Background Lymphatic anomalies (LAs) include several disorders in which abnormal lymphatic tissue invades the neck, chest, and various organs. Progressive cases may result in lethal outcomes and have proven difficult to treat. Sirolimus is showing promising results in the management of vascular anomalies. We examined the efficacy and safety of sirolimus treatment in patients with progressive LAs. Methods All patients with LAs treated with sirolimus from May 2015 to September 2018 were included. They received oral sirolimus once a day and the dose was adjusted so that the trough concentration remained within 5–15 ng/mL. We prospectively reviewed the response to drugs (the response rate of radiological volumetric change of the target lesion), severity scores, reported quality of life (QOL), and adverse effects at 6 months after administration. Results Twenty patients (five with cystic lymphatic malformation (LM), three with kaposiform lymphangiomatosis, three with generalized lymphatic anomaly, six with Gorham-Stout disease, and three with central conducting lymphatic anomaly) were treated with sirolimus at our institution. Fifty percent of patients (10/20) demonstrated a partial response by a radiological examination and a significant improvement in disease severity and QOL scores ( P = 0.0020 and P = 0.0117, respectively). Ten patients who had no reduction in lesion size (stable disease group) showed no significant improvement in disease severity and QOL scores. Eighty percent of patients (16/20) had side effects, such as stomatitis, infection, and hyperlipidemia. Conclusions Sirolimus impacts the reduction of the lymphatic tissue volume of LMs and could lead to improvement in clinical symptoms and QOL. Trial registration UMIN Clinical Trials Registry, UMIN000016580 . Registered 19 February 2015, Electronic supplementary material The online version of this article (10.1186/s13023-019-1118-1) contains supplementary material, which is available to authorized users.
Background Kaposiform lymphangiomatosis (KLA) has recently been distinguished as a novel subtype of generalized lymphatic anomaly (GLA) with foci of spindle endothelial cells. All cases of KLA involve multiple organs and have an unfavorable prognosis. However, the molecular pathogenesis is unknown, and there are no useful biomarkers. In the present study, we performed genetic analysis to elucidate the cause of this disease and detect biomarkers for it. Methods We performed whole-exome sequencing of DNA samples from leukocytes and a biopsy specimen and analyzed cell-free DNA (cfDNA) from plasma and pleural effusion of patients to identify the NRAS c.182A > G (p.Q61R) mutation using the droplet digital polymerase chain reaction (ddPCR). Results All KLA patients (patients 1–5) had invasive and aggressive features (hemorrhagic pleural effusions, coagulation disorder, and thrombocytopenia) and characteristic findings of KLA in their pathological examinations. In whole exome sequencing for patient 1, c.182A > G missense variant (p.Q61R) in NRAS was identified in fresh frozen samples of a mass on the left chest wall at a frequency of 5% of total alleles but not in his blood leukocytes. Furthermore, the same mutation was detected in cfDNA isolated from plasma and pleural effusion by using ddPCR. ddPCR analysis of plasma/pleural effusion samples from an additional four KLA patients showed that the same mutation was detected in isolated cfDNA in three of the four, as well as in a tissue sample from one of the three plasma/effusion-positive patients that had been obtained to confirm the mutation. Conclusion These results provide the first evidence that NRAS oncogenic variant was identified in DNA samples from KLA patients from not only two affected lesions but also plasma and pleural effusion.
ABSTRACT. Canine epididymides were excised and immediately stored at 4°C for 48 hr, and the qualities of caudal epididymal sperm after recovery and cryopreservation were evaluated. To confirm the fertility of the cryopreserved caudal epididymal sperm, artificial intrauterine insemination was performed. The sperm motility (61.0%) immediately after recovery from caudal epididymis stored at 4°C for 48 hr was significantly lower than those of sperm stored for 0 and 24 hr (88.6 and 80.7%, respectively), but there was no significant difference after freeze-thawing (0-, 24-, and 48-hr storage groups: 27.9, 24.3, and 28.3%, respectively). The incidence of abnormal sperm immediately after recovery was significantly higher in the 24-hr and 48-hr storage groups (19.3 and 27.7%, respectively) than in the 0-hr storage group (5.6%), and a significant difference was also observed after freeze-thawing. The incidence of immature sperm with cytoplasmic droplets was significantly higher in the 48-hr storage group (18.4%) than in the 0-hr storage group (4.7%), but there was no difference after freeze-thawing. By unilateral intrauterine insemination (2 × 10 8 sperm), 4 of 5 bitches (80%) conceived. The above findings demonstrated that sperm motility was good even enough the incidence of abnormal sperm was high in canine epididymal sperm that were recovered from the epididymis stored at 4°C for 48 hr and cryopreseved, and that artificial intrauterine insemination resulted in a high conception rate. KEY WORDS: canine, cryopreservation, epididymal sperm, intrauterine insemination, refrigeration.J. Vet. Med. Sci. 67(11): 1141-1147, 2005 Many wild animals, including those in the canine family such as the gray wolf (Canis palus) and American red wolf (Canis rufus), are on the verge of extinction [4]. At the deaths of these animals by unexpected accidents, recovery and cryopreservation of sperm from the epididymis are important for assisted reproductive techniques [1,16].Since it may take time to recover and cryopreserve sperm from the epididymis after the death of an animals, development of a technique to store the epididymides until recovery of sperm is necessary, and such techniques have been investigated in many animal species [2, 7, 9, 10, 13-15, 18, 21, 26-28]. For example, in dogs, when Yu and Leibo [27] stored canine epididymides at 4°C for 8 days after excision, sperm motility was significantly decreased after 5 hr, but sperm membrane integrity was maintained even after storage for 48 hr, and the zona pellucida-binding ability was maintained even after 192 hr. In sheep, it has been reported that sperm from recovery of the epididymis stored at 5°C showed better sperm quality after 24 and 48 hr than sperm recovered from epididymides stored at room temperature for the same period [13]. In mice, it has been reported that sperm motility decreased to between 10 and 15% within 24 hr when the epididymis was stored at room temperature after the animal died, but epididymis stored at 4°C maintained 30% of the sperm motility even after 10 da...
Air-stable luminescent silicon nanoparticles with effective surface protection are reported as a quantum dot material with high emission quantum yield. The silicon nanoparticles are prepared by a novel reaction of SiO2 with phenol resins and characterized using X-ray diffraction (XRD) and transmission electron microscopy (TEM). The average particle size of the silicon nanoparticles is controlled by an acid-etching process with hydrofluoric and nitric acids in methanol. The particle size estimated from emission spectra was less than 5 nm. The surfaces of the silicon nanoparticles are protected using a photoassisted reaction with styrene molecules after the acid-etching process. The surface-protected silicon nanoparticles exhibit luminescence at around 650 nm, and their emission quantum yield is estimated to be 55%.
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