1.
Cerebrotendinous xanthomatosis, sitosterolemia, Smith-Lemli-Opitz syndrome and the seminal contributions of Gerald Salen, MD (1935-2020).
Schaefer, EJ, Tint, GS, Duell, PB, Steiner, RD
Journal of clinical lipidology. 2021;(4):540-544
Abstract
Cerebrotendinous xanthomatosis (CTX), sitosterolemia, and Smith-Lemli Opitz syndrome (SLOS) are rare inborn errors of metabolism. The diagnoses of CTX and sitosterolemia are often delayed for many years because of lack of physician awareness, often resulting in significant and unnecessary progression of disease. CTX may present with chronic diarrhea, juvenile onset cataracts, strikingly large xanthomas, and neurologic disease in the setting of a normal serum cholesterol, but markedly elevated serum or plasma cholestanol levels. These patients have a defect in producing the bile acid chenodoxycholate, and oral chenodeoxycholate therapy is essential for these patients in order to prevent neurologic complications. Sitosterolemia can present with xanthomas, anemia, thrombocytopenia, splenomegaly, very premature heart disease, and serum cholesterol levels that may be normal or elevated, along with marked elevations of plasma β-sitosterol. These patients have a defect causing overabsorption of β-sitosterol, and the treatment of choice is oral ezetimibe. SLOS presents with growth delay, intellectual disability, multiple structural anomalies, and low serum cholesterol levels, and the defect is reduced cholesterol production. Treatment consists of dietary cholesterol supplementation and oral bile acid therapy which raises serum cholesterol levels and may improve symptoms. The metabolic and genetic defects in these disorders have been defined. There is no one in our field that has contributed more to the diagnosis and treatment of these disorders than Gerald Salen, MD, who died in late 2020 at 85 years of age. He will be greatly missed by his family, friends, and colleagues from around the world.
2.
Hippocratic concepts of acute and urgent respiratory diseases still relevant to contemporary medical thinking and practice: a scoping review.
Stefanakis, G, Nyktari, V, Papaioannou, A, Askitopoulou, H
BMC pulmonary medicine. 2020;(1):165
Abstract
BACKGROUND The collected works of Hippocrates were searched for concepts on the diagnosis, prognosis, and treatment of acute and urgent respiratory diseases, with the objective to trace their origins in the Hippocratic Collection. METHODS A scoping review was performed to map out key concepts of acute and severe respiratory diseases in the entire Hippocratic Collection. The digital library Thesaurus Lingua Graeca (TLG) was researched for references in the entire Hippocratic Collection regarding the epidemiology, pathophysiology, prognosis, diagnosis and treatment of acute respiratory diseases; then, the relevant texts were studied in their English translation by the Loeb Classical Library. RESULTS Hippocratic physicians followed principles of treatment for pneumonia and pleurisy, still relevant, such as hydration, expectoration, analgesia and prompt mobilisation. Other approaches, including the inhalation of "vapours through tubes" in angina, can be considered as forerunners of modern medical practice. Thoracic empyema was diagnosed by shaking the patient and direct chest auscultation after "applying your ear to his sides". In case of an emergency from upper airway obstruction, urgent insertion of primitive airway equipment, such as a small pharyngeal tube, was applied. CONCLUSIONS The main Hippocratic concepts on four still common acute and urgent respiratory diseases -pneumonia, pleurisy, thoracic empyema and upper airway obstruction- were identified and most of them were found to be in agreement with contemporary medical thinking and practice.