Limmorrow6137

Sensitivities are 97%, 100%, and 98% for anti-SARS-CoV-2 IgG and 87%, 83%, and 86% for anti-SARS-CoV-2 IgM in the early infection, in the late infection and in the total patient group, respectively. The Mindray anti-SARS-CoV-2 IgG and IgM assays demonstrated higher sensitivity and specificity, indicating that IgG and IgM simultaneous detection is useful even in the early phases of infection.HIV-1 Gag virus-like particles (VLPs) are promising candidates for the development of future vaccines. Recent viral outbreaks have manifested the need of robust vaccine production platforms able to adapt to new challenges while achieving mass production capacity. For the rapid production of VLPs, the method of transient gene expression (TGE) have proved highly efficient. Based on a previous characterization of the HEK293 cell line upon transient transfection using multiplexed quantitative proteomics, molecular production bottlenecks and metabolic pathways likely to be optimized were identified. In this study, these molecular components and metabolic pathways have been explored and modulated via transient metabolic engineering using approaches like design of experiments to fully exploit and optimize VLP production, transfection and budding efficiency. Upon overexpression of endosomal sorting complex required for transport accessory proteins like NEDD4L and CIT, VLP production increased 3.3 and 2.9-fold, respectively. Overexpression of glycosphingolipid precursor enzyme UGCG improved transfection efficiency by 17% and knocking-down the Gag-binding protein CNP improved 2.5-fold VLP specific productivity. Combining CNP inhibition and UGCG overexpression further improved budding efficiency by 37.3%. Modulating VLP production and accessory pathways like intracellular budding, demonstrated the potential of metabolic engineering to optimize and intensify the development of robust production platforms for future vaccines.A young boy with multifocal epilepsy with infantile spasms and hypsarrhythmia with minimal organic lesions of brain structures underwent DNA diagnosis using whole-exome sequencing. A heterozygous amino-acid substitution p.L519R in a PHACTR1 gene was identified. PHACTR1 belongs to a protein family of G-actin binding protein phosphatase 1 (PP1) cofactors and was not previously associated with a human disease. The missense single nucleotide variant in the proband was shown to occur de novo in the paternal allele. The mutation was shown in vitro to reduce the affinity of PHACTR1 for G-actin, and to increase its propensity to form complexes with the catalytic subunit of PP1. These properties are associated with altered subcellular localization of PHACTR1 and increased ability to induce cytoskeletal rearrangements. Although the molecular role of the PHACTR1 in neuronal excitability and differentiation remains to be defined, PHACTR1 has been previously shown to be involved in Slack channelopathy pathogenesis, consistent with our findings. We conclude that this activating mutation in PHACTR1 causes a severe type of sporadic multifocal epilepsy in the patient.

Spinal Malignant peripheral nerve sheath tumours (MPNSTs) are very rare aggressive tumours with poor prognosis. Little is known about these tumours in sub-saharan Africa.

This study aims to evaluate the clinical profile and outcome of management of these tumours in a resource limited country.

We retrospectively analysed data from the records of patients who had surgery for spinal MPNSTs at our center between January 2004 and December 2018.

There were four patients in this study (MF= 11). The ages ranged from 27-53 years with a mean of 43.25 ± 11.84 years. The tumour was located in the thoracic region in 2 of the patients (50%), the lumbar region in one (25%) and thoracolumbar in the 4th patient. Three patients (75%) presented with back pain while limb weakness, sensory deficit and sphincteric dysfunction were present in all patients at presentation. The duration of symptoms were 2 months in 2 patients (50%) and 3 months in the other 2. None of the patients had neurofibromatosis. Gross total tumour excision was achieved in 2 patients (50%) and subtotal resection in the other 2. The tumours were high grade in three patients (75%) and low grade in one. Two patients had adjuvant radiotherapy. Two of the patients were dead within 6 months of the diagnosis, another one within 18 months while one patient is still alive 3 years after.

MPNSTs are very rare in our practice. Most of the tumours were high grade tumours and ran an aggressive course.

MPNSTs are very rare in our practice. Most of the tumours were high grade tumours and ran an aggressive course.Giant cell tumours of bone are relatively uncommon, accounting for about 5% of all primary bone tumours. They are generally classified as benign bone tumours. However, some of them might be locally aggressive. The peak incidence is between second and fourth decades of life. They are commonly found at the epiphyseal and, occasionally, metaphyseal zones of long bones such as radius, femur and tibia. They most often present as painless swellings; however, pain may be experienced as a result of pressure on the surrounding soft tissues. The relevant diagnostic investigations that help in establishing the diagnosis include plain x-rays, Magnetic resonance imaging (MRI), CT and tissue biopsy for histological confirmation. Traditionally, surgery is the mainstay of treatment of the disease. MTX531 Other modalities include radiation, tumour embolization and injectable drugs for surgically inaccessible or recurrent cases.Osteogenesis Imperfecta is a genetic disorder of the connective tissue leading to generalised osteoporosis, fragility of the skeletal system and susceptibility to fractures of the long bones and compression of the vertebrae from mild or inconsequential trauma. It is one of the rare diseases known to mankind. It has no definitive cure and treatment is essentially supportive. We present below a preterm male neonate who was seen 5-hours after birth with abnormal posturing, abnormal shape of the head and limbs. There was a positive family history of delivery of a baby with similar history and outcome. A skeletal survey revealed multiple fractures involving the clavicle, humerus, femur, tibia and fibula. He was managed as a case of Osteogenesis Imperfecta. This was the first case out of 1,445 newborns admitted into the Unit. He was discharged after 2-weeks of hospitalisation but died at 6-weeks of age following progressively worsening episodes of respiratory distress.