Thermal, photonic, and electrocatalysis in lignin depolymerization research.

In order to realize a sustainable bio-based future, it is essential to fully harness the potential of biomass, including lignin - a readily available biopolymer that ranks second in abundance and serves as a renewable source of aromatics. While lignin has traditionally been used for lower-value applications like fuel and power generation, unlocking its higher-value potential through diverse conversion and upgrading techniques is of paramount importance. This review focuses on the catalytic conversion of lignin, with a specific emphasis on selective depolymerization, a process that not only supports economically and environmentally sustainable biorefineries but also aligns with Green Chemistry principles, mitigating adverse environmental impacts. Furthermore, we provide a comprehensive discussion of reaction pathways and mechanisms, including C-O and C-C bond cleavage, among different catalysts. Lastly, we analyze and briefly discuss the prospects of rational catalyst design in biomass valorization.

Application of distance education in radiological health continuing education and training / 中国辐射卫生

The implementation of distance education in radiological health continuing education and training was analyzed to provide a reference for improving the quality of radiological health continuing education. The significance, measures, and advantages revealed that the application of distance education in radiological health continuing education and training was conductive to improving the quality of training and fulfilled the needs of radiological health technicians for high-quality training resources. In the future, we will continue to implement and improve distance education, promoting the high-quality development of radiological health continuing education and training.

The progress of research on transposons in diagnosis and treatment of urological malignancies / 中华泌尿外科杂志

Transposons are the most prevalent elements in human genomes, which plays a vital role in gene expression regulation and evolutionary processes. They also jeopardize genome integrity with the characteristics of jumping and insertions. A delicate balance is maintained between the benefits and deleterious aspects of transposons, mediated by the epigenetic regulatory system. Once the balance is broken, it will give rise to genomic instability, leading to neoplasia. A lot of studies have shown that the transcriptional activation, expression products and methylation of transposons are closely related with urological malignancies, holding tremendous potential as biomarkers for risk and effect prediction, noninvasive diagnosis and targeted therapies of urological malignancies. In this article, the molecular mechanisms of transposons underlying the initiation, promotion and progression of urological malignancies as well as advances in diagnosis and treatment are reviewed.

Analysis of national quality control testing training on radiodiagnostic and radiotherapy equipment from 2018 to 2022 / 中国辐射卫生

Objective To analyze the implementation of national training on quality control testing of radiodiagnostic and radiotherapy equipment from 2018 to 2022, and to summarize the effects of the training program. Methods We collected and analyzed the information on the national training program for quality control testing of radiodiagnostic and radiotherapy equipment organized by the National Institute for Radiological Protection, Chinese Center for Disease Control and Prevention from 2018 to 2022. Results Five sessions of national training on quality control testing of radiodiagnostic and radiotherapy equipment were conducted from 2018 to 2022, with each session lasting four days. The proportion of teachers with senior professional titles was 87.5% (35/40). There were a total of 1045 attendances for radiological technician training, among which 75.1% (785/1045) had intermediate or lower technical titles and 87.1% (910/1045) had a bachelor’s degree or above. The qualified rate of training was 97.7% (905/926). In terms of the content, arrangement, and other key parts of training, the degrees of satisfaction of the trainees were all above 96.0%. Conclusion The national training program for quality control testing of radiodiagnostic and radiotherapy equipment worked well, with both the qualified rate and satisfaction degree above 95.0%. The program has helped professionals better understand and master the quality control testing of radiodiagnostic and radiotherapy equipment, and improved the high-quality development of continuing radiological education.

Progress of diagnosis and treatment for gastrointestinal neuroendocrine neoplasms / 肿瘤研究与临床

Gastrointestinal neuroendocrine neoplasm (GI-NEN) is an important part of digestive system tumor. With the progress of diagnosis and the further understanding of GI-NEN, the diagnostic rate is increasing. However, GI-NEN is a rare tumor, thus clinicians are not familiar with the diagnosis and treatment. Misdiagnosis and missed diagnosis of GI-NEN often occur, and the treatment regimen is not standardized. In recent years, some progresses of the diagnosis and treatment have been made in GI-NEN, especially in the aspects of pathology, imaging diagnosis, radionuclide therapy, targeted therapy and immunotherapy, which have improved the diagnosis rate and efficacy for GI-NEN. This paper reviews recent literatures of GI-NEN, summarizes its epidemiology, pathological diagnosis, image diagnosis, surgery, targeted therapy, radionuclide therapy, chemotherapy, immunotherapy, and separates GI-NEN into metastatic and non-metastatic groups for detailed review to provide a reference for guiding clinical diagnosis and treatment as well as exploring the new treatment regimens of GI-NEN.

Faeces from malnourished colorectal cancer patients accelerate cancer progression.

BACKGROUD: Malnutrition has been confirmed to play an important role in colorectal cancer (CRC) progression via the gut microenvironment. However, the characteristics of the gut microbiota or its potential biological mechanism in CRC remain inconclusive. METHODS: In this work, Patient-Generated Subjective Global Assessment (PG-SGA) tool and 16sRNA sequencing were prepared to detect the variation in gut microbiota and the association between nutrition status and gut microbiota. RDA/CCA analysis was used to evaluate the relationship between faecal microbiota from malnourished CRC and clinical nutrition indicators. To investigate the mechanism of the gut microbiota in CRC, faecal samples from malnourished CRC patients were transplanted into C57BL/6J and DSS/AOM mouse models. Moreover, FACS and IHC were prepared to detect the infiltration of B cells and macrophages. qPCR and Elisa assays were performed to explore the expression of cytokines. RESULT: We found dramatic variation in the faecal microbiota among patients with different nutritional statuses, discovering that specific microbiota species, namely, Atopobium vaginae, Selenomonas sputigena and Faecalibacterium prausnitzii, may be considered diagnostic biomarkers in malnutrition and indicate poor prognosis. High expression level of A. vaginae in CRC tissues revealed the poorer overall survival compared with low expression level (Mean survival: 23.0 months vs 29.0 months). Faecal from malnourished colorectal cancer were found to be protumorigenic. More importantly, our evidence suggests that after faecal microbiota transplantation, B cells and macrophages are recruited to activate specific tumour immunity in CRC. Depletion of B cells significantly suppressed faecal microbiota-induced M2b polarization as well as the protumorigenic activity of tumour-associated macrophages in vivo. CONCLUSION: Faecal microbiota in CRC under malnutrition conditions exhibits specific characteristics that accelerate CRC progression and regulate B cells and macrophages. The use of specific faecal microbial species could be a feasible approach for identifying the malnutrition status of patients and demonstrating the poor prognosis of CRC.

Elabela alleviates diabetic kidney disease by regulating aquaporin 2 / 中华内分泌代谢杂志

Objective:To assess the renal-protective effect of Elabela (Ela) on diabetic kidney disease (DKD), and explore its potential mechanism.Methods:db/db mice were randomly divided into diabetic group and Ela intervention group, while db/m mice were taken as normal control group. The mice in the Ela intervention group were intraperitoneally injected with Ela-21 5 mg·kg -1·d -1 for 8 weeks. At the end of the experiment, urinary albumin/creatinine ratio (UACR) was measured. The renal pathological changes were observed by HE and PAS staining. The expression of aquaporin 2(AQP2) examined by immunohistochemistry. The level of collage Ⅳ(Col-Ⅳ) and AQP2 in renal tissue was analyzed by Western blot. The human renal tubular epithelial cells (HK-2) were incubated with high glucose medium and further interfered with apelin receptors (APJ)-siRNA. Western blot analysis was used to detect the effect of Ela intervention on Col-Ⅳ and AQP2 expression. Finally, to clarify the possible mechanism of Ela regulating AQP2, the interaction between Ela-induced APJ activation and arginine vasopressin (AVP)-evoked arginine vasopressin receptor 2 (AVPR2) activation was investigated by NanoBit ? technology. Results:(1) Without affecting blood glucose and body weight, Ela intervention significantly reduced the UACR in db/db mice, and attenuate pathological changes of the kidney, as well as expression of Col-Ⅳ and AQP2. (2) Ela treatment could remarkably inhibit the high glucose-induced the expression of Col-Ⅳ and AQP2, which was reversed by interfering with APJ. (3) AVP-induced downstream β-Arrestin-2 signaling transduction via AVPR2 was obviously antagonized by interaction of Ela and APJ, further suggesting that the inhibitory effect of Ela on AQP2 may be related to antagonizing AVP/AVPR2 signaling.Conclusion:Ela exerts renal protection by inhibiting the expression of AQP2 through APJ.

Application of case-based learning combined with problem-based learning teaching model in refresher training of medical imaging technologists / 中华医学教育探索杂志

Objective:To explore the application effect of case-based learning (CBL) combined with problem-based learning (PBL) teaching model in refresher training of medical imaging technologists.Methods:The study recruited 46 imaging technologists trained in radiology department in the Batch 2017 and Batch 2018 of West China Hospital of Sichuan University. They were divided into 2 groups: experimental group (23 persons) and control group (23 persons). CBL combined with PBL teaching method was used in the experimental group, and traditional lecture-based learning (LBL) method was used in the control group. The results of attitude evaluation, staged exminations, graduation assessment and operational skill tests were compared between the two groups, and the questionnaire survey was performed to test the affirmation of self-worth of the two groups of interns. SPSS 17.0 was used for chi-square test, independent t test, and Mann-Whitney U test. Results:Theoretical examination results at the second stage, the third stage, completion and operational examination results in the experimental group were significantly higher than those in the control group [(91.17±2.59) vs. (85.26±3.03), (92.00±1.86) vs. (87.43±3.23), (92.39±2.08) vs. (87.04±2.93), (85.70±5.48) vs. (80.87±5.57), P<0.05]. The questionnaire survey showed that such 7 aspects as the stimulation of subject interest, the cultivation of exploration spirit, the exercise of self-learning ability, the establishment of clinical ideas, the analysis of difficult problems, the mastering of practical operations, and the affirmation of self-worth in the experimental group were better than those in the control group, with significant difference ( P<0.05), while the consolidation of theoretical knowledge of the experimental group was not statistically different from the control group ( P>0.05). Conclusion:The reasonable application of CBL combined with PBL teaching model in refresher training of medical imaging technologists is helpful to improve their learning enthusiasm, self-learning ability, clinical analysis ability, practical operation ability, and long-term consolidation of theoretical knowledge.

Endoplasmic reticulum stressed promotes colorectal cancer cell proliferation and invasion through ATG5-mediated autophagy pathway / 中华内分泌外科杂志

Objective:To explore the effect of endoplasmic reticulum stressed (ER) on colorectal cancer (CRC) cell proliferation and invasion via ATG5-mediated autophagy pathway and the underlying mechanism.Methods:We performed bioinformatics analysis to identify the expression level of PERK, ATF6 and ATG5 in CRC tissues and adjacent tissues and the correlation between PERK and ATG5 expression in CRC tissues.The expression level of PERK in CRC cell lines was examined by qRT-PCR assay. Cell proliferation was quantified by CCK-8.The invasion of the cells was detected by Transwell.Western blot assay was performed to verify the levels of protein. The levels of autophagy were examined by electron microscopy.Results:PERK and ATF6 expression in CRC tissues was higher than that in the adjacent tissues and PERK expression was higher in CRC cells than intestinal mucosal cells. Expression level of PERK in CRC cell lines HCT116,SW480,HT29,LoVo and colonic mucosa cell lines FHC was 1.51±0.04,3.12±0.05,2.19±0.04,2.38±0.06 and 0.98±0.04 ( P<0.001) .The increased expression of PERK promoted CRC cell proliferation and invasion. PERK expression levels was positively associated with ATG5 expression levels ( r=0.52, P<0.001) and overexpression of PERK accelerated the protein expression of ATG5 (1.00±0.04,3.53±0.07, t=74.61, P<0.001) . ATG5 was highly expressed in CRC tissues. Overexpression of ATG5 could promote proliferation,invasion and accelerate autophagy of CRC cells (the number of autophagosomes in the blank control group,the negative control group and ATG5-Overexpression group was 4.33±1.53, 4.00±1.00, 9.67±2.52, and t=3.14,3.62, P=0.035,0.022, respectively) .ATG5 promoted colorectal cancer cell proliferation and invasion through autophagy pathway. Conclusion:ER stressed-CRC cells could promote CRC cell proliferation and invasion through ATG5-mediated autophagy pathway.

Prevention， Treatment， and Recuperation of Infection with SARS-CoV-2 Variants by Traditional Chinese Medicine Based on Idea of Epidemic Prevention of Jiangnan Medical School / 中国实验方剂学杂志

Because of the frequent occurrence of epidemics in Jiangnan since ancient times， the local medical schools have accumulated rich experience in epidemic prevention， among which Yushan medical school， Wumen medical school， and Qiantang medical school are famous. The physicians have inherited the theory in Treatise on Cold Damage Diseases and developed the therapies for febrile diseases. Adhering to the idea of integrating cold and febrile diseases， the physicians in Jiangnan flexibly adapt ZHANG Zhongjing's theory by combining regional climate， patient physique and other factors to explain the pathogenesis， which is of great significance for the prevention and treatment of epidemics. Therefore， traditional Chinese medicine （TCM） has demonstrated good curative effect on coronavirus disease-2019 （COVID-19） in China. However， the SARS-CoV-2 variants （Delta and Omicron） characterized by strong infectivity， pathogenicity， and immune escape capacity keep emerging， which bring great challenges to the global prevention and control of this pandemic. To this end， we studied the ways of Jiangnan medical school for the prevention and treatment of epidemics， reviewed the evolution of TCM treatment protocols for COVID-19， and summarized China's experience in fighting against the emerging SARS-CoV-2 variants. Further， we explored the measures of TCM in treating SARS-CoV-2 variants from prevention， treatment， and rehabilitation according to the theory for epidemic prevention of Jiangnan medical school. This paper provides reference for the prevention and treatment of emerging SARS-CoV-2 variant and facilitates the development of TCM epidemiology.

A dietary intervention study on the effects of different dietary structures on postprandial drowsiness / 上海预防医学

ObjectiveTo find the type of dietary structure that can effectively prevent or improve postprandial sleepiness in the Chinese population， and provide scientific basis and solutions for improving or avoiding postprandial sleepiness. MethodsIn this study， a six-day dietary intervention trial was conducted for 20 volunteers on four different diets （normal diet， high-fat diet， high-carbohydrate diet and healthy diet）. ResultsThe results showed that sleepiness increased after all four types of meals， but decreased after 30 minutes in the healthy balanced diet group； meanwhile， it increased for 60 minutes before it declined in the high-carbohydrate， high-fat， and normal diet （control） group. At 60 minutes after meal， the drowsiness of the healthy balanced diet group was the weakest， and that of the high carbohydrate diet groups was the strongest， while that of the normal diet group and the high fat diet group was intermediate （P<0.000 1）. Postprandial sleepiness was positively correlated with intake of carbohydrate and manganese， and negatively correlated with intake of protein， some mineral elements and vitamins. ConclusionThese results suggest that controlling carbohydrate and fat intake and appropriately increasing the intake of mineral elements and vitamins in a healthy and balanced diet can significantly improve and prevent postprandial sleepiness.

Problems and suggestions in the implementation of integrated curriculum reform of the digestive system / 中华医学教育探索杂志

The organ-system-centered medical integrated teaching mode has become the trend of modern medical education. This model combines basic medicine with clinical medicine closely. It has been widely conducted domestically and abroad for training qualified clinicians as the main task. This paper summarized the experience of integrated curriculum reform of the digestive system in Chongqing Medical University, analyzed the performance of students involved in curriculum reform, explored the problems in the curriculum reform combined with the actual situation of Chongqing Medical University, and investigated possible solutions to accumulate the experience for further deepening the integrated curriculum reform.

A Pooled Study of Angiotensin-Converting Enzyme Insertion/Deletion Gene Polymorphism in Relation to Risk, Pathology and Prognosis of Childhood Immunoglobulin A Vasculitis Nephritis.

The angiotensin-converting enzyme (ACE) insertion/deletion (I/D) gene polymorphism has been inconsistently reported to be a risk factor for Childhood immunoglobulin A vasculitis (IgAV) nephritis. We comprehensively searched electronic databases as of Jan 2020. Nineteen studies with 1104 cases and 1589 controls were included. Sensitivity analyses based on different subgroups were performed. Further analyses were conducted for association of ACE polymorphism with disease severity and prognosis. Significant associations were found between ACE I/D polymorphism and childhood IgAV nephritis, with the strongest association in DD vs. II comparison (OR 1.72, 95% CI 1.21-2.46). Subgroup analyses generally showed significant results. Besides, ACE polymorphism was significantly associated with proteinuria (DD + DI vs. II: OR 2.22, 95% CI 1.14-4.33; DI + II vs. DD: OR 0.49, 95% CI 0.30-0.81) and worse prognosis (the strongest effect in DD + DI vs. II: OR 4.43, 95% CI 1.84-10.71) among children with IgAV nephritis. The ACE polymorphism seemed not to be associated with hematuria, hypertension, and renal pathology. This study suggested significant association of ACE gene polymorphism with the risk of IgAV nephritis in children. D allele in the ACE genotype could be a useful genetic marker to predict proteinuria and worse prognosis for childhood IgAV nephritis.

Exploration and practice of oxygen supply management in designated hospitals under COVID-19 epidemic situation / 中华医院管理杂志

In the COVID-19 outbreak, several general hospitals in Wuhan were transferred to designated hospitals. However, most of the designated hospitals had suffered from insufficient oxygen supply in different degrees. Taking a designated hospital as an example, this paper summarized the emergency management system of oxygen supply from the aspects of engineering transformation, process formulation and safety management through the PDCA cycle theory, discussed the management experience of oxygen supply under the epidemic situation, and explored the management mode of emergency normalization from the perspective of peacetime and wartime integration. The purpose was to provide reference for the management of medical oxygen supply in public health emergencies and normal operation.

Application of Total Quality Management in project management of National Natural Science Foundation of China / 中华医学科研管理杂志

Objective:To explore a new model of Total Quality Management in project management of National Natural Science Foundation of China (NSFC).Methods:The theory of Total Quality Management is applied to the management of NSFC funded project, that is, a complete and comprehensive process formed which covered the different stages of project cultivation, application, identification, implementation, completion and post-completion tracking; and the management concepts of whole process personnel engagement and comprehensive quality management are penetrated into those different stages, furthermore, corresponding key points should be focused are also analyzed.Results:The hospital has made great achievements in scientific research management, project quantity, outputs, and discipline construction.Conclusions:The introduction of Total Quality Management theory into NSFC management is conducive to continuously improve the level of fund management, and enhance the scientific and technological innovation capacity building of the hospital.

Bioinformatics analysis of key toxicity pathways in the mode of action of oral exposure to hexavalent chromium / 环境与职业医学

Background Oral exposure to hexavalent chromium [Cr(VI)] can lead to gastrointestinal tumorigenesis in mice, and the mechanism is not yet clear. To predict health risk due to chemical exposure, data mining and computational toxicology analysis has become an important tool in toxicology research, which can help to elucidate mode of action (MOA) and identify key toxicity pathways. Objective This study aims to identify and evaluate key events in the MOA of oral Cr(VI) exposure. Methods Gene sets established from Comparative Toxicogenomics Database (CTD) and Gene Expression Omnibus (GEO) respectively were imported into Ingenuity® Pathway Analysis (IPA) software for pathway enrichment analysis and biological function analysis to identify potential key toxicity pathways of target organs/tissues toxicity of oral exposure to Cr(Ⅵ). Next, the weight of evidence (WOE) of the identified key toxicity pathways in the MOA of oral exposure to Cr(VI) was evaluated based on the modified Bradford Hill principle. Results A total of 54 pieces of literature related to oral Cr(VI) exposure were screened in CTD, among which 18 and 9 were related to liver and intestine with 125 and 272 corresponding genes, respectively. The pathway enrichment and biological function analysis results showed that liver and intestinal perturbation pathways were mainly related to cell stress and injury, cell cycle regulation, and apoptosis, indicating that Nrf2 pathway and AHR pathway might be the key toxicity pathways involved in the cytotoxic-mediated MOA. Meanwhile, the dose (≥170 mg·L−1 sodium dichromate) and the time point (90 d) of the activation of Nrf2 pathway was similar to the emergence of crypt cell proliferation. It was proposed that Nrf2 pathway activation might be a key event for cytotoxic-mediated MOA of small intestinal tumors. The WOE results showed moderate validity of evidence in this hypothesis, with high validity of evidence for biological plausibility and dose-response manner. Conclusion Nrf2 pathway activation might be the key event in the cytotoxic-mediated MOA of small intestinal tumors induced by oral exposure to Cr(VI) via initiating or maintaining crypt cell proliferation.

The research progress of DNA methylation in bladder cancer / 中华泌尿外科杂志

Bladder cancer is a malignant tumor of the urinary system with the highest and still increasing incidence rate in China in recent years. While most patients with a diagnosis of non-muscle invasive bladder cancer (NMIBC) have a good prognosis, NMIBC is prone to relapse and progress to muscular invasive cancer (MIBC) after treatment, leading to a poor prognosis. At present, diagnosis and postoperative follow-up of bladder cancer still rely on invasive cystoscopy, and there is a lack of effective treatment for advanced tumors. The results show that methylation, as a chemical modification of DNA, is related to the occurrence and development of bladder cancers. This article reviews the research progress of bladder cancer DNA methylation in diagnosis, monitoring and treatment in recent years.

Progress in research and application of molecular changes in prostate cancer in China and the West / 中华泌尿外科杂志

In recent years, with the development of sequencing technology and research on molecular changes in different races of prostate cancer, it has been found that the pathogenesis of prostate cancer showed obvious ethnic differences. This article reviewed the research progress of ETS fusion genes, FOXA1, SPOP, IDH1 and other driver genes in prostate cancer. And the research of molecular typing of prostate cancer showed different patterns of molecular changes in Chinese and western populations. The molecular changes of prostate cancer in western populations were dominated by ETS fusion gene, while those in Chinese populations were dominated by gene mutations, mainly FOXA1 and SPOP mutations. Moreover, the dominant fusion gene in Chinese prostate cancer was not ETS fusion gene, but SCHLAP1-UBE2E3.

Evaluation of myocardial work in anthracycline-treated breast cancer patients by left ventricular pressure strain loop echocardiography / 中华超声影像学杂志

Objective:To evaluate the effect of anthracyclines on myocardial work in patients with breast cancer by left ventricular pressure strain loop (PSL).Methods:From April 2019 to June 2020, 30 breast cancer patients treated with AC-T regimen(Adriamycin/epirubicin+ cyclophosphamide+ docetaxel) in the Second Affiliated Hospital of Harbin Medical University were selected as case group, and 30 healthy volunteer were selected as control group. Transthoracic echocardiography was performed in the case group at 3 time points: before chemotherapy (T0 phase), after the third cycle of chemotherapy (T1 phase), and after the sixth cycle of chemotherapy (T2 phase) respectively. Conventional ultrasonic parameters were collected. Left ventricular PSL was used to evaluate the left ventricular myocardial work index, including global work index (GWI), global constructive work (GCW), global work waste (GWW) and global work efficiency (GWE). The same examination was performed in the control group, and the results between T0 phase and control group, among different phases were compared.Results:①There were no statistically significant differences of general information, conventional ultrasound parameters, left ventricular strain and myocardial work parameters between T0 phase and control group (all P>0.05). ②There were no statistically significant differences of LVEF, GLS, GWI, GCW, GWE and GWW between T1 phase and T0 phase (all P>0.05). ③There were no statistically significant differences in LVEF between T2 phase and T0 phase ( P>0.05). The absolute values of GLS, GWI, GCW and GWE decreased, but GWW increased, the difference was statistically significant (all P<0.05). ④There were no significant differences in LVEF between T2 phase and T1 phase ( P>0.05), but the absolute values of GLS, GWI, GCW and GWE decreased, while GWW increased (all P<0.05). Conclusions:Left ventricular PSL can effectively evaluate the myocardial work of anthracycline chemotherapy in breast cancer patients, which is superior to LVEF and provide a new evaluation method for asymptomatic patients.

Clinical and genetic analysis of a child with mental retardation and microcephaly with pontine and cerebellar hypoplasia / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical phenotype and pathogenic variant in a child diagnosed with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).@*METHODS@#Clinical phenotype of the child was reviewed. Whole exome sequencing was carried out for the child. Candidate variant was verified by Sanger sequencing of the family member.@*RESULTS@#The proband manifested dyskinesia, development delay, cerebellar hypoplasia and bilateral hearing impairment. WES results revealed that the proband has carried a pathogenic c.1641_1644delACAA (p.Thr548Trpfs*69) variant of the CASK gene, which was verified by Sanger sequencing to be a de novo variant.@*CONCLUSION@#The c.1641_1644delACAA (p.Thr548Trpfs*69) variant of the CASK gene probably underlay the MICPCH in the proband. Above finding has provided a basis for genetic counseling. WES should be considered for the diagnosis of neurological dysplasia.