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The prevalence of scurvy is often underestimated in severely disabled or chronically ill children. BACKGROUND Early-onset epileptic encephalopathies with burst suppression (EOEE-BS) are a group of neonatal epileptic syndromes characterized by intractable epilepsy and severe psychomotor delay with structural and metabolic factors accounting for major etiologies. CPI-203 datasheet However, recent advances in gene sequencing have identified that genetic factors might also play a significant role in the development of EOEE-BS. Herein, we used various genetic tests to identify pathogenic genetic variants in EOEE-BS irrespective of structural malformations and analyzed the clinical features associated with each different etiology. METHODS A total of 48 patients with EOEE-BS were included. Except for patients with severe hypoxic damage, patients with structural malformations were included in our patient cohort. Clinical features of the patients were reviewed, and etiological diagnoses were made based on several genetic tests, metabolic studies, and radiological findings. RESULT A genetic diagnosis was made in 31 (64.6 %) patients, with the most commonly diagnosed gene being STXBP1 (n = 13, 27.1 %), followed by KCNQ2 (n = 5, 10.4 %), SCN2A (n = 5, 10.4 %), DEPDC5 (n = 3, 6.3 %), CASK (n = 1, 2.1 %), CDKL5 (n = 1, 2.1 %), GNAO1 (n = 1, 2.1 %), SLC6A8 (n = 1, 2.1 %), and LIS1 deletion (n = 1, 2.1 %). Other than the classification of epilepsy syndrome, no clinical features were associated with the genetically diagnosed group. Among eight patients with structural malformations, genetic diagnosis was achieved in five (62.5 %), and those patients had pathogenic mutations in DEPDC5 and CASK or LIS1 deletion, indicating the significance of gene sequencing irrespective of structural abnormalities. Treatment responses to a variety of medications and the ketogenic diet differed by etiology, and surgical resection proved to be effective in patients with cortical dysplasia. CONCLUSION Genetic etiologies are an important factor in EOEE-BS irrespective of structural malformations and the treatment options may differ by etiology. BACKGROUND Controversy exists on management of lymphatic malformations, with schools of thought advocating for observation, surgery or sclerotherapy. This study sought to examine outcomes after surgical resection of pediatric cervicofacial macrocystic lymphatic malformations (MLM). METHODS Case series with planned data collection on pediatric patients with cervicofacial MLM who underwent surgical resection at a tertiary referral center for vascular anomalies from January 1995 to June 2016. For consistency in patient population analysis, patients who had pre-surgical sclerotherapy or had mixed or microcystic disease were excluded. The main outcome was complete response rate (CR) and long-term recurrence-free survival (RFS). RESULTS Sixty-three patients who underwent excision of MLM were included, 52.4% were female, 77.8% Caucasian. The majority had de Serres stage I-III (96.8%) affecting the neck (71.4%). Patients were discharged the same day (28.6%), or had a 1 day median length-of-stay (interquartile range (IQR) = 2). Surgical complications included seroma/hematoma (9.5%), transient nerve weakness (facial nerve, sympathetic chain, or phrenic nerve, 6.3%), and infection (1.6%). On long-term follow-up (median 12 months, IQR 1-43 months), a single surgery achieved CR in 90.5% of patients. RFS was achieved in 86% of patients in our observation period of up to 15 years. Most patients requiring a second intervention failed within 6-months of initial procedure (4/5 patients, 90%); associated factors included bilaterality, advanced staging, and partial response at first-follow-up (p = 0.0051, 0.0051, and less then 0.0001, respectively). CONCLUSIONS Surgery is safe and effective as first line treatment for selected MLM. For stage I-III MLM CR and long-term RFS can be achieved with a single surgery. A direct and randomized comparison of treatment modalities is needed. OBJECTIVES Various formulae have been suggested to calculate the appropriate sized endotracheal tube in children. The current study prospectively compares three commonly used formulae for selection of cuffed endotracheal tubes in children. METHODS Patients were randomized to one of three formulae (Duracher, Cole, or Khine) to determine the size of the cuffed endotracheal tube for endotracheal intubation. The fit of the tube was noted and intracuff pressure was measured using a manometer. The postoperative incidence of stridor, throat pain/soreness, and hoarseness was noted in the post-anesthesia care unit at 2, 4 and 24 h after the procedure. RESULTS The study cohort included 135 patients less than or equal to 8 years, equally divided into three groups based on age, weight, and gender. There was no difference in the intracuff pressure, the volume required to seal the airway, or the number of times in which the intracuff pressure was greater than or equal to 20 or 30 cm H2O among the three groups. Six tube changes were required in the Cole group while no tube changes were required in the Duracher group (p less then 0.05). The postoperative incidence of adverse events (throat pain, hoarseness, and stridor) at 0-2 h, 2-4 h, and 24 h was higher in the Cole group when compared to the Duracher group. CONCLUSION When using an endotracheal tube with a polyurethane cuff, the Duracher formula provided the best estimate for choosing the correct size. Herein, we developed an inexpensive titanium dioxide (TiO2) nanofiber substrate for efficient and selective capture of circulating tumor cells (CTCs) from mimic patients' samples. The TiO2 nanofiber substrates were fabricated by electrospinning in combination with the calcination process. The surface of nanofiber substrates was modified with the anti-adhesion molecule, bovine serum albumin (BSA) and the nucleolin aptamer AS1411, wherein, aptamer AS1411 specifically binds to the nucleolin protein overexpressed on the membrane surface of cancer cells. The formed TiO2 nanofiber substrates exhibited high efficacy and specificity to capture nucleolin positive cells through synergistic topographic interactions. Using the rare number of cell capture experiments, the capture efficiency of up to 75 % was achieved on the surface of the nanofiber substrate for rare number target cells spiked in the white blood cells (WBCs) from 1 mL whole blood samples. In conclusion, this study highlighted the potential of the TiO2-BSA-biotin-AS1411 nanofiber substrate as a highly efficient platform to realize the selective and specific capture of rare CTCs in the clinical settings.
Read More: https://www.selleckchem.com/products/cpi-203.html
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