Respiratory Complications Between Cuffed and Uncuffed Endotracheal Tubes in Pediatric Respiratory Management After Palatoplasty: Single-Center Retrospective Cohort Study.

We aimed to examine the associations between use of cuffed or uncuffed endotracheal tubes (ETTs) and complications during and after short-term intubation of post-palatoplasty patients without intrinsic lung disease. DESIGN: Retrospective cohort study. SETTING: Operating room and PICU. PATIENTS: Children without intrinsic lung disease who had undergone palatoplasty at a single institution. Inclusion criteria: intubation using ETTs with an internal diameter of 3.5 mm and postoperative management in the PICU. Exclusion criteria: 1) patients for whom ETTs with internal diameters other than 3.5 mm were used, 2) patients who had already been extubated in the operating room, and 3) patients who had a tracheostomy. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Eighty-seven patients were screened for eligibility; 71 met the inclusion criteria. Of the 71 patients, 41 (58%) with polyurethane-cuffed ETTs (PUC-ETTs) and 30 (42%) with uncuffed ETTs were enrolled. We failed to identify an association between type of PUC-ETT and the development of atelectasis (odds ratio [OR], 1.06; 95% CI, 0.35-3.20; p = 1.00). Similarly, we failed to identify an association between type of PUC-ETT and development of stridor (OR, 1.58; 95% CI, 0.43-5.81; p = 0.715) or hoarseness after extubation (OR, 7.03; 95% CI, 0.83-59.6; p = 0.10). At extubation, air leak pressure was higher in the PUC-ETT group than in the uncuffed ETT group (p < 0.001), a finding which was not evident at intubation. The number of patients who received IV dexamethasone and the cases of inhaled racemic epinephrine were not statistically significant. CONCLUSIONS: In this select population of post-palatoplasty infants without intrinsic lung disease, we failed to identify any association between type of ETT (cuffed or uncuffed) and greater odds of developing respiratory complications. Taken together with the 95% CI of the effect size, our data indicate continued uncertainty about type of ETT that should be used for short-term intubation.

Refractory status epilepticus with fever due to mumps vaccine-induced encephalitis caused secondary encephalopathy mimicking acute encephalopathy with biphasic seizures and late reduced diffusion.

BACKGROUND: Encephalitis due to vaccination for mumps is a rare complication that occurs in 0.00004% of recipients, and there has been no report of serious neurological sequelae. Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) has been reported as the most frequent type among acute encephalopathy syndromes in the pediatric population in Japan. There has been no report of AESD caused by vaccinations. Case presentation We present the clinical course of a 1-year and 10-month-old boy who had no preexisting condition, and developed mumps vaccine-induced severe primary encephalitis. Refractory status epilepticus due to encephalitis persisted for 16 h and resulted in secondary encephalopathy as a form of AESD mimic. He had serious neurological sequelae, such as West syndrome, transient spastic tetraplegia, and intellectual disability, despite intensive treatments. DISCUSSION: The presented boy is the first patient to develop mumps vaccine-induced primary encephalitis with severe central nervous system (CNS) damage. Screening of the immunological background in the presented patient revealed no abnormalities; therefore, it is unclear why he developed such severe adverse events. In patients with acute encephalitis caused by the herpes simplex virus 1, inborn immune errors in CNS based on mutations in single genes are involved in its pathophysiology. Consequently, some immunogenetic alterations could be found by further analysis in the presented patient.

Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis.

Transient receptor potential channel C6 encoded by TRPC6 is involved in slit diaphragm formation in podocytes, and abnormalities of the TRPC6 protein cause various glomerular diseases. The first identified pathogenic variant of TRPC6 was found to cause steroid-resistant nephrotic syndrome that typically developed in adulthood and then slowly led to end-stage renal disease, along with a renal pathology of focal segmental glomerulosclerosis. Here, we report a patient with rapidly progressing infantile nephrotic syndrome and a heterozygous missense TRPC6 variant. The patient, a 2-year-old Japanese boy, developed steroid-resistant nephrotic syndrome at age 11 months. His renal function deteriorated rapidly, and peritoneal dialysis was introduced at age 1 year and 6 months. His renal pathology, obtained at age 1 year and 1 month, was consistent with diffuse mesangial sclerosis (DMS). Clinical exome analysis and custom panel analysis for hereditary renal diseases revealed a reported heterozygous missense variant in TRPC6 (NM_004621.5:c.523C > T:p.Arg175Trp). This is the first report of a patient with a TRPC6-related renal disorder associated with DMS.

Familial episodic limb pain in kindreds with novel Nav1.9 mutations.

We previously performed genetic analysis in six unrelated families with infantile limb pain episodes, characterized by cold-induced deterioration and mitigation in adolescence, and reported two new mutations p.R222H/S in SCN11A responsible for these episodes. As no term described this syndrome (familial episodic pain: FEP) in Japanese, we named it as"". In the current study, we recruited an additional 42 new unrelated Japanese FEP families, between March 2016 and March 2018, and identified a total of 11 mutations in SCN11A: p.R222H in seven families, and p.R225C, p.F814C, p.F1146S, or p.V1184A, in independent families. A founder mutation, SCN11A p.R222H was confirmed to be frequently observed in patients with FEP in the Tohoku region of Japan. We also identified two novel missense variants of SCN11A, p.F814C and p.F1146S. To evaluate the effects of these latter two mutations, we generated knock-in mouse models harboring p.F802C (F802C) and p.F1125S (F1125S), orthologues of the human p.F814C and p.F1146S, respectively. We then performed electrophysiological investigations using dorsal root ganglion neurons dissected from the 6-8 week-old mice. Dissected neurons of F802C and F1125S mice showed increased resting membrane potentials and firing frequency of the action potentials (APs) by high input-current stimulus compared with WT mice. Furthermore, the firing probability of evoked APs increased in low stimulus input in F1125S mice, whereas several AP parameters and current threshold did not differ significantly between either of the mutations and WT mice. These results suggest a higher level of excitability in the F802C or F1125S mice than in WT, and indicate that these novel mutations are gain of function mutations. It can be expected that a considerable number of potential patients with FEP may be the result of gain of function SCN11A mutations.