Objective:To compare the early therapeutic effects of internal fixation with percutaneous minimally invasive hollow nail assisted by electromagnetic navigation robot and guided by C-arm in the treatment of Tile type C pelvic fracture.Methods:A retrospective cohort study was conducted to analyze the clinical data of 32 patients with Tile type C pelvic fracture admitted to Weihai Central Hospital from January 2020 to March 2022, including 18 males and 14 females; aged 36-60 years [(44.1±3.9)years]. Among them, 17 patients were treated with internal fixation with percutaneous minimally invasive hollow nail assisted by electromagnetic navigation robot (electromagnetic navigation group), and 15 with internal fixation with percutaneous minimally invasive hollow nail guided by C-arm (C-arm guidance group). Operative time, intraoperative blood loss, sacroiliac screw placement time, pubic branch screw placement time, ambulation time and fracture healing time were compared between the two groups. Visual analog scale (VAS), Majeed function score and complication rate at 1 day, 6 months, 12 months after surgery and at the last follow-up were compared between the two groups.Results:All the patients were followed up for 12-24 months [(15.4±0.5)months]. The operative time and intraoperative blood loss in the electromagnetic navigation group were (42.0±2.5)minutes and (10.9±2.6)ml, shorter or less than (50.0±3.5)minutes and (14.9±3.1)ml in the C-arm guidance group (all P<0.01). The placement time of sacroiliac screw and pubic branch screw in the electromagnetic navigation group was (12.4±0.2)minutes and (10.1±0.3)minutes, shorter than (15.3±0.3)minutes and (13.2±0.3)minutes in the C-arm guidance group (all P<0.01). The ambulation time was (3.2±0.4)weeks in the electromagnetic navigation group, earlier than (3.5±0.4)weeks in the C-arm guidance group ( P<0.05). There was no significant difference in fracture healing time between the two groups ( P>0.05). VAS scores of the electromagnetic navigation group were (4.4±0.3)points and (1.1±0.1)points at 1 day and 6 months after surgery respectively, lower than those of the C-arm guidance group [(4.8±0.4)points and (1.2±0.3)points] ( P<0.05 or 0.01). Majeed function scores of the electromagnetic navigation group were (37.3±1.1)points and (88.5±1.4)points at 1 day and 6 months after surgery respectively, higher than those of the C-arm guidance group [(30.7±4.2)points and (82.6±1.8)points] (all P<0.01). There were no significant differences in VAS and Majeed scores at 12 months after surgery and at the last follow-up between the two groups (all P>0.05). There was no significant difference in the incidence of postoperative complications between the two groups ( P>0.05). Conclusion:Compared with C-arm guidance, electromagnetic navigation robot-assisted internal fixation with percutaneous minimally invasive hollow nail for Tile type C pelvic fracture can reduce operative time and intraoperative blood loss, shorten screw placement time and ambulation time, relieve pain and improve functional recovery at early stage.

Objective:To explore the clinical phenotype and genetic etiology of a child with Developmental epileptic encephalopathy type 104 (DEE 104).Methods:A child who had presented at the Children′s Medical Center of the Affiliated Hospital of Guangdong Medical University in February 2021 for recurrent seizures over 1 month was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.Results:The child, a five-month-old male, had presented with frequent focal seizures with severe developmental retardation from infancy. Physical examination showed emaciation, microcephaly, oblique palpebral fissures, Stahl′s ears, and hypotonia in the limbs. Electroencephalogram revealed multi-focal sharp waves, slow waves and slow spinal waves. Cranial magnetic resonance imaging revealed enlargement of bilateral lateral ventricles and the third ventricle, along with widening of brain sulci, fissure and cisterna. WES revealed that he had harbored a heterozygous c. 2401C>T (p.His801Tyr) missense variant of the ATP6V0A1 gene. Sanger sequencing showed that both of his parents were of the wild type. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be likely pathogenic (PS2+ PM2_Supporting+ PP3). The proband was diagnosed with DEE 104. Early treatment with sodium valproate has failed, but the child had become seizure free after the addition of levetiracetam and topiramate. He still had abnormal EEG discharges and severe psychomotor retardation. Combining our case and a review of literature, DEE104 is mainly caused by de novo heterozygous variants of the ATP6V0A1 gene with an autosomal dominant inheritance. The patients may show refractory epilepsy and severe global developmental delay from infancy. Conclusion:The c. 2401C>T (p.His801Tyr) variant probably underlay the DEE104 in this child.

Objective:To explore the clinical features and genetic basis for a child with Intellectual developmental disorder (IDD) and epilepsy.Methods:A child who was admitted to the Children′s Medical Center of the Affiliated Hospital of Guangdong Medical University in February 2021 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.Results:The patient, a 3-month-and-27-day female infant, had developed the symptoms in the neonatal period, which included severe developmental delay, respiratory difficulties and pauses, increased muscle tone of four limbs, feeding difficulty, and seizures. Cerebral MRI revealed bilateral cerebellar hypoplasia, and video EEG showed slightly increased sharp waves emanating predominantly from the right parietal, occipital, and posterior temporal regions. WES revealed that she has harbored a missense c. 3196G>A (p.Glu1066Lys) variant of the CLTC gene, which was confirmed to be de novo by Sanger sequencing. Based on the guideline from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PS2+ PM2_Supporting+ PP3). Conclusion:The c. 3196G>A (p.Glu1066Lys) missense variant of the CLTC gene probably underlay the pathogenesis in this child. Above finding has facilitated her diagnosis and treatment.