Articles: disease.
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An estimated 17% of all couples worldwide are involuntarily childless (infertile). The clinically identifiable causes of infertility can be found in the male or female partner or in both. The molecular pathophysiology of infertility still remains unclear in many cases but is increasingly being revealed by genetic analyses. ⋯ Genetic causes, disease patterns, and the related investigations are becoming increasingly important in the diagnostic evaluation of infertile couples and have implications for further treatment, for the children of the affected couple, and for other family members.
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Sarcopenia is a progressive, generalized disease of skeletal muscle characterized by a loss of muscle strength and muscle mass. The combination of obesity and sarcopenia is called sarcopenic obesity. Because of the aging of the population in many countries around the world, sarcopenia and sarcopenic obesity are a challenge for global health policy. ⋯ A targeted and structured approach to the detection and treatment of sarcopenia and sarcopenic obesity can make a major contribution to the maintenance or improvement of these patients' functionality and quality of life.
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Neurofibromatosis type 1 (NF1) is a rare genetic disorder affecting multiple bodily systems that predisposes to the development of tumors. It affects approximately 1 in 3000 newborns in Germany. Its clinical manifestations are diverse and complex, and its diagnostic and therapeutic management call for specialized knowledge and experience. The lack of nationwide guidelines and recommendations further increases the difficulty of establishing an appropriate standardized and interdisciplinary approach. ⋯ These recommendations are intended to serve as a guide to a standardized interdisciplinary approach to the management of patients with NF1 in Germany, based on an up-to-date scientific understanding of the disease. This approach should improve care overall, both by enabling better care and by eliminating unnecessary diagnostic studies.
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Cirrhosis is the end stage of chronic liver disease. Cirrhosis causes portal hypertension, which, in turn, can lead to acute on chronic liver failure (ACLF), which is defined as acute decompensation combined with failure of the liver, coagulation system, kidneys, lungs, and/or circulatory system, or hepatic encephalopathy. ⋯ Liver transplantation is currently the only curative option for ACLF but is not suitable for all patients because of the narrow therapeutic window and the common presence of contraindications. Prospective data are lacking that would aid in the selection of patients for liver transplantation so that post-transplantation survival rates can be improved.
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Hemochromatosis is an inheritable condition that mainly affects White populations of European descent. Most patients remain asymptomatic, but others develop advanced organ damage that reduces quality of life and long-term survival. ⋯ Primary care and hospital medicine physicians play an essential role in early identification of this disease, which can be accomplished via standard hematologic testing. Early diagnosis and therapeutic phlebotomy improve clinical outcomes.