Triosephosphate-Isomerase Deficiency: Epiphenomenon or Cause of Loin Pain Haematuria Syndrome?

A 32-year-old male patient presented the clinical picture of loin pain haematuria syndrome with pain attacks accompanied by macrohaematuria. In renal biopsy, the preglomerular vessels showed segmental wall hyalinosis in the sense of low-grade nephrosclerosis, and glomerular capillaries with slightly but diffusely thickened, non-split basal membranes on electron microscopy. Notable were irregularly deformed, different dense erythrocytes in the glomerular capillaries, and several tubular lumina. The suspicion of erythrocytic enzyme deficiency could be confirmed. The enzyme activities of the erythrocytes were predominantly normal or slightly increased; only the activity of triosephosphate isomerase, a critical key enzyme of glycolysis, was reduced to 71% (resp. 57%) of the normal level, compatible with a heterozygous carrier status that could not be found. Patients with genomic triosephosphate-isomerase deficiency have degraded enzyme activities in virtually all tissues, such as leucocytes, platelets, and muscle cells. An association with neuromuscular symptoms is also known. Thus, it is possible that smooth muscle and intrarenal vascular spasms trigger clinical symptoms consisting of flank pain and phases of macrohaematuria. An aspirin-like defect (thrombocytopathy) had previously been found in connection with epistaxis (also due to TPI deficiency?). Enalapril treatment drastically reduced the frequency of macrohaematuria and pain attacks decreased to a lesser extent.

Decision aid and cost compensation influence uptake of PSA-based early detection without affecting decisional conflict: a cluster randomised trial.

International guidelines recommend to inform men about the benefits and harms of prostate specific antigen (PSA) based early detection of prostate cancer. This study investigates the influence of a transactional decision aid (DA) or cost compensation (CC) for a PSA test on the decisional behaviour of men. Prospective, cluster-randomised trial to compare two interventions in a 2 × 2 factorial design: DA versus counselling as usual, and CC versus noCC for PSA-testing. 90 cluster-randomised physicians in the administrative district of Muenster, Germany recruited 962 participants aged 55-69 yrs. in 2018. Primary endpoint: the influence of the DA and CC on the decisional conflict. Secondary endpoints: factors which altered the involvement of the men regarding their decision to take a PSA-test. The primary endpoint was analysed by a multivariate regression model. The choice to take the PSA test was increased by CC and reduced by the DA, the latter also reduced PSA uptake in men who were offered CC. The DA led to an increase of the median knowledge about early detection, changed willingness to perform a PSA test without increasing the level of shared decision, giving participants a stronger feeling of having made the decision by themselves. The DA did not alter the decisional conflict, as it was very low in all study groups. DA reduced and CC increased the PSA uptake. The DA seemed to have a greater impact on the participants than CC, as it led to fewer PSA tests even if CC was granted.Trial registration: German Clinical Trial Register (Deutsches Register Klinischer Studien DRKS00007687). Registered: 06/05/2015. https://www.drks.de/drks_web/navigate.do?navigationId=trial.HTML&TRIAL_ID=DRKS00007687 .

Fatigue as the Chief Complaint­Epidemiology, Causes, Diagnosis, and Treatment.

BACKGROUND: Fatigue is a main or secondary reason for 10-20% of all consultations with a primary care physician. METHODS: This review is based on pertinent publications retrieved by a comprehensive, selective literature search on the epidemiology, etiology, and diagnostic evaluation of fatigue as a leading symptom of disease, as well as on the treatment of its common causes. Information was also included from the literature search we conducted for the German clinical practice guideline on fatigue that was issued by the German College of General Practitioners and Family Physicians (Deutsche Gesellschaft für Allgemeinmedizin und Familienmedizin, DEGAM). RESULTS: Fatigue can be due to any of a broad spectrum of diseases, including decompensation of already known conditions. Sleep disorders and sleep-related disorders of breathing, depression (18.5%), and excessive psychosocial stress are the most common causes of persistent fatigue. Previously undiagnosed cancer is a rare cause, accounting for only 0.6% of cases (95% confidence interval [0.3; 1.3]). Anemia and other organic causes are rare as well (4.3% [2.7; 6.7]). Investigations beyond the history, physical examination, and simple laboratory tests are needed only in the presence of additional symptoms or findings. If the diagnosis remains unclear, watchful waiting and regularly scheduled follow-up help prevent an excessive focus on somatic causes, leading to overdiagnosis. Irrespective of specific causes, psychoeducative and psychotherapeutic approaches should be discussed with the patient, as well as an individually adapted exercise program. CONCLUSION: The work-up of fatigue as a chief complaint should be guided by investigating common and/or potentially dangerous disorders. Since the latter are rare, an exclusively somatic focus should be avoided in order to prevent overdiagnosis.

Development and Prospective Randomized Evaluation of a Decision Aid for Prostate-specific Antigen-based Early Detection of Prostate Cancer in Men Aged Between 55 and 69Yr: The PSAInForm Trial.

For men interested in early detection of prostate cancer, the potential impact on decisional conflict of a decision aid with or without cost compensation for the prostate-specific antigen test will be investigated.