Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

\ua9 2019 The Authors. Background: Recent findings strongly support hematopoietic stem cell transplantation (HSCT) in patients with severe presentation of LPS-responsive beige-like anchor protein (LRBA) deficiency, but long-term follow-up and survival data beyond previous patient reports or meta-reviews are scarce for those patients who do not receive a transplant. Objective: This international retrospective study was conducted to elucidate the longitudinal clinical course of patients with LRBA deficiency who do and do not receive a transplant. Method: We assessed disease burden and treatment responses with a specially developed immune deficiency and dysregulation activity score, reflecting the sum and severity of organ involvement and infections, days of hospitalization, supportive care requirements, and performance indices. Results: Of 76 patients with LRBA deficiency from 29 centers (median follow-up, 10 years; range, 1-52), 24 underwent HSCT from 2005 to 2019. The overall survival rate after HSCT (median follow-up, 20 months) was 70.8% (17 of 24 patients); all deaths were due to nonspecific, early, transplant-related mortality. Currently, 82.7% of patients who did not receive a transplant (43 of 52; age range, 3-69 years) are alive. Of 17 HSCT survivors, 7 are in complete remission and 5 are in good partial remission without treatment (together, 12 of 17 [70.6%]). In contrast, only 5 of 43 patients who did not receive a transplant (11.6%) are without immunosuppression. Immune deficiency and dysregulation activity scores were significantly lower in patients who survived HSCT than in those receiving conventional treatment (P = .005) or in patients who received abatacept or sirolimus as compared with other therapies, and in patients with residual LRBA expression. Higher disease burden, longer duration before HSCT, and lung involvement were associated with poor outcome. Conclusion: The lifelong disease activity, implying a need for immunosuppression and risk of malignancy, must be weighed against the risks of HSCT

A Multicentered Study on Epidemiologic and Clinical Characteristics of 37 Neonates With Community-acquired COVID-19

PMID = 3293232

Immobilization of Fusarium graminearum β-d-fructofuranosidase using alternative cellulosic supports: Stabilization and production of fructooligosaccharides

The extracellular β-d-fructofuranosidase from Fusarium graminearum was immobilized using hydrophilic cotton, filter paper, multipurpose cloth, sugar cane bagasse, string, or gauze as alternative cellulosic supports, or with cyanogen bromide agarose. All derivatives (support+enzyme) showed high capacity for reuse (up to 23 times). The derivatives obtained with multipurpose cloth and string were stable at 60°C maintaining 80% of their activity for more than 120 min. The filter paper derivative had a halflife (T50) of 27 min at 70°C. When tested for their pH stability (3.0–9.0), all derivatives were more stable than the free enzyme, especially the cotton derivative. The sugarcane bagasse, string, and filter paper derivatives could efficiently produce fructooligosaccharides (FOS) using sucrose as substrate. According to the retention of enzymatic activity, reuse and stabilities, the filter paper and string were the best alternative supports for β-d-fructofuranosidase immobilization, allowing enzyme stabilization and production of FOS

Modification of multiwall carbon nanotube by thiol-ene click chemistry

Thiol-ene click chemistry was used for the preparation of polystyrene grafted multiwall carbon nanotubes (MWCNTs) via the thermal initiation method. The thiol end-functional PSt (PSt-SH) was prepared by the nucleophilic substitution reaction of the bromide end groups of PSt obtained by atom transfer radical polymerization. PSt-SH grafted to the surface of the MWCNTs by thiol-ene click chemistry via the thermal initiation method

Two-stage approach in the management of thoracic neuroenteric cyst with spinal extension: thoracoscopic excision following dorsal laminectomy

WOS: 000348446700003PubMed ID: 25236467Neuroenteric cysts (NC) are rare pathologies and localized generally in posterior mediastinum or abdomen where they may extend to spinal canal through a vertebral defect. Isolated spinal lesions require dorsal/ventral laminectomy and thoracic ones thoracotomy or thoracoscopy. Posterolateral approach via thoracotomy is generally performed for lesions with both thoracic and spinal components. Minimal invasive excision of a thoracic NC with spinal extension in an infant is presented herein. A term female newborn with an antenatal (26th week) diagnosis of congenital diaphragmatic hernia (CDH) was admitted. On physical examination, she was normal except mild dyspnea and CDH were excluded on radiogram. Left parenchymal opacity necessitated thorax tomography that revealed lobulated cystic lesion (6 x 3.5 x 4.5 cm) in posterior mediastinum. MRI showed intraspinal extension of the lesion through a hemivertebrae (6th). Two-stage procedure was planned for suspected neuroenteric cyst. First, intraspinal component was excised with dorsal laminectomy and the connection was closed. Then, the thoracic component was excised thoracoscopically. Histopathological evaluation confirmed the diagnosis. Total parenteral nutrition and high dose somatostatin analog was needed due to transient left chylothorax on postoperative course. She was well and symptom-free in postoperative period. Neuroenteric cysts may lead to misdiagnoses in antenatal period. MRI is critical to show spinal and vertebral pathologies in suspected cases. Thoracoscopy may safely be performed for thoracic lesions with spinal extension in two-stage approach following closure of the connection and excision of the spinal component