Interstitial lung and liver disease(ILLD) is caused by biallelic mutations in the methionyl-tRNA synthetase(MARS) gene. To date, no genetic changes other than missense variants were reported in the literature. Here, w...Interstitial lung and liver disease(ILLD) is caused by biallelic mutations in the methionyl-tRNA synthetase(MARS) gene. To date, no genetic changes other than missense variants were reported in the literature. Here, we report a five-month old female infant with typical ILLD(failure to thrive, developmental delay, jaundice, diffuse interstitial lung disease, hepatomegaly with severe steatosis, anemia, and thrombocytosis) showing novel phenotypes such as kidney stones, acetabular dysplasia, prolonged fever, and extreme leukocytosis. Whole exome sequencing revealed a novel truncating variant(c.2158 C>T/p.Gln720 Stop) together with a novel tri-nucleotide insertion(c.893_894 insTCG that caused the insertion of an arginine at amino acid position 299) in the MARS gene.展开更多
The TCM philosophy of a meridian and associated channels pertains to the specific function of one or more organs. We define the <span style="font-family:Verdana;">Lung Primary Meridian (LUM) together w...The TCM philosophy of a meridian and associated channels pertains to the specific function of one or more organs. We define the <span style="font-family:Verdana;">Lung Primary Meridian (LUM) together with the </span><span style="font-family:Verdana;">Lung Sinew (LUSC), Divergent (LUDC), Luo-connecting (LULCC) Channels as a system of routes plus some parts of the body (such as muscles) to fulfil respiration, as a main function under different situations. There is very limited information about the Lung associated channels in classical literature of TCM. With a clear focus on the function of respiration, we have carried out a detailed analysis of the biomedical consequence of stimulating the LUM, analysed the roles played by LUSC, LUDC, and LULCC. The updated LUM and LUDC include acupoints of other meridians, serving the same purpose of performing satisfactory respiration starting from checking the quality of the inflow through the nose. The LUSC includes the respiratory muscles (plus the associated connective tissues) extending to various parts of the body. The muscles of the limb (as part of the LUSC) embrace the nerves that provide routes for somatosensory reflexes and play the role of locomotion, providing voluntary respiration via the pectoralis muscles. The muscles of LUSC are bounded by stiff connective tissue layers, forming compartments, and are part of the pulley system for various body locomotions. Within a compartment, the interstitial fluid, blood, lymph flows must be potent to protect the associated nerves related to LUM;the healthy state of the LUSC also provides freedom of various types of locomotion. The LULCC exists because the vagus nerve has a part of it passing through the spinal cords all the way down to the sacrum domain, with exiting nerve innervating two-third of the large intestine. The crucial steps of our deductions </span><span style="font-family:Verdana;">are supported by experimental evidence based on modern neurophysiology and kinesiology. We discover that all the four channels stated above work as a unit system to allow respiration to be possible under various postures/conditions. </span><span style="font-family:Verdana;">The complexity of structures and processes is eased off by providing 29 figures and 13 tables for the relevant muscles and nerves. In addition to respiration, the Lung system in TCM context includes interaction of this system with the sweat gland and neuroendocrine system;such aspects will be left to another study.</span>展开更多
基金Supported by the National Natural Science Foundation of China,No.81570468
文摘Interstitial lung and liver disease(ILLD) is caused by biallelic mutations in the methionyl-tRNA synthetase(MARS) gene. To date, no genetic changes other than missense variants were reported in the literature. Here, we report a five-month old female infant with typical ILLD(failure to thrive, developmental delay, jaundice, diffuse interstitial lung disease, hepatomegaly with severe steatosis, anemia, and thrombocytosis) showing novel phenotypes such as kidney stones, acetabular dysplasia, prolonged fever, and extreme leukocytosis. Whole exome sequencing revealed a novel truncating variant(c.2158 C>T/p.Gln720 Stop) together with a novel tri-nucleotide insertion(c.893_894 insTCG that caused the insertion of an arginine at amino acid position 299) in the MARS gene.
文摘The TCM philosophy of a meridian and associated channels pertains to the specific function of one or more organs. We define the <span style="font-family:Verdana;">Lung Primary Meridian (LUM) together with the </span><span style="font-family:Verdana;">Lung Sinew (LUSC), Divergent (LUDC), Luo-connecting (LULCC) Channels as a system of routes plus some parts of the body (such as muscles) to fulfil respiration, as a main function under different situations. There is very limited information about the Lung associated channels in classical literature of TCM. With a clear focus on the function of respiration, we have carried out a detailed analysis of the biomedical consequence of stimulating the LUM, analysed the roles played by LUSC, LUDC, and LULCC. The updated LUM and LUDC include acupoints of other meridians, serving the same purpose of performing satisfactory respiration starting from checking the quality of the inflow through the nose. The LUSC includes the respiratory muscles (plus the associated connective tissues) extending to various parts of the body. The muscles of the limb (as part of the LUSC) embrace the nerves that provide routes for somatosensory reflexes and play the role of locomotion, providing voluntary respiration via the pectoralis muscles. The muscles of LUSC are bounded by stiff connective tissue layers, forming compartments, and are part of the pulley system for various body locomotions. Within a compartment, the interstitial fluid, blood, lymph flows must be potent to protect the associated nerves related to LUM;the healthy state of the LUSC also provides freedom of various types of locomotion. The LULCC exists because the vagus nerve has a part of it passing through the spinal cords all the way down to the sacrum domain, with exiting nerve innervating two-third of the large intestine. The crucial steps of our deductions </span><span style="font-family:Verdana;">are supported by experimental evidence based on modern neurophysiology and kinesiology. We discover that all the four channels stated above work as a unit system to allow respiration to be possible under various postures/conditions. </span><span style="font-family:Verdana;">The complexity of structures and processes is eased off by providing 29 figures and 13 tables for the relevant muscles and nerves. In addition to respiration, the Lung system in TCM context includes interaction of this system with the sweat gland and neuroendocrine system;such aspects will be left to another study.</span>
