Background Approximately 50–70% of patients with Kawasaki disease (KD) could present with cervical lymphadenopathy associated with deep neck inflammation, which may result in Grisel’s syndrome (GS). Given the possibility of neurological impairment owing to GS, it is important to understand the disease profile in KD. Therefore, we carried out this study to investigate this possible complication of KD, with the aim of improving pediatricians’ recognition and awareness. Methods Patients with KD complicated by GS in our hospital were retrospectively recruited for our study. The profiles of patients with GS (n = 10) were compared to those patients without GS (n = 1254). All the available literature describing these complications of KD was reviewed. Results The incidence of GS in KD was 0.6% in our population. Compared to patients without GS, KD patients with GS were older, presented with a significantly lower male:female ratio, and a higher incidence of cervical lymphadenopathy, a higher level of neutrophil count, and erythrocyte sedimentation rate. Ten articles reporting 14 KD patients with GS were reviewed. Of the total 24 patients, GS affected 7 males and 17 females, aged from 3.5 to 9 years old. Encouragingly, no delayed diagnosis and treatment of KD was found, and all patients received conservative therapy for GS, without intravenous immunoglobulin resistance, coronary artery lesions, and neurological impairment. Conclusions GS is a rare complication of KD with an incidence of 0.6%, predominantly affecting older, female children. The overall outcome of this disorder in KD was satisfactory with conservative therapy. Pediatricians, especially pediatric surgeons, should recognize and be aware of this possible complication of KD to avoid misdiagnosis and overtreatment.

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Deafness is known to occur in more than 400 syndromes and accounts for almost 30% of hereditary hearing loss. The molecular mechanisms underlying such syndromic deafness remain unclear. Furthermore, deafness has been a common feature in patients with three main syndromes, the BÖrjeson-Forssman-Lehmann syndrome, Wildervanck syndrome, and Congenital Generalized Hirsutism, all of which are characterized by loss-of-function mutations in the Fgf13 gene. Whether the pathogenesis of deafness in these syndromes is associated with the Fgf13 mutation is not known. To elucidate its role in auditory function, we generated a mouse line with conditional knockout of the Fgf13 gene in the inner ear (Fgf13 cKO). FGF13 is expressed predominantly in the organ of Corti, spiral ganglion neurons (SGNs), stria vascularis, and the supporting cells. Conditional knockout of the gene in the inner ear led to sensorineural deafness with low amplitude and increased latency of wave I in the auditory brainstem response test but had a normal distortion product otoacoustic emission threshold. Fgf13 deficiency resulted in decreased SGN density from the apical to the basal region without significant morphological changes and those in the number of hair cells. TUNEL and caspase-3 immunocytochemistry assays showed that apoptotic cell death mediated the loss of SGNs. Further detection of apoptotic factors through qRT-PCR suggested the activation of the mitochondrial apoptotic pathway in SGNs. Together, this study reveals a novel role for Fgf13 in auditory function, and indicates that the gene could be a potential candidate for understanding deafness. These findings may provide new perspectives on the molecular mechanisms and novel therapeutic targets for treatment deafness.

Objective To determine the outcomes in women with pulmonary hypertension (PH) and determine the factors related to adverse outcomes. Methods Data from 684 women with PH admitted to the Affiliated Renji Hospital from January 2001 to December 2020 were collected. Outcomes were compared based on the causes and severity of PH. Results The overall mortality was 2.8%, decreasing from 6.6% in 2001–2005 to 1.7% in 2016–2020 (P = 0.10). Idiopathic PH had the highest mortality (35.3%) and the lowest live birth rate (82.4%). Mortality was similar between moderate and severe PH (5.3% versus 9.7%), but the live birth rate was much lower in severe PH (78.6% versus 89.9%). Hypoxemia and vaginal birth were risk factors of maternal death (odds ratio [OR] 35.28, 95% confidence interval [CI] 1.42–878.75; OR 850.86, 95% CI 5.67–127 606.74, respectively). General anesthesia was a risk factor in the univariate analysis (OR 12.07, 95% CI 3.72–39.15) but was not significant in the multivariate analysis (P = 0.16). Conclusion The mortality rate in this retrospective study was lower than that previously reported. Pregnancy is safe in mild PH but still has a high risk of complications in moderate and severe PH. Hypoxemia is a risk factor for maternal death, but cesarean section may be a protective factor.