BACKGROUND Mutations in the ARV1 Homolog, Fatty Acid Homeostasis Modulator (ARV1), have recently been described in association with early infantile epileptic encephalopathy 38. Affected individuals presented with epilepsy, ataxia, profound intellectual disability, visual impairment, and central hypotonia. In S. cerevisiae, Arv1 is thought to be involved in sphingolipid metabolism and glycophosphatidylinositol (GPI)-anchor synthesis. The function of ARV1 in human cells, however, has not been elucidated. METHODS Mutations were discovered through whole exome sequencing and alternate splicing was validated on the cDNA level. Expression of the variants was determined by qPCR and Western blot. Expression of GPI-anchored proteins on neutrophils and fibroblasts was analyzed by FACS and immunofluorescence microscopy, respectively. RESULTS Here we describe seven patients from two unrelated families with biallelic splice mutations in ARV1. The patients presented with early onset epilepsy, global developmental delays, profound hypotonia, delayed speech development, cortical visual impairment, and severe generalized cerebral and cerebellar atrophy. The splice variants resulted in decreased ARV1 expression and significant decreases in GPI-anchored protein on the membranes of neutrophils and fibroblasts, indicating that the loss of ARV1 results in impaired GPI-anchor synthesis. CONCLUSION Loss of GPI-anchored proteins on our patients' cells confirms that the yeast Arv1 function of GPI-anchor synthesis is conserved in humans. Overlap between the phenotypes in our patients and those reported for other GPI-anchor disorders suggests that ARV1-deficiency is a GPI-anchor synthesis disorder. Crown All rights reserved.Mandibular distraction osteogenesis at an early age is the standard hemifacial microsomia treatment. Nevertheless, the recurrence rate remains high and the definition of early age is controversial. We explored the optimal timing for mandibular distraction, when the surrounding skeleton, such as maxilla, can grow compensatory, to reduce recurrence. Hemifacial microsomia patients were prospectively divided into Groups A (1-3 years old) and B (4-6 years old), according to maxillary and mandibular growth curves. Computed tomography scans were obtained before distractor implantation and after removal surgery. Maxillary volume increase percentage was the main outcome indicator; other indicators (maxillary symmetry and complications) were secondary outcomes. Fifty-eight patients were enrolled and all but one patient in Group A (failed distraction) completed the study. Two patients had facial nerve injury and another two had mouth-opening limitation, which was relieved after coracoid resection. The difference in percentage increase in maxillary volume between the affected and unaffected sides was 5.06 ± 2.73% and 3.18 ± 1.99% in Groups A and B, respectively, suggesting better compensatory growth in younger patients (P = 0.004). Maxillary symmetry was apparently elevated after mandibular distraction. Mandibular distraction osteogenesis was confirmed to be feasible and safe at age less then 4 years. We delineated the expression of DAP12 (DNAX-Activating Protein) and its associated receptors, TREM-1, TREM-2 and MDL-1 in pig alveolar monocyte/macrophages (AMM) that have attained M1 or M2 phenotypes. Pig AMM stimulated in vitro with IFN-γ and IL-4 induced the expression of M1 (TNFα and iNOS) and M2 (ARG1 and no MMR) phenotypic markers, respectively. In influenza virus infected pigs at seven days post-infection, in addition to substantial modulations in the M1 and M2 markers expression, DAP12, TREM-1 and MDL-1 were downregulated in AMM. Thus, DAP12 signaling promoted the anti-inflammatory pathway in AMM of influenza virus infected pigs. BACKGROUND The elderly population is an especially heterogeneous group of patients with a rising number of surgical interventions being performed in the very elderly patient. The aim of this study was to evaluate the correlation between different age strata and functional status with the surgical outcome of the elderly patient. METHODS Retrospective cohort study conducted in a Surgical Intensive Care Unit (SICU), between 2006 and 2013. A total of 2331 surgical patients ≥ 65 years old were included. Patients were grouped according to age Older Elderly Group (OEG 65-85 years old); Very Elderly Group (VEG > 85 years old). Demographic and perioperative data were recorded. Revised Cardiac Risk Index, APACHE II and SAPS II scores were calculated and postoperative complications were documented. Variables were compared on univariate analysis. RESULTS The incidence of the VEG was 5.4%. This group had a higher proportion of non-elective surgery (22.4% vs. 11.2%, p  less then  0.001), higher APACHE II (12.0 vs. 10.0, p  less then  0.001) and SAPS II (26.6 vs. https://www.selleckchem.com/ 22.2, p  less then  0.001) scores, higher incidence of organ failure (24.6% vs. 17.6%, p = 0.048) and a higher mortality rate during SICU (14.0% vs. 5.2%, p = 0.026) and hospital stay (9.3% vs. 5.0%, p = 0.012). CONCLUSION We found that very elderly patients represented a significant proportion of patients admitted to the SICU. They had higher severity scores with a higher prevalence of organ failure and were more likely to undergo non-elective surgery. They had worse outcomes in regarding mortality during SICU and hospital stay. Radio-frequency identification (RFID) technology uses an antenna to respond to an incoming signal by sending an outgoing message. This technology has been in use for over 50 years and is common in daily activities such as tapping a credit card to a reader, swiping an ID badge to open a door, paying highway tolls, and operating keyless entry cars. This technology can be implanted, such as in the microchips used to identify domestic pets. Since 1998, RFID chips have also been implanted in humans. This practice is little studied but appears to be increasing; rice-sized implants are implanted by hobbyists and even offered by some employers for uses ranging from access to emergency medical records to entry to secured workstations. These implants are of special concern to hand surgeons because they are most commonly placed in the subcutaneous dorsal first web space. The US Food and Drug Administration first approved this technology in 2004, with stated potential risks including adverse tissue reaction, migration of the implanted transponder, compromise of information security, electrical hazards, and magnetic resonance imaging incompatibility.