Objective: To evaluate the clinical feasibility and potential for malignant transformation prevention of hyperkeratotic oral leukoplakia (OLK) treatment using erbium, chromium:yttrium-scandium-gallium-garnet laser (Er,Cr:YSGG) ablation combined with 5-aminolevulinic acid (ALA)-mediated photodynamic therapy (PDT), providing a reference for clinical practice. Methods: Two cases of histopathologically confirmed gingival leukoplakia were treated. Following Er,Cr:YSGG (wavelength: 2,780 nm) ablation of the hyperkeratotic layer, 20% ALA solution was topically applied for 3 hours, followed by irradiation with a 635 nm diode laser (energy density: 100 J/cm²). Follow-up assessments included lesion regression and exfoliative cytology DNA ploidy stability, supplemented by a systematic literature review on OLK treatment advancements. Results: Case 1: at 1-year follow-up, > 90% lesion regression was observed (residual: 2 mm circular white patch) without recurrence, with stable diploid DNA ploidy. Case 2: complete lesion resolution and no recurrence at 1 year, with stable diploid DNA ploidy. Literature review showed that pharmacological therapies ameliorate OLK symptoms but fail to halt malignant progression, while surgical interventions carry recurrence risks. PDT demonstrates unique advantages by selectively targeting dysplastic cells. However, uneven ALA penetration due to the keratin barrier limits efficacy. Compared to needling, diode laser, or CO₂ laser pretreatment, Er,Cr:YSGG leverages water absorption for precise, low-thermal keratin ablation, substantially enhancing tissue permeability and optimizing ALA diffusion, thereby improving PDT outcomes. Conclusion Er,Cr:YSGG ablation combined with PDT serves as an optimized regimen for hyperkeratotic OLK, offering a novel approach to mitigate OLK carcinogenesis.

The clinical phenotype heterogeneity of epilepsy patients with ADGRV1 gene mutation is significant, ranging from self limiting febrile seizures to developmental epileptic encephalopathy, even causing sudden epileptic death. A case of infantile epileptic spasms syndrome with a novel heterozygous variant of the ADGRV1 gene c.4100C>A (p.Thr1367Lys) was reported in this article. The site of this variant had not been reported yet, and the clinical manifestations of the child mainly included epileptic spasms (first onset at 4 months old), mild growth and development delay, highly irregular video electroencephalogram, and effective treatment with adrenocorticotropic hormone.

Objective:To analyze the clinical phenotypes and genetic features of a child with developmental and epileptic encephalopathy due to compound heterozygous variants in the ALG14 gene, and to improve clinicians′ understanding of the ALG14 gene and its associated disorders. Methods:Clinical data of a child with developmental and epileptic encephalopathy caused by ALG14 gene variants, who visited Linyi People′s Hospital on September 9, 2019, were collected and followed up. Whole exome sequencing (WES) and Sanger sequencing were applied to genetically detect the child and her parents, SWISS-MODEL software was used to perform 3D modeling of proteins for the screened ALG14 gene variants, and the literature was reviewed to summarize the clinical phenotypes and genetic characteristics of patients associated with ALG14 gene. Results:The proband, a 17-year-old female, presented with focal seizures and generalized tonic-clonic seizures, generalized developmental delay, cranial magnetic resonance imaging showing no significant abnormalities, and video-electroencephalogram showing widespread low-amplitude fast rhythms. The WES results showed that the affected child carried compound heterozygous variants c.243A>G (p.Ile81Met) and c.103delG(p.Glu35SerfsTer7) (NM_144988) in the ALG14 gene, and Sanger sequencing validation showed that they were derived from her father and mother with normal clinical phenotype, respectively, and the above loci had not been reported domestically or internationally. 3D modeling revealed that the p.Ile81Met variant resulted in a change in the coding amino acid at position 81, and alteration of the stability and hydrophobicity of the protein, which may affect the protein function; the p.Glu35SerfsTer7 variant resulted in early truncation of the peptide chain, loss of a large number of amino acid fragments, and significant alteration of the protein structure. According to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, p.Ile81Met was a variant of undetermined clinical significance (PM2+PM3+PP3), and p.Glu35SerfsTer7 was a likely pathogenic variant (PVS1+PM2+PP3). A total of 5 papers were retrieved reporting 13 cases related to ALG14 gene variants (including the present case), 4 cases with pure heterozygous variants, 9 with compound heterozygous variants, involving 11 variant types, all inherited from the parents, of which 9 being missense variants, 1 being shifted code variant, and 1 being intronic deletion variant. The main clinical phenotypes included epileptic seizure (11/13), hypotonia (10/13), craniofacial malformations (8/13), growth disorders (3/13), and behavioral abnormalities (2/13). Conclusions:This article reports the first case of ALG14 gene related developmental and epileptic encephalopathy in a child at home and abroad, characterized by focal seizures, generalized tonic-clonic seizures, and global developmental delay. The compound heterozygous variants c.243A>G (p.Ile81Met) and c.103delG(p.Glu35SerfsTer7) may be the genetic cause of this child, enriching the clinical phenotype and variation spectrum related to this gene.

Objective To evaluate the therapeutic efficacy for surgical treatments among patients with hepatic cystic echinococcosis in Gansu Province from 2006 to 2023, so as to provide insights into optimization of the diagnosis and treatment strategies against hepatic cystic echinococcosis. Methods The demographic and clinical data of all echinococcosis cases included in central government fiscal transfer payment program for echinococcosis control and undergoing surgical treatments in Gansu Province from 2006 to 2023 were captured. Hepatic cystic echinococcosis patients with complete medical records and follow-up data were included in the study, and patients’ characteristics, including hospital where patients received diagnosis and treatment, methods of case identification, year of surgery, classification of lesions, number of lesions, size of lesions, course of disease, surgical methods, and post-surgical follow-up data. The cure and recurrence of hepatic cystic echinococcosis were evaluated according to the Guidelines for Management of Echinococcosis Patients in the Central Government Fiscal Transfer Payment Program, and the cure and recurrent rates were calculated. Results Data were collected from 1 686 surgical patients with hepatic cystic echinococcosis. According to the inclusion and exclusion criteria, 1 222 hepatic cystic echinococcosis patients undergoing surgical treatments were included during the period from 2006 to 2022, including 1 166 cured patients (95.42%) and 88 patients with postsurgical recurrence (7.20%), and the cure rate of surgical treatments appeared a tendency towards a rise among patients with hepatic cystic echinococcosis from 2008 to 2022 (χ²_trend = 19.39, P < 0.05). The cure rates of hepatic cystic echinococcosis were 100% (177/177), 94.81% (128/135) and 94.62% (861/910) among patients detected through regular physical examinations, screened by the central government fiscal transfer payment program for echinococcosis control, and those who passively sought healthcare services, respectively (χ² = 9.95, P < 0.05). The cure rates of hepatic cystic echinococcosis were 95.96% (1 046/1 090) among patients with a disease course of 2 years and less and 90.90% (120/132) among patients with a disease course of over 2 years (χ² = 6.87, P < 0.05), and there were significant differences in the cure rates among patients with hepatic cystic echinococcosis in terms of number of lesions (χ² = 24.44, P < 0.05) and surgical methods (P < 0.05). The cure rate of hepatic cystic echinococcosis patients was significantly higher following initiation of the central government fiscal transfer payment program for echinococcosis control (96.06%, 1 096/1 141) than before the program (86.42%, 70/81) (χ² = 16.06, P < 0.05), and the cure rate of hepatic cystic echinococcosis patients was significantly higher in designated hospitals (96.48%, 741/768) than in non-designated hospitals (93.37%, 366/392) (χ² = 5.78, P < 0.05). The median follow-up period was 4 (interquartile range, 7) years among 1 222 hepatic cystic echinococcosis patients undergoing surgical treatments. The recurrent rate of hepatic cystic echinococcosis appeared a tendency towards a decline from 2008 to 2022 (χ²_trend = 36.86, P < 0.05), with a reduction from 23.08% (9/39) in 2008 to 1.85% (1/54) in 2021, and the post-surgical recurrence rate of hepatic cystic echinococcosis was lower following initiation of the central government fiscal transfer payment program for echinococcosis control (5.87%, 67 / 1 141) than before the program (25.93%, 21/81) (χ² = 45.51, P < 0.05). In addition, the post-surgical recurrence rate of hepatic cystic echinococcosis was higher in non-designated hospitals (10.46%, 41/392) than in designated hospitals (5.60%, 43/768) (χ² = 9.12, P < 0.05), and there was a significant difference in the post-surgical recurrence rate among patients with hepatic cystic echinococcosis in terms of surgical methods (P < 0.05), with the highest recurrence rate (11.54%) seen among patients undergoing percutaneous fine-needle aspiration of cyst fluids-based surgical procedures (P < 0.05). Conclusion Since the initiation of the central government fiscal transfer payment program for echinococcosis control in Gansu Province in 2006, an increase in the surgical cure rate and a reduction in the recurrence of hepatic cystic echinococcosis had been found among patients with hepatic cystic echinococcosis, indicating a high overall therapeutic efficacy.

Objective:This study aims to investigate the differences in emotional status and cognitive function among patients with vestibular migraine (VM), Meniere′s disease (MD), and their comorbidity (VMMD), and to analyze key factors influencing cognitive function.Methods:This cross-sectional study included 96 outpatients (32 males, 64 females, aged 21-73 years) from the Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, between December 2022 and December 2023. The study population consisted of 31 VM patients (VM group), 36 MD patients (MD group), and 29 VMMD patients (VMMD group), along with 32 healthy controls (16 males, 16 females, aged 19-74 years). Cognitive function was assessed using the Montreal Cognitive Assessment (MoCA), while emotional status and somatization symptoms were evaluated through the Generalized Anxiety Disorder scale, Patient Health Questionnaire Depression scale, Symptom Checklist-90, and the Self-rating Somatization Symptom scale. Multiple linear regression analysis was conducted to explore the influence of different variables on cognitive function.Results:The total MoCA score in the VMMD group (26.0 [24.5, 28.0]) was significantly lower than that in the control group (28.0 [27.0, 29.0]) and the MD group (28.0 [26.0, 30.0]) ( P=0.006). VMMD patients exhibited significant impairments in specific cognitive domains, including visuospatial/executive function, delayed recall, and orientation ( P<0.05). Patients with VM, MD, and VMMD showed higher rates of anxiety, depression, and somatization symptoms compared to the control group ( P<0.05), with the VMMD group experiencing the most severe emotional distress. Multiple linear regression analysis identified education level and vestibular disease type as key factors affecting cognitive function, with a university-level education predicting higher MoCA scores ( P<0.001), while VMMD was associated with cognitive decline ( P<0.01). Conclusions:Patients with VM and MD, particularly those with comorbid VMMD, exhibit significant emotional distress. Cognitive impairments are present in VM and VMMD patients, affecting different cognitive domains. These factors should be comprehensively considered in clinical assessments to develop more effective treatment strategies.

Objective:This study aims to investigate the differences in emotional status and cognitive function among patients with vestibular migraine (VM), Meniere′s disease (MD), and their comorbidity (VMMD), and to analyze key factors influencing cognitive function.Methods:This cross-sectional study included 96 outpatients (32 males, 64 females, aged 21-73 years) from the Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, between December 2022 and December 2023. The study population consisted of 31 VM patients (VM group), 36 MD patients (MD group), and 29 VMMD patients (VMMD group), along with 32 healthy controls (16 males, 16 females, aged 19-74 years). Cognitive function was assessed using the Montreal Cognitive Assessment (MoCA), while emotional status and somatization symptoms were evaluated through the Generalized Anxiety Disorder scale, Patient Health Questionnaire Depression scale, Symptom Checklist-90, and the Self-rating Somatization Symptom scale. Multiple linear regression analysis was conducted to explore the influence of different variables on cognitive function.Results:The total MoCA score in the VMMD group (26.0 [24.5, 28.0]) was significantly lower than that in the control group (28.0 [27.0, 29.0]) and the MD group (28.0 [26.0, 30.0]) ( P=0.006). VMMD patients exhibited significant impairments in specific cognitive domains, including visuospatial/executive function, delayed recall, and orientation ( P<0.05). Patients with VM, MD, and VMMD showed higher rates of anxiety, depression, and somatization symptoms compared to the control group ( P<0.05), with the VMMD group experiencing the most severe emotional distress. Multiple linear regression analysis identified education level and vestibular disease type as key factors affecting cognitive function, with a university-level education predicting higher MoCA scores ( P<0.001), while VMMD was associated with cognitive decline ( P<0.01). Conclusions:Patients with VM and MD, particularly those with comorbid VMMD, exhibit significant emotional distress. Cognitive impairments are present in VM and VMMD patients, affecting different cognitive domains. These factors should be comprehensively considered in clinical assessments to develop more effective treatment strategies.

The clinical phenotype heterogeneity of epilepsy patients with ADGRV1 gene mutation is significant, ranging from self limiting febrile seizures to developmental epileptic encephalopathy, even causing sudden epileptic death. A case of infantile epileptic spasms syndrome with a novel heterozygous variant of the ADGRV1 gene c.4100C>A (p.Thr1367Lys) was reported in this article. The site of this variant had not been reported yet, and the clinical manifestations of the child mainly included epileptic spasms (first onset at 4 months old), mild growth and development delay, highly irregular video electroencephalogram, and effective treatment with adrenocorticotropic hormone.

Objective:To analyze the clinical phenotypes and genetic features of a child with developmental and epileptic encephalopathy due to compound heterozygous variants in the ALG14 gene, and to improve clinicians′ understanding of the ALG14 gene and its associated disorders. Methods:Clinical data of a child with developmental and epileptic encephalopathy caused by ALG14 gene variants, who visited Linyi People′s Hospital on September 9, 2019, were collected and followed up. Whole exome sequencing (WES) and Sanger sequencing were applied to genetically detect the child and her parents, SWISS-MODEL software was used to perform 3D modeling of proteins for the screened ALG14 gene variants, and the literature was reviewed to summarize the clinical phenotypes and genetic characteristics of patients associated with ALG14 gene. Results:The proband, a 17-year-old female, presented with focal seizures and generalized tonic-clonic seizures, generalized developmental delay, cranial magnetic resonance imaging showing no significant abnormalities, and video-electroencephalogram showing widespread low-amplitude fast rhythms. The WES results showed that the affected child carried compound heterozygous variants c.243A>G (p.Ile81Met) and c.103delG(p.Glu35SerfsTer7) (NM_144988) in the ALG14 gene, and Sanger sequencing validation showed that they were derived from her father and mother with normal clinical phenotype, respectively, and the above loci had not been reported domestically or internationally. 3D modeling revealed that the p.Ile81Met variant resulted in a change in the coding amino acid at position 81, and alteration of the stability and hydrophobicity of the protein, which may affect the protein function; the p.Glu35SerfsTer7 variant resulted in early truncation of the peptide chain, loss of a large number of amino acid fragments, and significant alteration of the protein structure. According to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, p.Ile81Met was a variant of undetermined clinical significance (PM2+PM3+PP3), and p.Glu35SerfsTer7 was a likely pathogenic variant (PVS1+PM2+PP3). A total of 5 papers were retrieved reporting 13 cases related to ALG14 gene variants (including the present case), 4 cases with pure heterozygous variants, 9 with compound heterozygous variants, involving 11 variant types, all inherited from the parents, of which 9 being missense variants, 1 being shifted code variant, and 1 being intronic deletion variant. The main clinical phenotypes included epileptic seizure (11/13), hypotonia (10/13), craniofacial malformations (8/13), growth disorders (3/13), and behavioral abnormalities (2/13). Conclusions:This article reports the first case of ALG14 gene related developmental and epileptic encephalopathy in a child at home and abroad, characterized by focal seizures, generalized tonic-clonic seizures, and global developmental delay. The compound heterozygous variants c.243A>G (p.Ile81Met) and c.103delG(p.Glu35SerfsTer7) may be the genetic cause of this child, enriching the clinical phenotype and variation spectrum related to this gene.

Objective:To evaluate the short-term rehabilitation effect of wearable visual training devices based on extended reality (XR) glasses in patients after macular hole surgery.Methods:A self-controlled study was conducted.Eleven patients with monocular low vision after macular hole surgery were recruited at Renmin Hospital of Wuhan University from October 2022 to March 2024.All patients underwent biofeedback training for 3 months using the independently developed visual rehabilitation training glasses LOOKBON T10.The LogMAR best corrected visual acuity (BCVA), retinal sensitivity, effective fixation rate, fixation stability, reading speed, vertical metamorphopsia (MV), horizontal metamorphopsia (MH), and Chinese version of the visual-related quality of life assessment form (CVRQoL-25) were compared before and after training.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Renmin Hospital of Wuhan University (No.WDRY2024-K263).Written informed consent was obtained from each subject.Results:After training, the patients' BCVA, retinal sensitivity, effective fixation rate, fixation stability, and reading speed were 0.69±0.19, (21.61±2.75)db, (92.43±4.06)%, (93.09±4.31)%, and (104.82±21.85) characters/minute, respectively, which were significantly improved compared to 0.85±0.28, (17.71±3.17)db, (31.83±19.05)%, (32.35±19.12)%, and (69.64±20.17) characters/minute before training ( t=5.253, -5.987, -11.561, -12.003, -11.682; all at P<0.001).After training, MV and MH were (0.29±0.20)° and (0.21±0.24)°, respectively, which were significantly reduced compared to pre-training (0.44±0.24)° and (0.43±0.41)° ( t=9.238, 4.068; both at P<0.01).After training, the CVRQoL-25 score was 1 193.18±229.43, which was significantly higher than pre-training 947.73±203.86 ( t=-11.687, P<0.001). Conclusions:The application of wearable visual training equipment based on XR glasses can effectively improve the visual function of patients with poor visual function recovery after macular hole surgery, and enhance their quality of life.

Objective:To explore the clinical and genetic characteristics of five children with epilepsies due to variants of SCN8A gene. Methods:Clinical data of five children (four males and one female) admitted to Linyi People′s Hospital due to hereditary epilepsies between August 2015 and August 2022 were collected. Whole exome sequencing was carried out for these children, and candidate variants were verified by Sanger sequencing.Results:All of the five children were found to harbor variants of the SCN8A gene. Case 1, who had benign familial infantile epilepsy, inherited a known pathogenic c. 4840A>G variant from his father with similar symptoms. Cases 2 to 4 had presented with intermediate epilepsy. Among these, case 2 has harbored a de novo c. 3967G>A variant which was rated as pathogenic (PS1+ PS2+ PM1+ PM2_Supporting+ PP3) based on the guidelines from the American College of Medical Genetics and Genomics. Cases 3 and 4 were found to respectively harbor a de novo c. 415A>T and a c. 4697C>T variant, which were both rated as likely pathogenic (PS2+ PM1+ PM2_Supporting+ PP3). Case 5, who had early-onset infantile epileptic encephalopathy transformed into Lennox Gastaut-like syndrome, has harbored a de novo c. 5615G>A variant, which was known to be pathogenic. The children had their age of onset ranging from 2 to 14 months, and all had focal seizures and generalized tonic clonic seizures. Four children (cases 1, 2, 3 and 5) had cluster seizures, four (cases 1 to 4) had become seizure-free after single or dual treatment and showed normal growth and development, whilst case 5 was drug-resistant and showed severe developmental retardation. Conclusion:The five children had new features such as cluster seizures, occasional benign seizures in adulthood, and intermediate epilepsy which are prone to relapse after discontinuation of medication, which may be attributed to the pathogenic variants of the SCN8A gene.