Postgraduate medicine
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Postgraduate medicine · Nov 2017
ReviewThe important role of primary care providers in the detection of alpha-1 antitrypsin deficiency.
Alpha-1 antitrypsin deficiency (AATD) is an underrecognized genetic disorder that can cause chronic obstructive pulmonary disease (COPD) and liver cirrhosis, two clinical conditions commonly seen by primary care physicians. AATD is estimated to affect 1/4000-1/5000 people in the United States and 1-2% of all COPD cases. ⋯ Improving primary care provider awareness and promoting regular reflex testing all COPD patients for AATD may significantly improve the care of COPD patients.
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Osteoblasts are mesenchymal cells that play a key role in maintaining bone homeostasis; they are responsible for the production of extracellular matrix proteins, regulation of matrix mineralization, control of bone remodeling and regulate osteoclast differentiation. Osteoblasts have an essential role in the pathogenesis of many bone diseases, particularly osteoporosis. For many decades, the main current available treatments for osteoporosis have been represented by anti-resorptive drugs, such as bisphosphonates, which act mainly by inhibiting osteoclasts maturation, proliferation and activity; nevertheless, in recent years much attention has been paid on anabolic aspects of osteoporosis treatment. Many experimental evidences support the hypothesis of direct effects of the classical anti-resorptive drugs also on osteoblasts, and recent progress in understanding bone physiology have led to the development of new pharmacological agents such as anti-sclerostin antibodies and teriparatide which directly target osteoblasts, inducing anabolic effects and promoting bone formation.
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Postgraduate medicine · Nov 2017
Association between triglyceride/high-density lipoprotein ratio and hearing impairment in a Korean population.
The aim of the present study was to evaluate the clinical association between triglyceride (TG)/high-density lipoprotein cholesterol (HDL-C) ratio and hearing impairment in a Korean population. ⋯ High TG/HDL-C ratio was associated with hearing impairment in a Korean population.
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Postgraduate medicine · Nov 2017
Sex difference in the association of serum uric acid with metabolic syndrome and its components: a cross-sectional study in a Chinese Yi population.
Since the association between serum uric acid (SUA) and metabolic syndrome (MetS) has been reported extensively, it remains unclear whether SUA is associated with MetS and its components in a Chinese Yi population. ⋯ SUA levels were closely associated with MetS and several components by sex in Chinese Yi population.
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Postgraduate medicine · Nov 2017
Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in seven Chinese families.
Defects in the chloride channel 7 (CLCN7) gene lead to autosomal dominant osteopetrosis type II (ADOII, OPTA2 MIM 166600) and autosomal recessive osteopetrosis, autosomal recessive 4 (ARO, OPTB4 MIM 611490). The objective of the present study was to expand the mutational spectrum and analyze the correlation between mutational sites and clinical phenotypes. ⋯ The present study revealed three novel mutations, showed the dense but brittle sclerotic bones of an OPTA2 patient, characterized OPTA2 symptoms from benign to fatal and reported a rare intermediate case of ARO in a Chinese population.