Hyponatremia (HN) is a common condition, with a large number of etiologies and a complicated treatment. Although chronic HN has been shown to be a predictor of poor outcome, sodium-increasing treatments in chronic stable and asymptomatic HN have not proven to increase life expectancy. For symptomatic HN, in contrast, the necessity for urgent treatment has broadly been accepted to avoid the deve...

Recent advance of modern medicine in the field of renal diseases is remarkable. The favorable treatment result for experimental nephritis, and progress of cellular and humoral immunological studies as well as prevalence of renal biopsy have contributed to elucidate the pathogenic mechanism of glomerular nephritis. Renal biopsy plays an important role to combine clinical findings and morphologic...

(1) HISTORICAL.-In the fully-developed state, choroideremia presents a characteristic and unmistakable picture of which Fig. 1 and Colour Plate 1(a and b) may be taken as examples. The almost total lack of choroidal vessels strongly suggests a developmental anomaly. In fact most of the early writers on, the subject, such as Mauthner (1872) and Koenig (1874), stressed the likeness to choroidal c...

Recent studies demonstrate that primary (hereditary) abnormalities in the glucocorticoid receptor gene make 6.6% of the normal population relatively "hypersensitive" to glucocorticoids, while 2.3% are relatively "resistant." These abnormalities might explain why some individuals develop severe adverse effects during low dose glucocorticoid therapy, while others do not develop side effects even ...

The work performed by the clinical chemist may deeply affect the decisions of the doctor and the well-being of the patient. Yet in contrast to the doctor and to the nurse the clinical chemist usually has no personal relationship with the patient. Being encumbered by much technology and anonymity is itself a reason for scrutinising his involvement in issues of health care ethics. This is an atte...

Fibromyalgia (FM) is a clinical syndrome commonly observed in daily medical practice and its etiopathogenesis is still unclear. As it is characterized by chronic musculoskeletal pain associated with several symptoms, FM may be confused with several other rheumatic and nonrheumatic diseases when they course with pictures of diffuse pain and chronic fatigue. FM treatment should be multidisciplina...

Prader-Willi Syndrome (PWS) is a complex multisystem genetic disorder that shows great variability, with changing clinical features during a patient's life. The syndrome is due to the loss of expression of several genes encoded on the proximal long arm of chromosome 15 (15q11.2-q13). The complex phenotype is most probably caused by a hypothalamic dysfunction that is responsible for hormonal dys...

Rett syndrome (RTT) is a severe neurodevelopmental disorder and is the second most common form of severe mental retardation in females. RTT affects 1 in 8,000 births by the age of 15 and does not discriminate between racial or ethnic groups. It is a devastating condition characterised by progressive loss of speech and movement and the development of intellectual disability at a very young age. ...