible to calculate the number of requests necessary to get any desired number of pathological results. "Tell me how many pathological results you want and I'll tell you how many requests you need". In order to get an optimal diagnostic information for clinical chemistry and hematological tests, it is necessary to increase the prevalence by proper selection of the patients and then to order test procedures specific for the suspected disease.

LP-X was investigated in the serum of 221 patients with and without cholestasis. The diagnostic sensitivity and the diagnostic specificity of the test were 0.9 and 0.88, respectively. When this test is used on a non-selected collective, however, the predictive value of the positive test is very low, whereas negative results have a high diagnostic value. Thus, in practice, LP-X is more suitable for the exclusion, rather than the detection of cholestasis.

The influence of the bacterial flora of the intestine and of cytostatic drugs on the intestinal xylose and glucose absorption in the rat is studied by a perfusion technique in vivo. Conventional, germfree and decontaminated animals show no different xylose absorption rates while the galactose absorption is decreased in germfree and decontaminated animals compared to conventional rats. Three days after a single injection of cytostatic drugs the xylose absorption is diminished in conventional and decontaminated animals compared to untreated rats. In germfree rats no effect of cytostatics on the xylose absorption can be proved. The galactose absorption is unchanged after cytostatics in conventional and decontaminated animals, but increased in germfree rats.