In recent years, the rapid development of digital intelligence has provided a new path for rare disease data sharing and injected new power into the progress of research of rare diseases. This research is aimed at summarizing and consolidating relevant literatures on data sharing driven by digital intelligence (DI) in China and abroad, and constructing a local theoretical framework of DI-driven data sharing for rare diseases based on the status of rare diseases in China. Searching PubMed, EMbase, Cochrane, CNKI, Wanfang, and VIP database, we obtain a total of 214 representative literatures. Through literature review, we find that DI technologies have played important roles in different aspects of rare disease data sharing. China, the United States, and Europe have formed their own DI-driven data sharing systems for rare disease. From the theory of " Information Commons", we analyze the gap between China′s current situation and the goal of a " Rare Disease Data Commons". Based on the analysis, we put forward the idea of framework of " DI-STARS". China should develop the Data Sharing system making DI as the core of the system. Meanwhile, China should strengthen the data standardization system, create an innovation-encouraging environment, and build a bridge between different platforms. Using the DI-STARS theory, China will be able to build the " Rare Disease Data Commons" so that the diagnosis and treatment of rare diseases will be enhanced in China to meet the patients′ needs.

Objective:To summarize the clinical characteristics of patients with epilepsy caused by focal cortical dysplasia (FCD), and identify the influencing factors for postoperative seizure controls.Methods:Fifty-seven patients with epilepsy caused by FCD admitted to Department of Neurosurgery, Third Affiliated Hospital of Zhengzhou University from July 2019 to November 2023 were chosen; standard preoperative evaluation, surgery, postoperative management and follow-up were performed. A retrospective study of clinical data, imaging and video electroencephalogram (VEEG) data, surgical approaches, pathological findings, and follow-up data was performed; influencing factors for postoperative seizure controls were analyzed.Results:In these 57 patients with epilepsy caused by FCD, 29 were males (50.88%) and 28 were females (49.12%). Onset age was 30.00 (8.00, 74.50) months, and surgery age was 95.00 (50.00, 138.50) months. Focal to bilateral tonic-clonic seizures (42/57; 73.68%) and epileptic spasms (13/57; 22.81%) were common seizure types. Cranial MRI was positive in 34 patients (59.65%), mainly manifested as abnormal cortical gyri/sulci morphology (17/57; 29.82%). In 43 patients accepted PET-CT, hypometabolic sites were detected in 40 (93.02%), and complete agreement between PET/MRI fusion results and actual lesion sites was noted in 40 (93.02%). FCD type I was noted in 16 patients (28.07%), type II in 39 (68.42%), and type III in 2 (3.51%). By December 2023, 44 (77.19%) had Engel grading I, 4 (7.02%) had grading II, 4 (7.02%) had grading III, and 5 (8.77%) had grading IV. Children with good prognosis (Engel grading I+II) and those with poor prognosis (Engel grading III+IV) showed significant differences in terms of time from first seizure to surgery, positive/negative MRI, and regularity of postoperative ASMs ( P<0.05). Conclusions:Focal to bilateral tonic-clonic seizure is the most common seizure type in patients with epilepsy caused by FCD, and abnormal cortical gyri/sulci morphology is the most common MRI manifestation; PET/MRI fusion imaging is superior to PET-CT or MRI in identifying epileptogenic foci. Poor seizure control can be noted in patients with long onset time to surgery, with negative cranial MRI results, or with irregular postoperative ASMs.

With completing a baseline survey of a large natural population cohort, conducting regular follow-up has become a key factor in further improving the quality of cohort construction and ensuring its sustainable development. Typical cohort follow-up methods include repeat surveys, routine monitoring, and community-oriented surveillance. However, in practical applications, there are often issues such as high costs, difficulty, and high error rates. Telephone follow-up is an important supplementary method to the methods mentioned above, as it has the characteristics of low cost, fast response, and high quality. However, the with difficult organization, quality control is challenging, response rates are low, and management levels vary widely, which limits its widespread use in large-scale population cohort studies. Given the above problems, this study draws on customer relationship management based on the actual needs of the China Northwest Cohort follow-up. It relies on the REDCap electronic data collection platform to build a telephone follow-up management and quality control system. Targeted solutions are provided for key issues in telephone follow-up implementation, including organizational structure, project management, data collection, and process quality control, to improve the quality control level of telephone follow-up comprehensively and thereby enhance the quality and efficiency of follow-up. We hope to provide standardized follow-up programs and efficient quality control tools for newly established and existing cohort studies.

Objective:To explore the clinical manifestations and genetic characteristics of Wolf-Hirschhorn syndrome (WHS) to improve the ability of diagnosis and differential diagnosis of the disease.Methods:The clinical features and auxiliary examinations and treatment of a proband with WHS caused by microdeletion of 4p16.3 segment who admitted to the Third Affiliated Hospital of Zhengzhou University in December 2021 were recorded, and whole exome sequencing (WES) of the family was performed. The prognosis was followed up.Results:The female proband, 11 months old, presented with convulsions at the age of 8 months, with the characteristics of heat sensitivity and cluster seizures, and her identical twin sister had a similar medical history. Physical examination found malnutrition, retarded development, special face, prominent forehead, wide nasal bridge, small jaw, precordial murmur and grade 3/6 murmur in the whole period, hyperactivity of P2, and low limb muscle tone. The whole exon and copy number variation (CNV) test of the family revealed that the proband had a 1.99 Mb heterozygous deletion in the chromosome 4p16.3 segment, including WHSC1 (NSD2), WHSC2 (NEFLA) and other genes. Copy number variation sequencing (CNV-Seq) of the proband and her sister showed 1.97 and 1.92 Mb heterozygous deletion of chromosome 4p16.3, respectively. Genealogical analysis by quantitative polymerase chain reaction revealed that the CNV was de novo, and it was determined to be a pathogenic variant according to the American College of Medical Genetics and Genomics guidelines. The proband took sodium valproate orally, and her sister took oral sodium valproate, zonisamide, and levetiracetam successively, and at the same time they received family rehabilitation training. The age at the last follow-up was 1 year and 8 months. Neither of them had convulsions again in the past 3 months, but the developmental delay was obvious. Conclusion:WHS patients may present with growth retardation, epilepsy, Greek warrior helmet-like special face, and congenital heart disease, and may have microdeletions in the chromosome 4p16.3 segment.

Objective:To investigate the effects of silicon photomutipliers (SiPM) detector and Bayesian penalized likelihood (BPL) reconstruction algorithm on semiquantitative parameters of 18F-FDG PET/CT and diagnostic efficiency for solitary pulmonary nodules/masses compared with traditional photomultiplier tube (PMT) and ordered subsets expectation maximization (OSEM). Methods:From March 2020 to January 2022, 118 patients (76 males, 42 females, age (63.0±10.1) years) newly diagnosed with solitary pulmonary nodules/masses in First Hospital of Shanxi Medical University were prospectively enrolled and underwent 18F-FDG PET/CT imaging with two different PET/CT scanners successively. The images were divided into PMT+ OSEM, SiPM+ OSEM and SiPM+ BPL groups according to PET detector and reconstruction algorithms. The SUV max, SUV mean, metabolic tumor volume (MTV) and total lesion glycolysis (TLG) of pulmonary nodules/masses were measured, then signal-to-noise ratio (SNR) and signal-to-background ratio (SBR) were calculated. One-way analysis of variance and Kruskal-Wallis rank sum test were performed to compare differences of above parameters among groups. ROC curve analysis was used to analyze the optimal threshold of SUV max for the differential diagnosis of pulmonary nodules/masses and AUCs were obtained. Results:There were 83 malignant nodules and 35 benign nodules. The image quality of SiPM+ BPL group (4.23±0.64) was better than that of SiPM+ OSEM group (3.57±0.50) or PMT+ OSEM group (3.58±0.51; F=54.85, P<0.001). There were significant differences in SUV max (7.57(3.86, 15.61) vs 4.95(2.22, 10.48)), SUV mean (4.43(2.28, 9.12) vs 2.84(1.21, 5.71)), MTV (3.54(1.57, 7.67) vs 5.09(2.83, 11.79)), SNR (28.12(12.55, 54.38) vs 20.16(8.29, 41.45)) and SBR (4.03(1.83, 7.75) vs 2.32(0.96, 5.03)) between SiPM+ BPL and SiPM+ OSEM groups ( H values: 16.63-37.05, all P<0.001). The optimal threshold values of SUV max in SiPM+ BPL, SiPM+ OSEM and PMT+ OSEM were 3.31, 2.21, 2.05 with AUCs of 0.686, 0.689, 0.615 for nodules < 2 cm, and were 10.29, 6.49, 4.33 with AUCs of 0.775, 0.782, 0.774 for nodules/masses ≥2 cm. Conclusions:Image quality and parameters of pulmonary nodules/masses are mainly affected by the reconstruction algorithms. BPL can improve SUV max, SUV mean, SBR and SNR, but reduce MTV without significant effect on liver parameters. SiPM+ BPL has a higher diagnostic threshold of SUV max than SiPM+ OSEM and PMT+ OSEM.

Objective: : Dermoid cysts are uncommon in spinal cord tumors, and the phenomenon of their spontaneous rupture into the syrinx cavity is quite rare. We aimed to analyze the imaging characteristics and etiologies, and propose some surgical strategies, for this uncommon phenomenon. Methods: : We retrospectively reviewed 14 cases with spinal dermoid cysts that ruptured into the cervical and thoracic syrinx cavity. There were six male and eight female cases, aged 21 to 46 years, who had lipid droplets in the syrinx cavity from C1 to L3. The dermoid cysts were always located at the conus. Based on patients’ complaints, clinical manifestations, and imaging results, we adopted tumor excision and/or syrinx cavity aspiration in one stage or multiple stages. Results: : Three patients had only a syrinx cavity aspiration surgery due to a history of dermoid cyst excision. Eight patients had dermoid cyst resection and syrinx cavity aspiration in one stage. One patient was operated upon in two stages due to the development of new symptoms at nine months follow-up. Two patients underwent only tumor resection since they did not show similar symptoms or signs caused by the cervicothoracic syrinx. The axial magnetic resonance imaging indicated that the lipid droplets were always not at the center but were eccentric. The clinical effect was satisfactory during the follow-up period in this group. Conclusion : The lipid droplets filled the spinal syrinx cavity, not entirely confined to the central canal. Based on the chief complaints and associated signs, we adopted different surgical strategies and had satisfactory clinical results.

Humans ; Infant, Newborn ; Intensive Care Units, Neonatal ; Logistic Models ; Phenotype ; Risk Factors

Objective To investigate the effects of calmodulin-dependent kinase IIγ (GaMKIIγ) RNA interference on osteoclast differentiation and bone resorption. Methods Three CaMKIIγ recomninant RNA interference vectors were constructed using lentivirus. Negative vector was used to transfect RAW264.7 cells and the multiplicity of infection (MOI) with the optimal transfection efficiency was determined. Recombinant vectors were also used to transfect cells to determine the one with the best interference effect for following experiments.Then, the cells were divided into control group, negative vector group and interference vector group. Five days after virus transfection, osteoclastogenesis and bone resorption function were determined by TRAP staining and dentin resorption lacunae detection. Results Three CaMKIIγ recombinant interference vectors were constructed, and the optimal MOI was 30, under which transfection efficiency was about 81％. The #3 recombinant vector showed the best interference effect and the interference efficiency was up to 78.16％ at mRNA level and 67.02％ at protein level. When compared with control group, the number of multi-nucleated osteoclasts, the number and area of dentin resorption lacunaes in interference vector group decreased 59.99％、54.19％ and 57.94％ respectively (P < 0.01). No significant difference were observed between negative vector group and control group (P> 0.05).Conclusion CaMKIIγ RNA interference significantly inhibits osteoclastogenesis and bone resorption.

Objective The aim of this study was to investigate the effect of Ca2+ /calmodulin - dependent kinase II (CaMKII)γ RNA interference on the expression of nuclear factor of activated T-cells cytoplasmic 1(NFATc1),tyrosine kinase(c-Src)and tartrate resistant acid phosphatase(TRAP)genes,and its role and molecular mechanism in osteoclast differentiation. Methods The CaMKII γ RNA interference vector was constructed by lentivirus and transfected into RAW264. 7 cells. The experiment was di-vided into three groups:A,B and C,which were the control group,negative vector group and interference vector group. After transfec-tion for 12 hours,osteoclasts induced by 50 ng/mL RANKL and the cells were harvested after induction for 5 days. Real-time quanti-tative PCR,Western blot and immunofluorescence were used to detect the expression of NFATc1,TRAP and c-Src genes in three groups. Results The mRNA levels of NFATc1,TRAP and c-Src in the group C decreased by 49. 86% ,43. 65% and 53. 57% ,re-spectively(P<0. 001),and the protein levels decreased by 54. 22% ,46. 75% and 45. 86% ,respectively(P<0. 001). There was no significant difference between the A and the B groups(P>0. 05). The fluorescence intensity of the above genes in the group C was significantly weaker than that in the A and B groups,and the formation of osteoclasts was significantly less than that in the A and B groups. Conclusion CaMKIIγ RNA interference significantly inhibited the expression of NFATc1,TRAP and c-Src genes,sugges-ting that CaMKIIγ plays a key regulatory role in osteoclast differentiation.

Objective To discuss the clinical effect of music adjunctive therapy (MAT) on patients with persistent vegetative state (PVS) after brain injury. Methods One hundred and eighty-nine patients with PVS after brain injury, admitted to our hospital from January 2013 to January 2018, were divided into two groups: 93 patients in a control group underwent routine treatment, medication (nerve cell nutritional agents, arousal medicine, and vasodilator)+rehabilitation (massage, acupuncture, physiotherapy and hyperbaric oxygen therapy); 96 patients in a treatment group were treated by routine treatment plus MAT for 6 months. Abnormal rate of middle latency auditory evoked potential (ML-AEP) and clinical effects were compared between the two groups one, two, 4 and 6 months after treatment. Results (1) The abnormal rate of ML-AEP 4 and 6 months after treatment was significantly decreased as compared with that before treatment in both two groups (P<0.05); the abnormal rate of ML-AEP in control group 4 and 6 months after treatment (77.42％ and 65.59％) was significantly higher than that in the treatment group (55.21％ and 40.63％). (2) Total effective rate in the treatment group (91.18％) was significantly higher than that in the control group (79.57％, P<0.05). Conclusion MAT can promote the recovery of consciousness and neurological function in PVS patients after brain injury, and it is simple in operation, which is worthy of further clinical application.