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.

Clinical Characteristics of 118 Pediatric Patients With Acute Benign Myositis Associated With Influenza A Virus Infection.

OBJECTIVE: The objective of this study was to investigate the clinical and laboratory features of acute benign myositis associated with influenza A virus infection in children. METHODS: A retrospective analysis was performed on the clinical data of 118 children with acute benign myositis associated with influenza A virus infection who were admitted to the Children's Hospital of Chongqing Medical University during the epidemic period of influenza A from February 2023 to May 2023. RESULTS: (1) Most of the 118 children were preschool- or school-age. The most common symptom was sudden lower limb pain after fever, and bilateral calf myalgia was more common. The muscle enzyme spectrum ranged from 187.21 to 32191.00 µg/L (median: 3053 µg/L). Creatine kinase isoenzymes ranged from 5.15 to 749.7 µg/L (median 41.82 µg/L). Myoglobin ranged from 102.79 to 1200 µg/L (median 674.9 µg/L). (3) Examination: electromyography, muscle color Doppler ultrasound, radiograph and cardiac color Doppler ultrasound in Benign acute childhood myositis in children were rarely positive. (4) Treatment and prognosis: besides bed rest and a reduction of physical activity, oseltamivir treatment, drugs to improve energy metabolism, fluid replacement and alkalinization of symptomatic treatment. All children had a good prognosis without sequelae. CONCLUSIONS: This study summarized and analyzed the clinical characteristics of acute benign myositis associated with influenza A infection in children with the aim of allowing rapid and early diagnosis of the disease and reducing unnecessary diagnostic tests and treatments. Closely monitoring myalgia and the muscle enzyme spectrum is recommended to exclude other neuromuscular and metabolic diseases.

Compound Control of Trajectory Errors in a Non-Resonant Piezo-Actuated Elliptical Vibration Cutting Device.

To improve the machining quality of the non-resonant elliptical vibration cutting (EVC) device, a compound control method for trajectory error compensation is proposed in this paper. Firstly, by analyzing the working principle of non-resonant EVC device and considering the elliptical trajectory error caused by piezoelectric hysteresis, a dynamic PI (Prandtl-Ishlinskii) model relating to voltage change rate and acceleration was established to describe the piezoelectric hysteresis characteristics of EVC devices. Then, the parameters of the dynamic PI model were identified by using the particle swarm optimization (PSO) algorithm. Secondly, based on the dynamic PI model, a compound control method has been proposed in which the inverse dynamic PI model is used as the feedforward controller for the dynamic hysteresis compensation, while PID (proportion integration differentiation) feedback is used to improve the control accuracy. Finally, trajectory-tracking experiments have been conducted to verify the feasibility of the proposed compound control method.

Are afebrile seizures associated with minor infections a single seizure category? A hospital-based prospective cohort study on outcomes of first afebrile seizure in early childhood.

OBJECTIVE: To explore if afebrile seizures associated with minor infections are a single category of seizure, or a set of different kinds of seizures. METHODS: We conducted this prospective cohort study on three kinds of first afebrile seizure: first afebrile seizure associated with gastrointestinal infection (AS-GI), first afebrile seizure associated with nongastrointestinal infection (AS-nGI), and first unprovoked seizure (US). The Kaplan-Meier estimate risks of recurrent seizures were analyzed and compared pairwise. The characteristics of recurrent seizures were also compared pairwise. RESULTS: The Kaplan-Meier estimate risks of recurrent seizure at 2 years of the AS-GI, AS-nGI, and US groups were 6.9%, 23.7%, and 37.8%, respectively. The pairwise differences were significant between the AS-GI and US groups (p < 0.001) and between the AS-GI and AS-nGI groups (p = 0.001), but not significant between the US and AS-nGI groups (p = 0.066). Among unprovoked subsequent seizures in patients with recurrence, the pairwise differences were significant between the AS-GI and US groups (p < 0.001) and between the AS-GI and AS-nGI groups (p = 0.005), but not significant between the US and AS-nGI groups (p = 0.417). SIGNIFICANCE: Afebrile seizures associated with minor infections are indeed of two distinguishable kinds: AS-GI, if free of risk factors such as a family history of epilepsy, had a better prognosis and should be categorized as an acute symptomatic seizure, whereas patients with first AS-nGI, like patients with first US, may have recurrent unprovoked seizures, which suggests this category's essential difference from AS-GI.