Exploring the clinical complexity of cardio-facio-cutaneous syndrome: insights from a pediatric case series.

Background: Cardio-Facio-Cutaneous syndrome (CFCS) is a rare autosomal dominant genetic disorder primarily caused by BRAF gene mutations, posing diagnostic challenges due to its multifaceted clinical presentation. Objective: To elucidate the clinical characteristics of pediatric CFCS patients, expanding the phenotypic spectrum to enhance early diagnostic capabilities, while also presenting the relationship between genotye and corresponding phenotype severity. Methods: From January 2015 to March 2022, four children diagnosed with CFCS in Children's Hospital of Chongqing Medical University were included for analysis. Whole exome sequencing (WES) was conducted to identify the types and locations of possible gene mutations. Neurological development was assessed using electroencephalography (EEG), magnetic resonance imaging (MRI) and Gesell developmental evaluation. Results: All four CFCS patients exhibited de novo BRAF gene mutations, manifesting with cardiac malformations, distinctive facial features, skin and hair changes, and neurological abnormalities. WES revealed that the specific BRAF mutations were closely linked to their clinical severity. Three patients displayed milder symptoms (case 1-3, genotype I or II), demonstrating stability or slight improvement, whereas one patient (case 4, genotype III) suffered from a severe phenotype characterized by profound neurological and digestive system impairments, leading to a significantly reduced quality of life and a grim prognosis. Conclusion: In CFCS patients, severe developmental delay and seizures are predominant neurological features, possibly accompanied by continuous spike-and-wave during sleep (CSWS) and severe sleep disturbances. CFCS generally carries a poor prognosis, underscoring the importance of disease awareness and early genetic testing.

Risk factors for persistent fever in children with infectious mononucleosis.

BACKGROUND: Fever is a common symptom in children with infectious mononucleosis (IM). However, the significance of the duration of a fever is poorly understood. This study aimed to analyze the risk factors for persistent fever in children with IM. METHODS: Patients diagnosed with IM (aged <18 years; except those with concomitant hematological malignancies or tumor diseases) in a high-volume academic hospital in 2019 were reviewed from a prospectively maintained database. Children with transient fever (≤7 days) were compared with those with persistent fever (>7 days). The risk factors for persistent fever in children with IM were examined using binary logistic regression. Furthermore, the predictive ability of these risk factors was assessed and presented using a receiver operating characteristic (ROC) curve. RESULTS: Of the 184 children included in this study, 131 (71.96%) belonged to the transient fever group and 53 (28.04%) belonged to the persistent fever group (median age: 49 and 64 months, respectively; p = 0.093). Statistical significance was observed in hepatomegaly, alanine aminotransferase level, blood triglyceride level, and blood Epstein-Barr virus polymerase chain reaction (EBV-PCR) copy number (all p < 0.05). Binary logistic regression revealed that high blood triglyceride level was the risk factor for persistent fever in children with IM. High blood triglyceride level predicted persistent fever duration with an area under the ROC curve of 0.73 and an optimal cutoff value of 1.315 mmol/L. CONCLUSION: High blood triglyceride level was the risk factor for persistent fever in children with IM. Thus, children with elevated levels of blood triglycerides need additional care. To diagnose IM, a blood EBV-PCR is more useful than a throat-swab EBV-PCR.

Effectiveness and safety of probiotic therapy for pediatric allergic rhinitis management: A systematic review and meta-analysis.

OBJECTIVE: This meta-analysis aimed to evaluate the effectiveness and safety of probiotics for allergic rhinitis (AR) management in children. METHODS: In total, 6 databases were searched, and 26 randomized controlled trials that compared the effects of probiotics with those not using probiotics in pediatric AR were included. Methodological quality was assessed using the Cochrane risk-of-bias tool. Data for relevant endpoints were extracted and analyzed. RESULTS: Our meta-analysis of the effectiveness of probiotics for pediatric AR showed that probiotics improved the remission rate of nasal symptoms (risk ratio (RR) 1.21, 95% confidence interval (CI) 1.04 to 1.40; P = 0.01), reduced the Total Nasal Symptoms Scores (TNSS) (weighted mean difference (WMD) -2.58, 95% CI -2.77 to -2.39; P < 0.00001) and the total scores of Pediatric Rhinoconjunctivitis Quality of Life Questionnaire (PRQLQ) (for frequency of symptoms: WMD -9.51, 95% CI -10.34 to -8.69; P < 0.00001; and for level of bother: WMD -9.27, 95% CI -10.13 to -8.41; P < 0.00001). Furthermore, they reduced the serum levels of interleukin-4 (IL-4) (WMD -13.86 ng/L, 95% CI -15.92 to -11.81; P < 0.00001), IL-6 (WMD -13.70 pg/mL, 95% CI -16.34 to -11.07; P < 0.00001), and IL-17(WMD -5.41 pg/mL, 95% CI -7.29 to -3.52; P < 0.00001), and significantly elevated the serum levels of interferon-γ (WMD 9.08 ng/L, 95% CI 8.10 to 10.06; P < 0.00001) and IL-10 (WMD 7.82 pg/mL, 95% CI 5.01 to 10.63; P < 0.00001). Probiotics also reduced the duration of cetirizine use in pediatric AR (WMD -2.88 days, 95% CI -4.50 to -1.26; P < 0.0005). No obvious adverse reactions were found to be related to probiotic treatment. CONCLUSIONS: This meta-analysis indicated that probiotic therapy can partially improve pediatric AR outcomes, assisted by modulating immune balance and reducing anti-allergic medication use, without obvious adverse reactions.

Slight asymmetry induces significant distortion of soot volume fraction measurements in counterflow diffusion flames with diffuse back-illumination imaging.

Counterflow diffusion flame is a favorable platform for fundamental investigation of soot kinetics. A diffuse back-illumination imaging technique for measuring soot volume fractions in these flames was rigorously demonstrated here. It was noticed that the technique is extremely sensitive to slight asymmetry of the flame. Misleading conclusions could be drawn due to the surprisingly large distortion of the measured SVF profile caused by flame tilting, even when the tilting is so slight as to be undetectable through the flame images. To address this issue, the effect of the flame tilting on soot measurements were quantitatively analyzed and a novel procedure was proposed to identify and correct the measurement distortions.

Bushen Yijing Fang Reduces Fall Risk in Late Postmenopausal Women with Osteopenia: A Randomized Double-blind and Placebo-controlled Trial.

Falls in late postmenopausal women with osteopenia usually cause fractures with severe consequences. This 36-month randomized, double-blind and placebo-controlled trial with a 10-year observational follow-up study aimed to investigate the long-term effect of herbal formula Bushen Yijing Fang (BSYJF) on fall risk in the late postmenopausal women with osteopenia. 140 late postmenopausal women (Femoral neck T-score, -2.5~-2 SD) were recruited and randomized to orally receive calcium carbonate 300 mg daily with either BSYJF or placebo for 36 months. The effect was further investigated for another 10-year follow-up. During the 36-month administration, there were 12 falls in BSYJF group and 28 falls in placebo group, respectively, indicating 64% lower risk of falls (RR 0.36 [95% CI, 0.18 to 0.71]; P = 0.004) in BSYJF group. During the 10-year follow-up, 36% lower fall risk (RR 0.64 [95% CI, 0.46 to 0.89]; P = 0.009) was observed in BSYJF group. No significant difference was found in safety profile between two groups. Thirty-six-month administration of BSYJF reduced fall risk with an increase in bone mass, and its latent effect on fall risk was continually observed in the 10-year follow-up in late postmenopausal women with osteopenia. This clinical trial was registered at Chinese clinical trial registry (ChiCTR-IOR-16008942).

The effect of melatonin on cardio fibrosis in juvenile rats with pressure overload and deregulation of HDACs.

The effect of melatonin on juveniles with cardio fibrosis is poorly understood. We investigated whether HDACs participate in the anti-fibrotic processes regulated by melatonin during hypertrophic remodeling. Abdominal aortic constriction (AAC) was employed in juvenile rats resulting in pressure overload-induced ventricular hypertrophy and melatonin was subsequently decreased via continuous light exposure for 5 weeks after surgery. AAC rats displayed an increased cross-sectional area of myocardial fibers and significantly elevated collagen deposition compared to sham-operated rats, as measured by HE and Masson Trichrome staining. Continuous light exposure following surgery exacerbated the increase in the cross-sectional area of myocardial fibers. The expression of HDAC1, HDAC2, HDAC3, HDAC4 and HDAC6 genes were all significantly enhanced in AAC rats with light exposure relative to the other rats. Moreover, the protein level of TNF-α was also upregulated in the AAC light exposure groups when compared with the sham. However, Smad4 protein expression was unchanged in the juveniles' hearts. In contrast, beginning 5 weeks after the operation, the AAC rats were treated with melatonin (10 mg/kg, intraperitoneal injection every evening) or vehicle 4 weeks, and sham rats were given vehicle. The changes in the histological measures of cardio fibrosis and the gene expressions of HDAC1, HDAC2, HDAC3, HDAC4 and HDAC6 were attenuated by melatonin administration. The results reveal that melatonin plays a role in the development of cardio fibrosis and the expression of HDAC1, HDAC2, HDAC3, HDAC4 and HDAC6 in cardiomyocytes.

[Control study for muscle force and component of body of female patients with knee osteoarthritis].

OBJECTIVE: To understand the information of female patients with knee osteoarthritis regarding muscle force, constitution parameter. METHODS: Thirty-seven cases diagnosed as knee osteoarthritis and 37 controls were examined by MES. T-test was used to analysis two groups differences of muscle force, constitution parameter, et al. RESULTS: Compared between affected limbs and controls limbs in patients revealed that the lower limb muscle distribution index of the affected limbs was higher than the control limbs (P<0.05), but comparison in functional status the lower limb muscle force, muscle functional index and muscle force of unit volume of the affected limbs were lower than the control limbs (P<0.05). Compared between patients group and control group the muscle force of both lower limbs, muscle functional index and muscle force of unit volume were lower than control group (P<0.001). CONCLUSION: The utility muscle force of lower limbs of female patients with knee osteoarthritis is weaker than healthy female. Muscle function disorder instead of muscle atrophy is the key cause of the weakness.