[Non-muscle myosin heavy chain 9 gene-related disorders with thrombocytopenia: report of two pedigrees and literature review].

Objective: To summarize the clinical characteristics and gene variants of 2 pedigrees of non-muscle myosin heavy chain 9 related diseases (MYH9-RD) in children. Methods: The basic information, clinical features, gene variants and laboratory tests of MYH9-RD patients from 2 pedigrees confirmed in the First Affiliated Hospital of Zhengzhou University in November 2021 and July 2022 were analyzed retrospectively. "Non-muscle myosin heavy chain 9 related disease" "MYH9" and "children" were used as key words to search at Pubmed database, CNKI and Wanfang database up to February 2023. The MYH9-RD gene variant spectrum and clinical data were analyzed and summarized. Results: Proband 1 (male, 11 years old) sought medical attention due to epistaxis, the eldest sister and second sister of proband 1 only showed excessive menstrual bleeding, the skin and mucous membrane of the their mother were prone to ecchymosis after bumping, the uncle of proband 1 had kidney damage, and the maternal grandmother and maternal great-grandmother of proband 1 had a history of cataracts. There were 7 cases of phenotypic abnormalities in this pedigree. High-throughput sequencing showed that the proband 1 MYH9 gene had c.279C>G (p.N93K) missense variant, and family verification analysis showed that the variant was inherited from the mother. A total of 4 patients including proband 1 and family members were diagnosed with MYH9-RD. The proband 2 (female, 1 year old) sought medical attention duo to fever and cough, and the father's physical examination revealed thrombocytopenia. There were 2 cases of phenotypic abnormalities in this pedigree. High-throughput sequencing showed that there was a c.4270G>A (p.D1424N) missense variant in the proband 2 MYH9 gene, and family verification analysis showed that the variant was inherited from the father. A total of 2 patients including proband 2 and his father were diagnosed with MYH9-RD. A total of 99 articles were retrieved, including 32 domestic literatures and 67 foreign literatures. The MYH9-RD cases totaled 149 pedigrees and 197 sporadic patients, including 2 pedigrees in our study. There were 101 cases with complete clinical data, including 62 sporadic cases and 39 pedigrees. There were 56 males and 45 females, with an average age of 6.9 years old. The main clinical manifestations were thrombocytopenia, skin ecchymosis, and epistaxis. Most patients didn't receive special treatment after diagnosis. Six English literatures related to MYH9-RD caused by c.279C>G mutation in MYH9 gene were retrieved. Italy reported the highest number of cases (3 cases). Twelve literatures related to MYH9-RD caused by c.4270G>A mutation in MYH9 gene were retrieved. China reported the highest number of cases (9 cases). Conclusions: The clinical manifestations of patients in the MYH9-RD pedigrees varied greatly. MYH9 gene c.279C>G and c.4270G>A mutations are the cause of MYH9-RD.

[Clinical characteristics and prognosis of 83 children with newly treated hepatoblastoma].

Objective: To investigate the clinical features, survival and prognostic risk factors of children with hepatoblastoma (HB). Methods: Clinical data of 83 children with newly treated HB at the Department of Hematology and Oncology, Children's Hospital, the First Affiliated Hospital of Zhengzhou University from January 2012 to October 2019 were analyzed retrospectively. The sex, age, first clinical manifestations, pretreatment extent of disease (PRETEXT) stages, pathological types, initial alpha-fetoprotein (AFP), treatment methods and treatment outcome of all patients were summarized. The children diagnosed before 2018 were treated with "Wuhan Protocol", and those who diagnosed after 2018 were treated with the "Expert Consensus for Multidisciplinary Management of Hepatoblastoma"(CCCG-HB-2016) protocol. Kaplan-Meier survival analysis was used to calculate the survival rate, Log-Rank test was used in univariate analysis, and the Cox regression model was used in multivariate prognosis analysis. Results: Among 83 cases, there were 51 males and 32 females. The age of onset was 25.2 (9.0, 34.0) months old, and 64 cases (77%) were under 3 years old. The most common first clinical manifestation was abdominal mass in 45 cases (54%). There were 8 cases of PRETEXT stage Ⅰ, 43 cases of stage Ⅱ, 20 cases of stage Ⅲ and 12 cases of stage Ⅳ. During the follow-up period of 40 (17, 63) months, the 1-year overall survival (OS) rate and event-free survival (EFS) rate were (84±4) % and (79±5) %, respectively, and 5-year OS rate and EFS rate were (78±5) % and (76±5) %, respectively. Fifty-five cases were treated with "Wuhan Protocol", and the 5-year OS and EFS rate were (73±6) % and (71±6) %, respectively. Twenty-eight cases were treated with CCCG-HB-2016 protocol, and the 5-year OS and EFS rate were (88±7) % and (82±9) %, respectively. Multivariate COX regression analysis showed that AFP did not turn negative after 3 courses of postoperative chemotherapy (HR=9.228, 95%CI 1.017-83.692) and PRETEXT stage Ⅳ (HR=6.587, 95%CI 1.687-25.723) were independent risk factors affecting the prognosis of children with HB. Conclusions: The "Wuhan Protocol" and CCCG-HB-2016 protocol were effective in the treatment of children with HB. AFP did not turn negative after 3 courses of postoperative chemotherapy and PRETEXT stage Ⅳ were independent risk factors affecting the prognosis of children with HB.

Operation of bolometer system using Pt foil on SiN substrate detector for EAST tokamak.

The foil resistive bolometer diagnostic on experimental advanced superconducting tokamak has been upgraded partly with a new generation of detectors. The new detectors have faster response time. However, the microwave interference is still a serious issue for the bolometer system. The system response to microwave is tested, and the test results show that the closed Wheatstone bridge circuit in the detector is the most sensitive component to high power microwave field. Simulation results of microwave transmission by the high frequency structure simulator software and shielding design are also presented.

The resistive bolometer for radiated power measurement on EAST.

The resistive bolometer system has been successfully employed on experimental advanced superconducting tokamak for the first time to measure the radiated power of plasma. The bolometer detectors are based on 4 µm thick Pt absorbers deposited on 1.5 µm thick SiN membranes. The system consists of 3 cameras with a total of 48 channels. The detector and the system setup are described in detail. The detector calibration and typical measurement results are presented as well.

Studies of detrusor-sphincter synergia and dyssynergia during micturition in rats via fractional Brownian motion.

In normal humans, the bladder is supposed to empty by a synergistic contraction of the detrusor and relaxation of the sphincter during micturition. By contrast, suprasacral spinal cord injury (SCI) patients usually will have both of them contract simultaneously and result in the so-called detrusor-sphincter dyssynergia. In this study, the cystometrograms of the detrusor and the electromyograms of external urethral sphincter of intact and SCI female Wistar rats are used to investigate the detrusor-sphincter synergia and dyssynergia during micturition. Due to the statistical self-similarity of the waveforms, the cystometrogram is modeled as discrete-time fractional Brownian motion and the electromyogram as discrete-time fractional Gaussian noise. Fractal dimensions of both of them are calculated and used as indices in the investigation of synergia. Results indicate that, for intact rats, the sphincter muscle is not only active but also recruited in a synchronous fashion with the detrusor. Furthermore, clear-cut measure using the fractal dimensions can be used to diagnose detrusor-sphincter synergia and dyssynergia.

Fractal geometry in urodynamics of lower urinary tract.

The physiological signals are usually extremely complicated and difficult to analyze. Recently, investigators have tried the fractal dimension that can characterize roughness and self-similarity of them. It turns out that it is also suitable for obtaining the modalities of lower urinary tract during normal micturition. In this investigation, the external urethral sphincter electromyogram (EUS EMG) and the cystometrogram (CMG) of the Wistar rats under both room temperature and cold water stimulation of the bladder are studied. The modified relative differential box-counting (RDBC) method is used to calculate the fractal dimensions of EMG and CMG time series. According to the experimental results, the modalities of micturition for the Wistar rats can be characterized as normal if both the fractal dimensions of EMG and CMG are of low values during voiding. Furthermore, the technique is validated in identifying the dyssynergia of the bladder and EUS under cold water stimulation.