Clinical characteristics of children with Guillain-Barré syndrome and factors associated with disease severity.

Guillain-Barré syndrome (GBS) is the leading cause of pediatric acute flaccid paralysis. This study aimed to summarize the clinical features of children with GBS and to explore factors associated with the severity of weakness. One hundred and twenty-two children with GBS (73 males and 49 females) were retrospectively analysed. The median age (IQR) at diagnosis was 4.0 years (2.9-7.2 years), and 26.2% of patients were at the age of 2-3 years. Of the 122 cases, 71 (58.2%) had an antecedent infection, 58 (47.5%) had cranial nerve involvement, 36 (29.1%) had dysautonomia, 77 (63.1%) had sensory symptoms, 28 (23.0%) had difficulty in breathing of which 15 (12.3%) patients required mechanical ventilation, and 8 (6.6%) had normal tendon reflex or hyperreflexia. Cytoalbuminologic dissociation of the cerebrospinal fluid was observed in 97 cases (82.9%). Further, 120 patients underwent nerve conduction studies: 76 (63.3%) exhibited demyelinating features whereas 36 (30.0%) had axonal type of CBS. 70.2% of patients could walk independently at 12 weeks. Fourteen (11.5%) patients were classified into the mild group [GBS disability score (GBS-DS) < 3] and 108 (88.5%) were classified into the severe group (GBS-DS ≥ 3). The incidence of cranial involvement (P = 0.038) and decreased tendon reflexes (P = 0.048) were significantly different between the two groups. These findings suggested that cranial nerve involvement is associated with severe muscle weakness in children with GBS.

The Genotype and Phenotype of Proline-Rich Transmembrane Protein 2 Associated Disorders in Chinese Children.

Objectives: To study the genetic and clinical characteristics of Chinese children with pathogenic proline-rich transmembrane protein 2 (PRRT2) gene-associated disorders. Methods: Targeted next generation sequencing (NGS) was used to identify pathogenic PRRT2 variations in Chinese children with epilepsy and/or kinesigenic dyskinesia. Patients with confirmed PRRT2-associated disorders were monitored and their clinical data were analyzed. Results: Forty-four patients with pathogenic PRRT2 variants were recruited. Thirty-five of them (79.5%) had heterozygous mutations, including 30 frameshifts, three missenses, one nonsense, and one splice site variant. The c.649dupC was the most common variant (56.8%). Eight patients (18.2%) showed whole gene deletions, and one patient (2.3%) had 16p11.2 microdeletion. Thirty-four cases (97.1%) were inherited and one case (2.9%) was de novo. Forty patients were diagnosed with benign familial infantile epilepsy (BFIE), two patients had paroxysmal kinesigenic dyskinesia (PKD) and two had infantile convulsions and choreoathetosis (ICCA). Patients with whole gene deletions had a later remission than patients with heterozygous mutations (13.9 vs. 7.1 months, P = 0.001). Forty-two patients were treated with antiseizure medications (ASMs). At last follow-up, 35 patients, including one who did not receive therapy, were asymptomatic, and one patient without ASMs died of status epilepticus at 12 months of age. One patient developed autism, and one patient showed mild developmental delay/intellectual disability. Conclusion: Our data suggested that patients with whole gene deletions could have more severe manifestations in PRRT2-associated disorders. Conventional ASMs, especially Oxcarbazepine, showed a good treatment response.

[A tolerability study of A cremophor-free albumin bound nanoparticle paclitaxel intravenously administered in patients with advanced solid tumor].

BACKGROUND & OBJECTIVE: Capxol is a Cremophor-free,protein stabilized, nanoparticle formulation of paclitaxel. This phase I study was designed to evaluate the tolerability/safety, toxicity profile, and maximum tolerated dose (MTD) of Capxol administered intravenously in Chinese patients with advanced solid tumor, and to provide the recommending dose for the phase II trial. METHOD: Capxol was administered intravenously over 30 minutes, no premedication was required. Doses of Capxol ranged from 135 to 350 mg/m(2). The treatment was repeated at 3 weeks interval. RESULTS: 22 patients were treated with Capxol and totally 94 treatments cycles were completed. No acute hypersensitivity reactions were observed during the infusion period. The treatment was tolerated well. Most of AEs (95%) were grade 1/2; >/= grade 3 AEs were only 5%. The most common toxicities were mild leucopenia and peripheral sensory neuropathy. The dose-limiting toxicities,which occurred at dose level of 350 mg/m(2),were grade 4 neutropenia (1 out of 3 patients) and grade 3 diplopia (1 out of 3 patients). The MTD was thus determined at 300 mg/m(2). Among 21 patients who were evaluable for efficacy, 1 CR, 7 PR, 9 SD, 4 PD were observed, overall response rate (CR+PR) was 38%. CONCLUSION: This phase I trial has demonstrated that Capxol has several advantages on clinical application, which include non-premedication required, shorter infusion time,higher paclitaxel MTD and safer toxicity. The results support for that a phase II clinical trial to further evaluate the antitumor activity of this drug in Chinese patients is worthy. The recommended dose for phase II clinical trial is 260 mg/m(2), I.V. over 30 minutes,and treatment repeats at every 3 weeks.